Gen Derm Flashcards
Heerfordt’s syndrome
Variant of sarcoid: Uveoparotid syndrome
- *facial nerve palsy
- BIL anterior uveitis
- Parotid gland enlargement
Lofgren’s syndrome
Acute sarcoid
- fever
- migratory polyarthritis
- E nodosum
- BIL hilar adenopathy
Mikulicz syndrome
Sicca symptoms in sarcoid!
complex constellation of symptoms seen in sarcoid and other:
-lacrimal and parotid enlargement=sicca symptomes
Parinaud oculoglandular syndrome
Variant of sarcoid: ipsilateral conjunctivitis and parotid gland enlargement
Darier-Roussy disease
Sarcoid panniculitis
Lupus pernio
Variant of sarcoid as papulonodules on the face
-associated with chronic lung disease and bone cysts
sarcoid panniculitis
Darier-Roussy disease
The Laminin formerly known as Laminin-332
Laminin 5 (Intermediate filaments)
What is MADDPORES?
The pneumonic for EPS! (Elastosis Perforans Serpiginosa)
Name all of the diseases that EPS is found in?
MADDPORES! Marfans Acrogeria Downs D-penacillamine Psuedoxanthoma elasticum Osteogenesis Imperfecta Rothmund Thompson Ehlers Danlos Scleroderma
What medicine causes EPS?
D-penacillamine
A person with Wilson disease got a weird serpiginous thing on their neck, what is this?
EPS - this is because D-penacillamine is an increased risk factor for developing EPS
Which genoderm carries an increased risk of developing osteosarcoma?
Rothmund Thompson (1/3 of patients get it!) and nothing else does this
p53 is located on which chromasome?
the long arm of chromasome 17
the majority of p53 mutations involve which part of the gene?
the sequence specific DNA binding domain
Underphosphorylated Rb binds to which transcription factor to prevent the cell from entering S phase?
E2F
a connective tissue nevus in Tuberous Sclerosis
a connective tissue nevus is Buschke-Ollendorff syndrome
Shagreen Patch
dermatofibrosis leticularis disseminata
Name two common allergans in topical steroid vehicles?
- propolyne glycol
2. sorbitan sesquidate
Name two common allergans in topical steroid vehicles?
- propolyne glycol
2. sorbitan sesquidate
How many CMEs do you need a year?
50
What lung finding in Birt Hogg Dube
spontaneous pneumothorax
carpal ankylosis is pathoneumonic for which syndrome?
Adult onset Stills disease (carpal ankylosis is the fusing of the two bones)
generalized pustular psoriasis in pregnancy is also referred to as:
Impetigo herpetiformis
Acrokeratosis Verruciformis
Darier’s Disease (ATP2A)
B1
Thiamine
B2
Riboflavin
B3
Niacin
B5
patothenic acid
B6
Pyridoxine
B7
Biotin
B9
Folic Acid
B12
Cobalamin
Thiamine
B1
Riboflavin
B2
Niacin
B3
Pantothenic Acid
B5
Pyridoxine
B6
Folic Acid
B9
Cobalamin
B12
Oro-ocular genital syndrome
deficiencies in B2 (riboflavin) and B6 (pyridoxine)
Pellagra
Vitamin B3 deficiency (Niacin)
Diarrhea Dermatitis Dementia "casal's" necklace pigmentation of the dorsal hands and feet
Beri Beri
Thiamine (B1) deficiency
Sideroblastic anemia
Vitamin B6 (Pyridoxine)Deficiency
The genetic form of zinc deficiency
Acrodermatitis Enteropathica
The genetic form of biotin deficiency
Holocarboxylase Deficiency
Megaloblastic anemia
Folic acid (Vitamin B9) deficiency
OR
Cobalamin (Vitamin B12) deficiency
“macrocytosis with hypersegmented neutrophils”
pathomnemonic for Folic acid (vitamin b9) deficiency
Which drugs cause PML?
Cyclosporine
Mycophenolate mofetil
natalizumab
rituximab
why should people with first degree relatives who have MS not take TNF-alpha inhibitors?
TNF inhibitors have increased risk for demyelinating neuropathies
dapsone and thalidomide - which type of neuropathies are associated
dapsone - motor neuropathies (reversible)
thalidomide - sensory neuropathies (irreversible)
Dry Beri Beri
peripheral neuropathy
found in thiamin deficiency
Wet beri beri
congestive heart failure
found in thiamine deficiency
what vitamin deficiency can cause a peripheral neuropathy?
thiamine
B1
*dry beri beri
Glossitis
peripheral neuropathy
Dry beri beri - thiamine deficiency
polish rice diet
thiamine deficiency
coenzyme in carbohydrate metabolism
thiamine (b1)
vitamin in collagen formation
vitamin c
vitamin that plays a role in the formation of glucose
thiamine
oral ocular genital syndrome
Vitamin B2 Riboflavin
magenta-colored tongue angular chelitis seb derm genital dermatitis photophobia
Oral ocular genital syndrome (Vitamin B2 riboflavin deficiency)
deficiency found in celiac sprue
vitamin B2 riboflavin
vitamin responsible for production of gluathione
Vitamin B2 riboflavin
Vitamin responsible for pellagra
Vitamin B3 Niacin
photosensitive eruption on the face neck and upper chest diarrhea angular chelitis perianal dermatitis disorientation
Vitamin B3 Niacin
This is Pellagra!
Casals necklace
pellagra - vitamin B3 Niacin
vitamin causing a peripheral neuropathy
thiamine *vit B1
pyridoxine *vit B6
Vitamin that is a tryptophan precursor amino acid
Niacin *vit b3
deficiency associated with a diet composed of entirely corn
Niacin *vit B3
deficiency caused by a use of isoniazid (INH)
Niacin *vit B3
AND
Pyridoxine *vit B6
vitamin deficiency caused by carcinoid syndrome
niacin *vitamin b3
Vitamin def associated with cirrosis and uremia
Vitamin B6 Pyridoxine
UVB + what = Vitamin D?
7-dehydrocholesterol
foamy white spots on the conjunctiva
Bitots spots (vitamin A excess)
What skin findings to pts with Vitamin D deficiency have?
alopecia (NO skin rashes!)
lab abnormality in decreased Vitamin K
prolonged PT
active form of vitamin D
calcitriol
what kind of fatty acids can the body not synthesize?
unsaturated FA
spoon shaped nails due to iron deficiency
koilonychia
Patients on Targretin should not use which common household product?
DEET! For some reason Bexarotine (targretin) combines with DEET to increase DEET toxicity
*Alitretinoin also causes this side effect
A patient treated got a topical “beauty cream” from a doctor to treat his psoriasis, and after working in the yard in the summer he gets sweaty diaphoretic, ect. What happened?
DEET toxicity. The psoriasis med was likely targretin (bexarotine, binds RXR receptors), and it interacts with DEET to cause DEET toxicity
Which topical retinoid is applied 3-4 times per day to treat CTCL?
Targretin (bexarotene)
Which topical retinoid is used to treat Kaposi’s sarcoma?
Ali-tretinoin (9-cis trans retinoic acid) it is one of the naturally derived
another name for alitretinoin
9-cis-retinoic acid
Which two topical retinoids are the only ones which bind to the RXR receptor?
Bexarotene (Targretin) -RXR exclusively
Alitretinoing (9-cis-retinoic acid) RXR and RAR
Which two topical retinoids are category X?
targretin (bexarotene) and tazorac (tazarotene)
Which key cellular component of the development of acne is blocked by topical retinoids?
TLR-2 (which interacts with p acnes to form the microcomedome, the precursor lesion to inflammatory papules and comedomes)
Granular cell tumor is derived from what tissue?
Neural tissue
Melanocytes appear in which week of gestation?
10 weeks
Which two cutaneous B cell lymphomas have a good prognosis?
Follicle center, and marginal zone
Which B cell lymphoma is most closely related to Borriela infection?
Marginal zone lymphoma
BCL-2
FOX-1
MUM
are all markers for which skin disease?
Primary cutaneous diffuse large B cell lymphoma, leg type
Marker that is positive in almost all of the Follicle center B cell lymphomas
BCL-6
also CD10
what is the wavelength used in NB-UVB therapy?
311nm
which cutaneous B cell lymphoma is associated with Borriella?
Marginal
Most common cosmetic preservative to cause ACD?
Quaternium-15
contact allergen found in vaccines
thimerosal
What do you patch test for if trying to find an allergy to hydrocortisone?
Tixocortol-21-pivalate
What do you patch test for if you want to find an allergy to triamcinolone?
Budesonide
What do you patch test for if you want to find an allergy to fluocinonide?
Budesonide
What do you patch test for if you want to find an allergy to clobetasol or betamethasone?
Hydrocortisone-17-butyrate
Dont eat which two foods if you have a bad allergy to poison ivy?
Cashews or mangos
What is Baboon syndrome?
An ACD on the buttocks caused by ingestion of some sort of pesto pasta containing cashews in a person who is allergic to poison ivy
What family is poison ivy a part of?
Anacardiacea
Wavelenth of narrowband UVB
311-313
PUVA therapy peaks at what wavelength:
352
wavelength 290-320 is what?
UVB spectrum
Excimer laser is what wavelength?
308
UVA2 spectrum is what wavelengths?
320-340
UVA1 wavelengths
340-400
what wavelengths do you do PDT at?
400-700 (blue and red light)
contraindication for phototherapy
thiazides, doxycycline, and lupus
most common DNA photoproduct:
cyclobutane-pyrimide dimers (CPD)
most frequent cyclobutane-pyrimide dimer:
T-T
signature DNA mutation related to UVB
C–>T (cyctoside changed to thymine)
what is the mechanism of action of mutations from:
UVA
UVB
UVA- from ROS
UVB -from formation of dimers
pts with pemphigoid gestationis have an increased risk of what post partum?
graves disease
why do first generation antihistimines make you drowsy?
because they are LIPOPHILIC - and thus can cross the blood brain barrier
How can first gen antihistamines cross the blood brain barrier?
they are LIPOPHILIC
Fexofinadine trade name, and prodrug name
Allegra, its prodrug is 1st gen terfinadine
which second gen antihistamine is not proven safe to use in pregnancy?
fexofenadine (Allegra)
which second gen H1 blocker is metabolized by CYP3A4 inhibitor and why does that matter?
Loratidine (Claritin) - because this is one of the major inhibitors in the liver where it is metabolized and theoretically could interact with another drug like a macrolide or grapefruit juice to increase blood levels of loratidine = cardiac arythmias
which second gen H1 blocker is the metabolite of a first gen H1 blocker (and which one is it?)
zyrtec (certirizine) is the metabolite of hydroxizine (Atarax)
which antihistamine do you take in pregnancy?
chlorpheniramine!
Gene mutated in both atopic derm and ichtyosis vulgaris
Fillagrin
what are dennie morgan lines?
the two lines below the canthus in atopic derm patients
Contact urticaria is what kind of hypersensitivity?
Type I
what is the most common underlying malignancy seen in someone with erythema gyratum repens?
lung cancer
Bacterial phage that causes bullous impetigo
Phage II, type 71
bacteria causing impetigo
causing bullous impetigo
impetigo = staph >strep
bullous impetigo= ONLY staph
what are pastias lines?
seen in scarlett fever: they are dark lines of confluent purpura found in the axillary and antecubial folds
sharply bordered, punched out ulcer with yellow leathery psudomembrane
cutaneous diptheria
difference between erysipelas and erysipeloid
erysipelas = strep infection
erysipeloid= erysipelothrix, fish handlers disease (also a gram positive bacteria tho)
Madura foot with red grains is caused by what bacteria?
Actinomadura
Actinomycetoma (Madura foot) with white grains caused by what bacteria?
Nocardia
Madura foot caused by yellow grains
Streptomyces
PAPA syndrome
pyogenic arthritis
PG
acne
SAPHO syndrome
Sweet's with: synovitis acne pustules hyperostosis osteitis
synonym for Intravascular Papillary Endothelial Hyperplasia
Massons tumor
Prodrome of fever and backache
- macules/papules initially on face, spreads to trunk and extremities
- papules then turn to vessicles with central umbilication
- *lesions are all the same age
-Variola (smallpox)
Variola virus causes:
Smallpox
Name the findings in POEMS syndrome
Polyneuropathy Organomegaly Endocrine abnormalities Monoclonal gammopathy Skin findings (glomeroloid hemangioma)
What vascular neoplasm do you see in POEMS syndrome?
Glomeruloid Hemangioma
In what two syndromes do you find a Glomeruloid Hemangioma?
POEMS and Castlemans syndrome
Angiokeratoma corporis diffusum is found most famously in what disease?
XLR Fabry disease
Multiple clustered angiokeratomas in a bathing suit distribution
Angiokeratomas Corporis Diffusum
Multiple angiokeratomas on the fingers and toes, associated with chillblains and acrocyanosis
Angiokeratosis of Mibelli
A group of little papules that look like cherry angiomas, usually present from birth, on the arms and legs
Angioma circumsciptum
Is TH1 or TH2 seen in chronic atopic derm?
TH1 for chronic atopic derm
TH2 for acute atopic derm
Is TH1 or TH2 seen in chronic atopic derm?
TH1 for chronic atopic derm
TH2 for acute atopic derm
Mutations in FILLAGRIN (epidermal cornification protein) are seen in what two disorders?
Atopic Dermatitis
&
Icthiosis Vulgaris
Hertoge sign
Absense or thinning of the lateral eyebrows in atopic derm
Which antihistimine has T cell suppressor therapy?
Cimetidine
keratins found in suprabasal layer
K1/K10
AND
highly expressed K9 in suprabasal layer of palmoplantar epidermis
what site is K9 highly expressed in?
Suprabasal layer of palmoplantar epidermis
BASAL layer keratins
K5/14
palms and soles keratinocytes
K6/17
Name two molecules in the cadherin family
Desmoglein
Desmocollin
Mutation in steatocystoma multiplex
Keratin 17
Steatocystoma multiplex can be seen in what genoderm?
Pachonychia congenita Type II
mutation in Keratin 6a, 17
What is the mutation in Pachonychia congenita Type II?
Keratin 6a, 17
What skin finding is associated with Pachyonychia Congenita due to mutation in Keratin 17?
Steatocystoma multiplex
What embryonic layer is hair derived from?
Ectoderm
With the exception of the dermal papilla which is derived from mesoderm!!!
What layer is the dermal papilla derived from?
Mesoderm
What is the widest diameter of the hair follicle called?
Critical line of auber
Which part of the hair segment does the bulk of mitotic activity occur?
The inferior segment right below the critical line of auber
Which part of the hair do the melanocytes that determine hair color live?
The inferior segment (in the bulb)
Name the layers of the hair from the outer-most to the inner most
Glassy membrane Outer root sheath Henle (IRS) Huxley (IRS) Cuticle (IRS) Hair shaft cuticle Cortex Medulla
Where in the hair do you find the outer root sheath?
The entire hair follicle!
It kertatinizes in the infundibular portion and has tricholemmal characterization in the isthmus and the inferior segment
Where is the inner root sheath found in the hair follicle?
Found ONLY in the lower segment (not found in the isthmus or the infundibulum)
Which layer of the hair follicle contains the majority of the hair KERATINS
The corseted
Which layer of the hair follicle maintains the integrity of the hair fibers?
The cuticle layer
What is the lower portion of the hair follicle?
Extends from the bulge of the isthmus (insertion point of arrest or pili) down to the bulb of the follicle
What portion of the hair follicle contains stem cells?
The bulge
Where is the insertion point for the arrector pili muscle?
THE BULGE
What term in the hair follicle is used to describe a collection of mesenchymal cells which protrudes into the hair bulb?
The dermal papilla
Which hair cycle is the growth phase?
Anagen
How many hairs are in anagen at one time?
85%
Which hair loss syndrome has miniaturization of telogen and catagen follicles?
Alopecia areata
On dermascopy, what would you see in AA?
“Exclamation point hairs”
Alopecia with varying lengths of broken hair
Trichotillomania
Deformed hair shafts
Trichomalacia
Which hair disorder do you find trichomalacia?
Trichotillomania
In which type of alopecia would you find an increased number of telogen hairs, normal number of follicles, increased vellous hairs
Androgenetic alopecia
Comma hairs, or corkscrew hairs
Tinea capitis
Bamboo hair
Trichorrhexis invaginata - Netherton syndrome
Tufted hair
Multiple hair shafts emergin from 1 follicle - see in scarring alopecia like folliculitis decalvans and dissecting cellulitis
Name all of the herpes viruses
HHV1- oral herpes HHV2-genital herpes HHV3-VZV(chicken pox, shingles) HHV4-EBV, mono, Gianotti Crostii, Burkitts, Hodgkins HHV5- CMV HHV6-Roseola HHV7-Pityriasis Roseola HHV8- Kaposi's, Castlemans
Which HHV causes PR?
HHV7
Which HHV causes Kaposi
HHV8
Which HHV causes Burkitts
HHV4
Which HHV causes roseola?
HHV6
Which HHV causes VZV
HHV3
Which HHV causes Gionotti Crosti?
HHV4
Which HHV causes CMV?
HHV 5
Causes of EM
HSV
Medication induced: NSAIDS, anticonvulsants
MYCOPLASMA
Difference between EM major and minor
No oral lesions in EM minor
Which HLA class is most strongly associated with SCLE?
HLA-B8
Botulinum toxin binds to heavy chain or light chain?
Heavy chain
The antigen in DH
Transglutaminase
What thing do you want to check in a baby with neonatal lupus?
ECG - 50% of these babies will have permanent 3rd degree heart block!
What are the chances the next baby of a sibling with neonatal lupus will also get neonatal lupus?
25%
Which type of porokeratosis has the highest risk of turning into a squam?
Linear porokeratosis
Trichoeps
Cylindromas
Spiradenomas
BCCs
Brooke Speigler
Brooke Speigler
Trichoeps
Cylindromas
Spiradenomas
BCCs
Brooke-Speigler gene defect
CLYD (cylindromatosis)
Classic triad: alopecia, diaper dermatitis, diarrhea
Acrodermatitis enteropathica (zinc deficiency)
Gene for acral melanoma
C-KIT
Mucosal melanoma
C-kit
Uveal/Ocular melanoma
GNAQ
Highly aggressive metastatic ocular is BAP1
Non sun damaged skin/intermittent high intensity sun exposed melanoma
BRAF
Lentigo maligna gene
C-KIT
Gene defect in chronic sun exposed skin melanoma
C-KIT
Metastatic ocular melanoma gene
BAP-1
Familial melanoma gene
CDKN2A, BAP
Gene mutation in XP melanoma
PTEN
Gene mutation in congenital nevi
NRAS
Spitz nevi/spitzoid melanoma gene mutation
HRAS
Melanin needs what element to make pigment
Copper
What specialty should you refer someone to if they begin making multiple halo nevi after age 40 suddenly?
Optho! May indicate ocular melanoma (GNAQ)
What HLA type has the highest risk of developing psoriasis?
Cw6
How much of your hair is in anagen phase at once?
95%
How much of your hair is in telogen phase at once?
5%
Name three drugs associated with gingival hyperplasia
Phenytoin
Nifedipine
Cyclosporine
What type of monoclonal gammopathy is associated with scleromyxedema
Lambda light chain
An accessory tragus represents an anomaly of what anatomic structure?
First brachial arch
Butchers warts are caused by which HPV type?
HPV 2 and HPV 7
How many Diabetes patients have NLD?
3%
How many NLD patients have diabetes?
30%
HPV type Butcher’s warts
2, 7
HPV flat warts
3, 10
HPV type plain warts
3,10
HPV type Hecks disease
13, 32
HPV type condyloma acuminata
6, 11
HPV type verrucous carcinoma
6,11
HPV type EDV
Too many to count! 2,3,5,-8-10, 12, 14
HPV type common wart
1,2,4
HPV type plantar wart
1
HPV type Bowenoid papulosis
16,18
What two kinds of proteins does the HPV virus encode?
E (early) and L (later)
E6 and E7
L1 and L2
What does the HPV E6 and E7 protein encode?
Viral DNA replication, which decreases p53 function (E6) and bind Rb (E7)
Vs L (late proteins), which encode viral STRUCTURAL PROTEINS
Which HPV proteins does the Gardisil vaccine encode?
L (late proteins) 6, 8, 11, 18
PCT has what finding in the urine?
How about stool?
RBCs?
UD (uroporphyrinogen) - urine
Isocopro - stool
RBC - normal
PCT enzyme defect
Uroporphyrinogen Decarboxylase
Urine dazzles pink
Triggers for aquired PCT
Hemochromatosis Estrogen HIV HCV Alcohol Polychlorinated hydrocarcbons Iron overload C282Y gene
What gene mutation is associated with aquired PCT?
C282Y
What type of monoclonal gammopathy do you see in scleromyxedema?
IgG - lambda light chain
What is the enzyme defect in EPP? (Erythropoietin Protoporphyria)?
Ferrochelatase
E(PP) –>F (errochelatase)
In EPP, what enzymes are found in the: Urine Stool RBC: Plasma
Urine: normal
Stool: proto
RBC: proto
Plasma: flouresces
Which is the only porphyria to have normal urine findings?
EPP (Ferrochelastase). *Ferra Faucet is a Pro
Urine: normal
Stool: proto
RBC: proto
Which porphyria presents with photosensitivity with burning
Healing with waxy scars
Porphyrin gallstones
Hepatic damage
EPP
Inheritance pattern of PCT
AD
Inheritance pattern of EPP
AD
What is another name for Gunthers disease?
CEP (Congenital Erythropoetic Porphyria)
Congenital Erythropoetic Porphyria is also called:
Gunthers disease
Inheritance pattern for Gunthers disease
AR (Congenital Erythropoetic Porphyria) CEP
Enzyme defect in Gunthers disease?
Uroporphyrinogen III cosynthase
This is CEP, Congenital Erythropoetic Porphyria
Which porphyria presents with erythrodontia
CEP (congenital erythropoetic porphyria), defect in Uroporphyrinogen III cosynthase (Ur Teeth r Colored*)
In CEP, name the enzymes found in the: Urine Stool RBCs Plasma
(CEP enzyme defect is Uro III Cosynthase) Urine: uro Stool:copro RBC: uro Plasma: flouresce
Which porphyria presents with: Extreme photosensitivity Bulla heals with intense mutilated scarring Hypertrichosis Erythrodontia Hemolysis (anemia) Red urine, stains diapers Increased risk of skin CA
CEP (Congenital erythropoetic porphyria)
Porphyria associated with erythrodontia
CEP
Baby has red stains in their diapers
CEP (Congenital Erythropoetic Porphyria)
Baby has red teeth and red diapers
CEP
Baby has red teeth and red stains in diapers, what enzyme must be deficient?
This must CEP (congenital erythropoetic porphyria), defect in the enzyme Uroporphyrinogen III Cosynthase
+++uro found in the urine and blood
What type of cancers are kids with CEP at risk for?
Skin cancers
Which porphyria carries the most dramatic increased risk of skin cancers?
CEP
Which porphyria usually requires a bone marrow transplant?
CEP
What wavelengths are absorbed intensely by porphyrins?
400-410 (the Soret band)
A child with bulla, sunburns, bad mutilated scars has a splenectomy, which porphyria does this sound like?
CEP (findings would also include red teeth, red diapers, hemolysis)
Name the only two AR inherited porphyrias?
CEP
&
HEP
Which porphyria has the same enzyme defect as PCT and what is it?
HEP (Hepatoerythropoietic Porphyria), and the defect is in Uroporphyrinogen Decarboxylase
Which porphyria is essentially an overlap between PCT and CEP?
HEP
In which porphyria is phlebotomy not effective?
HEP
Enzyme defect in AIP (acute intermittent porphyria)
Pophobilinogen deaminase (abdomen is painful, Please Barbituates Doc)
In AIP, name the findings in the: Urine Stool RBC Plasma
Acute Intermittent Porphyria: Urine: ALA, PBG Stool: normal RBC: normal Plasma: normal
Which porphyria has no skin findings?
AIP
Which porphyria has neurologic and psychiatric problems along wtih abdominal pain?
AIP - no skin findings!!!
What do you find in the urine of someone with psychiatric problems, abdominal pain, and a family history of AD porphyria?
Aminolevulinic acid (ALA) and Porphobilinogen (PBG)
This is Acute intermittent Porphyria! (AIP). There are no skin findings, only neuro and psychiatric findings associated with abdominal pain
Name some triggers of AIP
Drugs (barbituates) Stress Fasting Alcohol Hormonal changes Infections
How do you treat AIP attacks? (Acute intermittent porphyria)
Remove the trigger, glucose load, and hematin infusion
What do you find in the stool of an AIP patient (acute intermittent porphyria)
Nothing!
Only find ALA or PBG in the urine, nothing in the stool, RBC, or plasma
Name the findings in PAPA syndrome
Pyogenic Arthritis
Pyoderma gangrenosum
Acne
Mutation in PAPA syndrome
CD2BP1 (pyrin-interacting protein) like the familial med fever, muckle wells, ect
Patient presents with:
- Pyogenic Arthritis
- Pyoderma gangrenosum
- Acne
PAPA syndrome
PG
Acne
Arthritis
PAPA syndrome:
Pyogenic Arthritis
Pyogenic granuloma
Acne
Patient presents with: Acne Synovitis Palmoplantar pustulosis Hyperostosis Osteitis
SAPHO syndrome: Synovitis Acne (congoblata) Palmoplantar pustolosis Hyperostosis Osteitis
Name the findings in SAPHO syndrome
Synovitis Acne Palmoplantar pustulosis Hyperostosis Osteitis
Another name for Chronic recurrent multifocal osteomyelitis
SAPHO syndrome
What is the most common location of inflammatory bone changes in SAPHO syndrome?
Sternoclavicular joint
Name three systemic syndromes associated with acne:
PAPA syndrome
SAPHO syndrome
HAIR-AN syndrome
What are the findings in HAIR-AN syndrome?
HypernAdrogenism, Insulin resistance, Acanthosis Nigricans
This is listed in Jain as an acne related condition like PAPA/SAPHO
Gene mutation in Lichen Sclerosis
ECM-1 (extracellular matrix protein)
*also found in Lipoid Proteinosis
What derm condition is due to a defect in Extra-cellular Matrix protein?
ECM-1 Lichen sclerosis, Lipoid Proteinosis
Enzyme defect in AIP?
PBG (porphobilinogen deaminase)
AIP (Abdomen is painful….) BPD (please barbituates D/c) *bc barbituates are a trigger
What is the enzyme defect in Varigate Porphyria?
PPO (protoporphyrinogen oxidase)
ViPs get the PPO health insurance?
In Varigate Porphyria, what are the findings in the: Urine: Stool: RBCs: Plasma:
Urine: ALA/PBG
Stool: proto
RBC: normal
Plasma: flouresce
What wavelenth does the plasma of a person with Varigate Porphyria flouresce at?
626nm
Hereditary Coproporphyria has a defect in what enzyme?
CPO (coproporphyrinogen oxidase)
In Hereditary Coproporphyria, what are the findings in the: Urine: Stool: RBCs: Plasma:
HCP: Urine: ALA/PBG Stool: copro RBC: normal Plasma: doesnt flouresce?
In Hepatoerythropoietic Porphyria, what are the findings in the: Urine: Stool: RBCs: Plasma:
HEP-
Urine: uro
Stool: uro
RBCs: proto
Sarcoid presenting in children
Blau syndrome
What is Blau syndrome?
Child sarcoid
Which of the periodic fever syndromes do you NOT treat with anakinra?
Familial Mediterranean Fever - treat this one with colchicine instead!
What do you treat Familial Mediterranean fever syndrome with?
Colchicine! (You treat the other ones like Muckle Well and TRAPs with anakinra)
Child with: extreme photosensitivity
Bulla with subsequent mutilated scarring
Hypertrichosis
CEP
…also these kids have the erythrodontia and the red urine stains in the diapers
Child with erythrodontia
CEP (Congenital Erythropoetic Porphyria)
Name the clinical findings of CEP (Congenital Erythropoetic Porphyria)
Extreme sun photosensitivity
Bullae with mutilated scars
Erythrodontia
Red stains of urine in the diaper
What blood finding are kids with CEP at risk for?
Hemolysis
Kid with bulla and massive scaring and coproporphyrinogen in their stool. What enzyme is defective?
Uroporphyrinogen III cosynthase
Photosensitivity with burning
Heals with waxy scars
Liver enzymes elevated
Has to have gallbladder removed
EPP (Erythropoetic Protoporphyria)
-they gell porphyrin gallstones which leads to hepatic damage
Porphyrin gallstones
EPP
Tense bulla,erosions, milia and scarring on sun-exposed skin
Hypertrichosis on temples
Iron overload
Facial hyperpigmentation
PCT
Erbium:YAG laser can cause damage to which part of the eye?
Cornea (because erbium targets water)
Lasers that target pigment will damage the retina
Purely ocular form of cicatricial pemphigoid
Beta-4 integrin
Malignancy associated form of cicatricial pemphigoid
Laminin 5
What is the first/most common physical exam finding of cicatricial pemphigoid?
Oral involvement
Antibodies to collagen 7 causes what disease?
EBA
Defective gene for collagen 7 causes which disease?
Dystrophic EB
Drug most likely to cause BP?
Furosemide
Most common drug to cause linear IgA
Vancomycin
What size is the BPAG2 molecule responsible for linear IgA?
97kD
How big is BPAG2 causing BP?
180kD
Antibody associated with sclerodermoid changes in DM
Anti-Ku
Cardiac and poor prognosis in DM seen with what antibody
Anti-SRP
What are the most common cancers associated with DM in:
Men
&
Women:
Men - lung and GI
Women - ovarian
HLA-B51
Bechets
What HLA type is associated with Bechets
HLA-B51
Chronic candidal infections, vitiligo, thyroid problems
APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy)
Mutation in the AIRE gene
Family and genus of poison ivy
Anacardiacea family
Toxicodendron genus
Family and genus of poison sumac
Anacardiacea family
Toxicodendron genus
UVB spectrum in nm
290-320
Mast cells are found in greatest density in what part of the skin?
Papillary dermis
Acrokeratosis Paraneoplastica
Basex sign (multiple keratotic papules on the hands and feet as a sign of SCC Of the upper aerodigestive system, like esophageal SCC)
Multiple acral keratotic papules on the hands and feet in a patient with SCC of the esophagus
Acrokeratosis Neoplasticism (Bazex sign)
*Bazex syndrome is an XLD syndrome with lots of BCC, follicular atrophoderma an d
What layer of the epidermis are keratins 5/14 produced in?
Basal layer
What keratins are produced in the basal layer?
K5/14
What keratins are produced in the spinous layer?
Keratin 1/Keratin 10
What two diseases are due to decrease in lamellar granules?
Flegels disease
&
Harlequin Ichthyosis
What is the #1 component of the cornified envelope (stratum corneum)
Loricrin
What is the target of light-based acne therapy?
Coproporphyrin III
What androgen is produced by the adrenal glands?
DHEA
- testosterone is produced by the gonads, and then converted to DHT (most potent androgen) by 5-alpha reductase in the body
- DHEA-S is a weak androgen produced by the adrenal glands
Where are the androgen receptors located in the pilosebaceous unit?
In the basal layer of the sebaceous gland, and also on the outer root sheath
Name a side effect of isotretinoin
Diffuse idiopathic skeletal hyperostosis
Diffuse idiopathic skeletal hyperostosis is a rare side effect of what medication?
Isotretinoin
Do not take what kind of medications while on accutane
Tetracyclines (Can cause pseud
What vitamin excess can cause an acne form eruption?
B12
Second most common place to get osteolytic bone lesions in acne fulminans?
Ankle
Follicular occlusion triad/tetrad
Acne
Dissecting cellulitis of the scalp
Pilonidal cyst
HS
Name a few adrenal androgens
1-hydroxyprogesterone
DHEA-S
Lab finding in PCOS
Increased FSH/LH ratio
Name the chemical that most commonly causes industrial acne
2,3,7,8 tetrachlorobenzodioxin
Most common cause of industrial acne
Insolvable cutting oils
Distribution of industrial acne
Malar cheeks, retroauricular region, scrotum
Cephalic neonatal pustulosis
Neonatal acne
Acne causing a swollen, “wooden” ruddy face
Morbihans disease
Mutation in PAPA syndrome
Purine interacting protein - CD2 binding protein 1
PAPA syndrome mutation
CD2 binding protein 1
CD2 binding protein 1
PAPA syndrome(pyrine binding protein like in Muckle Wells, familial cold urticaria)
What infection do you worry about in someone who takes anti-biopics long term (acne-form eruption)
Gram-Negative Folliculitis (centrofacial pustules, perinasal)
Most specific Ab in drug induced lupus
Anti-histone Ab
Family of plants that causes phytophotodermatitis
Apiaceae (celery, parsley, parsnip, hogweed)
What is the most important component of a Baker Gordon peel?
Croton oil (a deep phenol peel)
Name an anti microbial peptide that results in the decreased risk of secondary infection in psoriasis
Human beta-defensin 2 (HBD2)
Also skin-derived anti-leukoproteinase SKALP, and secretory leukocyte protease inhibitor SLPI
What cell envelope protein is upregulated in psoriasis?
Involucrin
Strongest association with early onset psoriasis
Cw6
Associated with early onset psoriasis
B13, DR7, B17, B57
HLA associated with psoriatic arthritis
B27
HLA associated with guttate psoriasis
B13, B17, CW6
What is the Wornoff ring
Blanching area around a PSO plaque due to PGE-2
Risk factor for pustular psoriasis?
Hypocalcemia
Pustular psoriasis associated with what HLA type?
HLA-B27
What cytokine is high in the synovium of patients with psoriatic arthritis?
TNF-alpha (Why TNF-A inhibitors work)
Von Zumbusch
Generalized pustular psoriasis
What’s the most common drug that causes PR?
ACE-Inhibitor (Captopril, Lisinopril)
What hastens the resolution of PR?
Erythromycin
What is the classic type of PRP?
Type I
What’s the most common type of PRP in children?
Type VI (Type III is the classic but Type VI is the most common)
Most common type of arthritis in psoriatic arthritis
Asymmetric oligoarthritis
Most common cause of flare of PRP
Phototherapy
Pathopneumonic for Reiters syndrome
Circulate balanitis
Name two findings in Reiters syndrome
Keratoderma blenorrhagicum
Circulate Balanits
What should you avoid if you have a latex allergy?
Avocados
Most common allergic reaction to what color tattoo pigment
Red tattoo pigment
Most common (pigmented) fixed drug reaction to which drug
Tetracycline
Most common non pigmented fixed drug cause
Pseudoephedrine
Most common fixed drug in children
Bactrim
1 cause of pityriasis amniacea
Psoriasis
What percent of psoriatic arthritis patients have psoriatic arthritis?
30%
Does psoriatic arthritis correlate with psoriasis disease severity?
Yes
HLA type associated with psoriatic arthritis
HLAB27
Collection of neutrophils in the stratum spinosum in psoriasis
Micropustule of Kogoj
Microabcesses of Munro and in the stratum corneum
Micropustules of Kogoj
Collections of neutrophils in the stratum spinosum in psoriasis
Topical retinoid used for treatment of psoriasis
Tazorac (tazarotene)
What type of light therapy is best used in guttate psoriasis flares
Broad-band UVB (vs NVUVB for other types of psoriasis)
What is the only systemic retinoid used for psoriasis
Acitretin
In which two types of psoriasis is acitretin effective mono therapy
Erythrodermic and pustular psoriasis
Name of the sign in psoriasis where you scrape off a scale to find pinpoint bleeding
Auspitz sign
Treatment of choice for impetigo herpetiformis (pustular psoriasis in pregnancy)
Early delivery, prednisone
Which type of PRP is the only focal type?
Type IV
What does type V PRP entail?
Atypical juvenile form - basically PRP with sclerodermoid changes on the hands and feet
Most common drug causing PR
ACE-inhibitors
Drug will hasten the resolution of PR
Erythromycin
New gene defect found in alopecia areata
ULBP3
Lab finding in patients with familial alopecia areata
Thrombocytopenia
#1 symptom of erythroderma AND #1 extracutaenous finding of erythroderma
- Pruritis
2. Lymphadenopathy
Most common cause of erythroderma in healthy patients
AND
Most common cause of erythroderma in HIV patients
- Psoriasis
2. Drug
Where does CARP usually start?
Inframammary
Treatment for CARP
Minocycline
Variant of CARP on the neck with vertically oriented lesions with wrinkling
Psuedoatrophoderma colli
Psuedoatrophoderma colli
Variant of CARP on the neck with vertical plaques and wrinkled skin
Cytokines and cell types in chronic atopic derm
TH1 cells and IFN-y
Cytokines and cell types in acute AD
TH2 cells, and IL-4, IL-5, IL-12, IL-13
Mutation associated with early onset atopic derm
Fillagrin
Hertoge sign
Loss of lateral eyebrows in atopic derm
Ocular findings in atopic dermatitis
Posterior subcapsular cataracts
Keratoconus (elongation of the cornea)
Keratoconus
Elongation of the cornea (see in atopic derm)
Food allergy is what type of allergic reaction
Type I
Atopic dermatitis one week before period
Progesterone dermatitis (occurs with the LUTEAL phase - 1 weeks before period and resolves a few days after menses)
Most common cause of ACD worldwide
Nickel
Most common cause of ACD in the USA
Poison ivy (nickel is worldwide)
ACD is what type of hypersensitivity reaction?
Type IV (delayed type)
What is the most common site of an ICD?
The hands
Face is #2!
UVA spectrum
320-400nm
How long after contact with allergic do you get a phytophotodermatitis?
24-72 hours
What two things are required to create a phytophotodermatitis?
UVA (320-400nm) and a fucocoumarins
Phytophotodermatitis caused by which spectrum of light?
UVA (320-400)
What is berloque dermatitis?
Phytophotodermatitis from a cologne containing bergamot oil
What chemical causes Beloque dermatitis
Berganot oil (found in men’s colognes)
What flower is the #1 cause of ACD in florists?
Tulip!
What nail product is the most common cause of eyelid dermatitis?
Tosylamide
Tosylamide
Nail product that is the most common cause of eyelid dermatitis
What fabric finisher is one of the most commons causes of clothing dermatitis?
Formaldehyde
What clothing dye is one of the most common causes of clothing dermatitis?
Disperse blue dyes 106 and 124
What is EBA most commonly associated with?
Crohn’s disease/IBD (most commonly) >multiple myeloma
Antigen in EBA
Type VII collagen (major component of anchoring fibrils)
Aquired diseases against Type VII collagen
EBA
Bullous Lupus
HLA type present in 97% of DH patients
HLA-DQ2
Most common autoimmune association with dermatitis herpetiformis (besides celiac)
Hashimoto’s thyroiditis> IDDM > pernicious anemia
Name three foods gluten is NOT found in
Oats, rice, corn
IS found in wheat rye and barley
Antigenic byproduct of gluten
Gliadin
Skin antigen in DH, and gut antigen found in dermatitis herpetiformis
Skin: Transglutaminase 3
Gut: Transglutaminase 2
(Side note - Transglutaminase 1 is mutated in Lamellar Ichthyosis, and transglutaminase 1 is found in the granular layer and is the enzyme responsible for the cornified cell envelope)
Dermatitis herpetiformis has what kind of infiltrate in the dermal papilae?
NEUTROPHILIC
How many patients with DH have SYMPTOMATIC IBD?
20%
But *90% have some form of celiac on biopsy, its just not always active
Dermatitis Herpetiformis is almost indistinguishable in real life from what other blistering disorder?
LABD
Linear IgA bullous dermatosis in childhood
Chronic Bullous Dermatosis of Childhood
What does DH look like on path?
Granular IgA deposits in the dermal papillae on DIF. On H&E will be a neutrophilic infiltrate in the dermal papillae
What serologic test has a high sensitivity
Anti-endomysial
You would think it would be anti-gliadin but that one actually give high false positives
Treatment of choice for dermatitis herpetiformis
Dapsone
Only treats the skin, has no effect on the GI tract
What is second line treatment for Dapsone if it is not tolerated in linear IgA and DH?
Sulfapyridine (good response with less hemolysis risk)
What DH treatment controls both skin and GI disease and is the only way to decrease risk of a MALT lymphoma?
Gluten free diet. (Dapsone only treats the skin in DH)
DH patients are at risk for what kind of cancer?
MALT lymphoma
What substance should you avoid in DH to prevent a flare?
Iodide
SJS/TEN can have antibodies against what cell protein?
Desmoplakin I
Eosinophilic accesses seen in:
Pemphigus Vegetans
Anti-dsDNA, anti-Smith
SLE, Lupus nephritis
Anti-dsDNA
SLE, lupus nephritis, *early onset *correlates with disease activity
Anti-rRNP
Neuropsychiatric SLE
Anti-Ro (SSA)
Anti-La (SSB)
Mild systemic lupus
SCLE
Neonatal lupus - congenital heart block
Anti-histone
Drug induced lupus
Anti-KU
Polymyositis
Anti-ssDNA
Risk of SLE in DLE
What antibody indicates increased risk of SLE in DLE patients
SsDLE
99% of patients with neonatal lupus with congenital heart block have this antibody
Anti-Ro
75% of SCLE patients have this antibody
Anti-Ro
Highly specific antibody for lupus nephritis
DsDNA
Antibody indicating an increased risk in DLE patients to develop SLE
SsDNA
Two antibodies highly specific for SLE
DsDNA and anti-Smith
Antibody highly specific for SCLE
Anti-Ro
Antibody found in neuropsychiatric lupus
rRNP
Name most common location for venous stasis leg ulcer
Medial supramalleolar region
Degos Disease
Malignant atrophic papulosis (form of vascular disorder with red papules that evolve into porcelain white scars on the extremities)
Malignant atrophic papulosis
Degos disease
Dowling-Degos
Reticulated pigmented anomaly of the flexures
What is the initial presenting sign of scleroderma (systemic sclerosis) in >50% of patients?
Pitting edema of the digits. The other 50% is Raynauds
Systemic Sclerosis (Scleroderma) antibodies:
Anti-centromere
Anti-topoisomerase (Scl-70)
Anti-RNA polymerase
Which systemic sclerosis/scleroderma antibody is associated with pulmonary HTN?
Anti-centromere (this one is also most closely associated with CREST)
Which scleroderma antibody is associated with pulmonary fibrosis?
Anti-Scl (anti-topoisomerase). *this is the one also most closely associated with systemic sclerosis in general
Which scleroderma antibody is most closely associated with severe skin involvement and renal crisis?
Anti-RNA polymerase
Anti-topoisomerase
Also known as anti-Scl: marker for systemic sclerosis/scleroderma
Anti-Fibrillarin
Associated with internal organ involvement for systemic sclerosis
Name the findings in CREST syndrome
Calcinosis cutis Raynauds Esophageal dysmotility Sclerodactyly Telangiectasias
Name the antibodies found in Scleroderma
Anti-centromere : CREST, pulmonary hypertension
Anti-topoisomerase (anti-RNP): Sscl, pulmonary fibrosis
RNA Polymerase: skin, kidneys
Fibrillan : a/w internal organ damage
What is the nail finding in severe progressive systemic sclerosis
Pterygium inversum unguis (extension of the hyponychium on the undersurface of the nail plate)
Most common site of visceral disease in systemic sclerosis (scleroderma)
GI (90%)
- associated with significant morbidity but almost no mortality
- the most common cause of death in Sscl is pulmonary
What medication will decrease the risk of a renal crisis in systemic sclerosis?
ACE-I
New biomarker for skin and lung involvement in scleroderma/systemic sclerosis
CXCL4
What type of morphea is most common in adults? In children?
Adults: plaque type morphe
Children: linear morphea
What cell marker do you see in both morphea and scleroderma
TGF-B *stimulates fibroblast production
Morphea is associated with what organism in Europe and Japan?
Borriela afzelii, Boriella garinii
Which antibodies are a/w linear morphea in children?
Anti-ssDNA (*important bc a/w significant morbidity)
Brunstein Perry vs Perry Romberg
Brunstein Perry- cicatricial pemphigoid limited to head and neck with scarring alopecia & w/o occular findings
Perry-Romberg- unilateral atrophy of the face d/w morphea
Ss-DNA antibody
A/w linear morphea in children
&
A/w progression of DLE to SLE
What anti-body is characteristic of linear morphea in children?
ssDNA (sidenote it is also associated with progression of DLE to SLE)
Morphea of the face leading to hemiatrophy
Perry-Romberg
Morphea of the scalp
En Coup de Sabre
Atrophoderma of Pasini
Sharp “cliff drop” of normal skin (this is a type of morphea)
Linear atrophoderma of Moulin
More benign localized variant of atrophoderma of Pasini, a type of morphea
Linear form of atrophoderma (type of morphea)
Linear atrophoderma of Moulin
What antibodies do all morphea patients lack that scleroderma patients have?
Anti-Scl70 (topo-isomerase I)
Anti-centromere
*morphea has anti-topoisomerase II! NOT 1
Treatment of choice for moderate to severe morphea
MTX
High U1RNP titers are seen in what auto-immune disease
Mixed Connective tissue disease MCTD
Antibody marker in MCTD
HIGH titers of U1RNP. Also see a speckled pattern ANA
U3RNP
U1RNP
What are they?
U3RNP - same this as anti-fibrillan. Seen in Systemic sclerosis a/w internal organ involvement
U1RNP - high titers seen in MCTD
Type I keratins -
which ones are they?
are the acidic or basic?
What chromosome are they derived from?
Type I keratins are acidic. K9-28. Chromosome 17
Type II keratins-
Which are they
Are they acidic or basic
What chromosome are they derived from?
K1-8
Basic
Chromasome 12
K1/K10 found in what layer of the skin
Stratum spinulosum (and really anything suprabasilar)
K1,K9 found where?
Palmoplantar skin
Which keratins are increased in warts in immunosuppressed persons?
K4,13
Name ALL the lab findings in Chung-Strauss
Increased IgE
Increased MPO (myeloperoxidase antibody -this is actually p-anca)
P-Anca
What does ANCA stand for?
And what are they antibodies against?
Anti-neutrophil cytoplasmic antibodies
They are auto-antibodies against various lysosomal enzymes
Another name for P-ANCA
Anti-myeloperoxidase antibody
Another name for C-ANCA
Anti-proteinase 3 (PR-3)
Anti-proteinase 3
C-ANCA (Wegeners)
Anti-Myeloperoxidase
P-ANCA (Churg Strauss)
Small vessel vasculitis with skin nodules, livedo
Granulomatous vasculitis of the lungs (asthma,allergic rhinitis)
Can affect GI tract, heart
- Does this have P-ACNA or C-ANCA?
P-ANCA this is Churg Strauss
Systemic vasculitis involving respiratory tract
Granulomatous vasculitis involving kidneys
Mucosal involvement - oral ulcers, friable gingival
Skin ulcers and nodules looks like PG
Does this have a P-ANCA or a C-ANCA lab value?
C-ANCA this is Wegeners
Which vasculitis can have red friable gingival, oral ulcers, and ulcers on the body which resemble PG?
Can also affect kidneys
Wegeners (P-ANCA/Anti-proteinase-3)
Which types of cryoglobulinemia are associated with RF?
Types II,III (the mixed cryoglobulinemias)
What underlying associations are found in cryoglobulinemia types II,III
HCV, autoimmune disorders
What clinical findings do you see with types II, III cryoglobulinemia?
Palpable purpura, glomerulonephritis, peripheral neuropathy
Which cryoglobunemias are mixed?
Types II, III
What is the difference between II, III type cryoglobulinemia?
Type II - Monoclonal IgM, Polyclonal IgG
Type III- Polyclonal IgM, Polyclonal IgG
What treatment worsens the peripheral neuropathy found in cryoglobulinemia Type II/III?
Interferon
What treatment should you not give someone who is having peripheral neuropathy associated with a cryoglobulinemia?
Interferon (of note, peripheral neuropathy occurs with types II, III)
Which type of cryoglobulinemia do you get a peripheral neuropathy?
Types II, III
Which type of cryoglobulinemia is associated with HCV?
How about autoimmune diseases like lupus?
All types II/III
What type of antibodies are found in cryoglobulinemia type I?
Monoclonal IgM>IgG
*and remember NO rheumatoid activity
In which type of cryoglobulinemia is rheumatoid factor not associated?
Type I
What underlying association is found in cryoglobulinemia type I?
Lymphoproliferative disorders
Which type of cryoglobulinemia are leukemias associated with?
Type I
Which type of cryoglobulinemia is Raynauds, purpura, acrocyanosis, and arterial thrombosis found in?
Type I
Name some clinical findings of Type I cryoglobulinemia?
Raynauds, arterial thrombosis, purpura, acrocyanosis
What do you treat atrophe Blanche in anti-phospholipid syndrome with?
Anti-malarial
What is the most specific antibody found in anti-phospholipid syndrome. How about the most common?
Specific- anti-beta2-glycoproteins
Most common - anti-cardiolipin
How long after starting heparin do you see heparin induced thrombocytopenia?
5-10 days
What kind of mutation is associated with erythromelalgia in myeloproliferative disorders?
JAK-2
Gene defect in paroxysmal nocturnal hemiglobinuria
PIG-A gene, treat with eculizumab
Cancer a/w acanthosis nigricans
GI adenocarcinoma (gastric)
Cancer a/w aquired angioedema
Lymphoproliferative disease
Aquired diamond shaped scale on the legs (aquired ichythiosis) a/w with what cancer
Hodgkins and NHL (same as aquired angioedema)
Cicatricial localized loss of hair a/w with what kind of cancer
Metastatic Breast (called alopecia neoplastica)
Primary amyloidosis looks like what and is associated with what malignancy
*perioribital pinch purpura
A/w multiple myeloma
Bazex sign
Also called acrokeratosis neoplastica
*a/w upper aerodigestive tract Squamish
Can occur on the ears also
What chemical do you test in the urine if you suspect someone has a carcinoid tumor
5-HIAA (hydroxyindoleactetic acid), a serotonin metabolite
Flushing
Pellagra-like dermatitis
Erythema
Carcinoid syndrome
Erythema gyratum repens a/w what malignancy
Bronchogenic carcinoma
Sudden growth of downy hair in an adult a/w what cancer
Hypertrichosis lanuginosa acquisita
*a/w lung and colon (b/c a hairy mans chest covers both)
Cancer a/w necrolytic migratory erythema
Pancreatic (alpha-cell tumor)
What type of pancreatic cancer is a/w necrolytic migratory erythema
Alpha-cell tumor
NXG a/w what type of cancer?
Myeloma, occasionally a paraproteinemia
Sign of Leser-Trelat a/w what cancer
- suddern eruption of SKs
* a/w gastric, colon, breast
Sweets syndrome a/w what malignancy
AML
Tripe palms
- acanthosis palmaris
- a/w Lung cancer (if only palms)
- but if it also has acanthosis nigricans then it is still gastric cancer
Trousseau sign
*migratory thrombophlebitis, a/w pancreatic cancer
Sister Mary Joseph Nodule
Nodule in the belly button a/w stomach, bowel cancer
Eruptive xanthomas a/w with what condition?
Diabetes
What type of scleroderma is related to DM?
Scleroderma of Buschke (Type III scleredema)
What is madarosis
Alopecia of the lateral 1/3 of eyebrows (seen in Hypothyroidism)
What is necrolytic acral erythema seen in?
Hep C
Hep C patient has hyperpigmented hyperkeratotic lesions on the hands and feet, what is this?
Necrolytic acral erythema
Nephrogenic systemic fibrosis a/w what condition?
ESRD
NSF is seen in ESRD patients with exposure to what chemical?
Gadolinium based contrast material
Who do you not want to give gadolinium based contrast material to? And why?
ESRD patients, bc it will cause NSF
Glossitis and pinch purpura see in what
Amyloidosis
A patient on chronic hemodialysis gets carpal tunnel and back pain - what should you suspect
Hemodialysis associated amyloidosis *deposition of beta-2-microglobulin into synovial membranes
Protein in hemodialysis associated amyloidosis
Beta-2-microglobulin
Beta-2-microglobulin
Type of amyloid found in hemodialysis associated amyloidosis
Amyloid causing cardiomyopathy, inherited type and aquired
ATTR/TTR (transthyretin) which is a protein that transports thyroxine and retinol
Protein see in familial amyloidosis
TTR
Melkerson-Rosenthal syndrome
Oreo-facial granulomatosis
Triad of facial nerve palsy, fissured tongue, granulomatous chelitis (swelling of gums and lips)
Eosinophilic Granuloma
Localized benign form of Langerhans Cell Histtocytosis
Feature of a poor prognosis in LCH?
BRAF V600E
BRAF V600E
Indicates a poor prognosis in LCH
What common progenitor cell do all the histiocytosis disorders share?
CD34+
First line treatment for Staph Scalded Skin Syndrome
Clindamycin
Basal ganglia calfications
Cockayne Syndrome
Most common cause of drug induced dermatomyositis
Hydroxyurea (can also be caused by statins)
Mechanics hands
Strongly associated with anti-syntheses syndrome (form of dermatomyositis)
Palmar papules in dermatomyositis associated with what antibody?
Anti-CADM-140 *cadbury eggs in the palms
What is the PRP Dermatomyositis overlap syndrome called?
Wong-type dermatomyositis
Juvenile Dermatomyositis associated with severe vasculitis is called
Bankers variant juvenile dermatomyositis -cutaneous ulceration Muscle infarction GI perforation Widespread calcinosis Severe course with poor prognosis
. *hemorrhaging money
Child with juvenille DM gets rapid cutaneous ulceration, muscle infarction, perforating bowel, widespread calcinosis, what is this called?
Banker’s variate- juvenille DM
What finding in DM is actually a good prognostic factor?
Raynauds
Raynauds Mechanics Hands Interstitial lung disease Non-erosive arthritis Anti-synthetase antibodies Dermatomyositis
Anti-synthetase syndrome! *boards favorite
Name the findings in anti-synthetase syndrome
DM Raynauds ILD Mechanics hands Non-erosive arthritis Anti-synthetase antibodies
What is a clinical difference between drug induced hydroxyurea caused Dermatomyositis and non-hydroxyurea induced?
Hydroxyurea induced DM NEVER has muscle involvement(and it can start really late - like 60 months after initiation) and non-hydroxyurea ALWAYS has muscle involvement (starts 2 months after the drug)
Most common cause of death in dermatomyositis?
Malignancy
In DM, which usually occurs first - skin or muscle findings?
Skin findings usually precede muscle findings by 2-3 months
Cicatricial pemphigoid with scalp involvement, scarring alopecia, and no mucosal involvement
Brunsting-Perry Variant
Brunsting-Perry
Variant of cicatricial pemphigoid with no mucosal involvement, but head and neck involvement with scarring alopecia
First line treatment for eosinophilic pustular folliculitis (Ofujis)
Indomethacin
Leading infectious cause of deafness
CMV infection of the newborn
Blueberry muffin baby
Leading cause of deafness
Owl eye nucleous
CMV
What can be the presentation of CMV in HIV patients?
Lower extremity ulceration
GI erosions
Perianal erosion
Chorioretinitis
Complication of Roseola
Febrile seizures
Castlemans is caused by what virus?
HHV-8
What virus is primary effusion lymphoma associated with
HHV8 (same as Castlemans, Kaposis)
What structure in the body (skin) is the target of HPV?
Basal layer
What cryo temperature do you need to get to destroy:
BCC/SCC
Wart
Melanocytes
BCC/SCC: -50
Wart: -20
Melanocytes: -5
People with EDV have malignant transformation of warts to SCC in what percentage of patients?
50%
HPV types Hecks disease
13, 32
HPV types 13, 32 are what disease?
Hecks Disease
In EDV, what is the most common HPV types that will progress into SCC?
5,8
Langerhans cell stains and markers
S100+, CD1A+, Langerin (CD207)
*CD207 is the most specific, stains Birbeck granules
50% of NXG patients have what kind of complication
Opthalmic
Send all NXG patients to what specialty
Optho (>50% of them get ocular complications)
&
HemeOnc (>80% have an IgG monoclonal gammopathy)
> 80% of NXG patients have what finding?
IgG monoclonal gammopathy
What type of monoclonal gammopathy do 80% of NXG patients get?
IgG
Location of multicentric reticulohistiocytosis
Head, dorsal hands, periungal “coral bead” appearance (papules along periungal region)
What other organ systems are affected in multicentric reticulohistiocystosis
Mutilating arthritis
Nasopharyngeal involvement
Solid organ malignancy in >30%
Solid organ malignancy found in what percentage of multicentric reticulohistiocytosis?
30%
Most common skin site for Rosai-Dorfman disease?
Eyelid>malar cheek
S100 is negative in all non-langerhans cell histiocytosis except which two diseases?
Rosai-Dorfman & Indeterminate cell histiocytosis (ICH)
What clinical findings make up the xanthoma disseminatum triad?
Cutaneous xanthomas
Mucosal xanthomas
Diabetes insipidus
What lab findings are found in xanthoma dissiminatum
Normolipemic
Monoclonal gammopathy
Plasma cell Dysplasia
Monoclonal gammopathy associated with plane xanthoma
IgG
Monoclonal gammopathy associated with Sweets
IgA
Monoclonal gammopathy associated with Primary amyloidosis (AL)
IgG
Monoclonal gammopathy associated with NXG
IgG kappa
Monoclonal gammopathy a/w Scleredema
IgG kappa
Monoclonal gammopathy a/w Scleromyxedema
IgG Lambda
Monoclonal gammopathy a/w Pyoderma gangrenosum
IgA
Monoclonal gammopathy a/w EED
IgA
Monoclonal gammopathy a/w POEMS syndrome
IgA, IgG
Monoclonal gammopathy a/w Waldenstroms macroglobulinemia
IgM
Which familial hyperlipidemias have eruptive xanthomas?
Type I, IV, V. (Types 2-3 have tuberous and tendinous xanthomas)
Which familial hyperlipidemias do NOT carry an increased risk for coronary artery disease?
Type I, IV, V (the ones who have increased triglycerides, eruptive xanthomas)
*its like the triglycerides seep out into the skin and into the pancreas so they dont have time to mess with the heart
Which types of familial hyperlipidemias have a creamy top layer in the serum?
All of the ones with increase triglycerides - so Type I, IV, V
Name the defect in familial hyperlipidemia type I
Decrease in lipoproteins lipase (LPL) or Apolipoprotein CII defect
Which familial hyperlipidemias have increased risk for pancreatitis
Type I, V (same ones that are associated with eruptive xanthomas)
Eruptive xanthomas,
DM
Obesity
Alcoholism
Type IV hyperlipidemia
Xanthoma striatum palmare associated with what type of hyperlipidemia
Type III (Apoprotein E)
Defect in Type IV hyperlipidemia
Increased production of VLDL
Defect in types II, III familial hyperlipidemia
LDL receptor
In which familial hyperlipidemias do you see xanthelasma?
Types II, III
Hundreds of xanthomas with FLEXURAL predilection, NORMOLIPEMIC, associated with diabetes insipidus
Xanthoma disseminatum (can be associated with monoclonal gammopathy too)
Besides hyperlipidemia, what other condition can you see xanthomas associated with?
Primary biliary cirrhosis
Triglycerides must be greater than what number for eruptive xanthomas to form?
> 3000
Tendinous xanthomas are usually found on what structure and are found in which familial hyperlipidemia?
Found on Achilles’ tendon
Usually associated with Type II hyperlipidemia
Dysbetalipoprotienemia is also known as which familial hyperlipidemia as the pathopnuemonic characteristic is what finding?
Type III familial hyperlipidemia,
Xanthoma striatum palmare
What are the preformed ingredients released from mast cells in urticaria?
CHT* having a chat
Chymase
Tryptase
Histamine
Heparine
Newly formed mediators released from mast cells during urticarial reaction
Protaglandin D2
Leukotriene C4/D4/E4
Platelet activating factor
Name the causes of immunologic urticaria
IgE mediated (Type I hypersensitivity reaction)
Complement-dependent
Immune complex deposition (serum sickness)
Autoantibodies (anti-IgE, anti-FceRI) *chronic urticaria
What drugs are most often implicated in urticaria
Antibiotics NSAIDs Allopurinol Sulfa Opiates Radiocontrast Polymyxin B
ACE-I (like captopril) causes angioedema through unregulated generation of what substance?
Bradykinin
What does CI-INH do?
Prevents spontaneous activation of the complement system (serine protease inhibitor)
Which complement factor is low in all types of hereditary and aquired angioedemas?
C4
*C3 is always normal!
What are the natures of the levels of C1-INH in type 1 vs type 2 hereditary angioedema?
Type 1= deficient C1-INH
Type 2= normal to high levels of C1-INH, they are just dysfunctional
Is C1q elevated, normal, or low in hereditary angioedema?
NORMAL C1q in hereditary angioedema (*it is low in aquired angioedema)
What would your labs show in hereditary angioedema? C4 C3 C1q C1-INH
Decreased C4
Normal C3
Normal C1q
Decreased C1-INH
What androgens do you treat hereditary angioedema patients with?
Danazol Stanazol
Treatments for hereditary angioedema
Anti-androgens including danazol and stanazol
Fresh frozen plasma before surgery
C1-INH
What lab value is decreased in Aquired angioedema that is normal in hereditary angioedema
Decreased C1q
C1q is decreased in which: acquired angioedema vs hereditary angioedema?
C1q is decreased in aquired angioedema
Which is the only type of angioedema in which the C1-INH level is normal or even increased?
Hereditary angioedema Type II (where the C1-INH is dysfunctional, instead of type 1 where it is absent)
Which aquired angioedema is associated with lymphoproliferative disorders?
Aquired angioedema Type I
Type I aquired angioedema is associated with what other diseases?
Lymphoproliferative disorders/ B cell lymphoma, multiple myeloma ect
Which type of angioedema requires more C1-INH during an attack: aquired or hereditary angioedema?
Aquired angioedema requires quite a bit more C1-INH during an attack
Type of tumor associated with necrolytic migratory erythema
Pancreatic tumor (alpha-cell tumor), and if the patient is losing weight and gets DM it is probably a glucagonoma
New onset severe intertrigo could be linked to what kind of tumor?
Pancreatic tumor (necrolytic migratory erythema)
What percentage of NXG patients have a monoclonal gammopathy, and what is it?
80%
IgG
Which conditions have an IgG gammopathy and what type are they?
NXG - IgG kappa
Scleromyxedema - IgG lambda
Anti-Ku is what kind of protein?
DNA repair protein (p70/p80 nucleoli protein)
DM antibody a/w calicinosis cutis
P140
Relapsing polychondritis a/w antibodies against which type of collagen?
Collagen type II
1 cause of mortality in patients with relapsing polychondritis
Pneumonia (due to involvement of the respiratory cartilage
Syndrome a/w relapsing polychondritis
MAGIC syndrome (mouth and genital ulcers with inflamed cartilage)= Bechets +relapsing polychondritis
What is MAGIC syndrome?
Mouth and genital ulcers with inflamed cartilage
I.e. = Bechets + relapsing polychondritis
Anti-matrilin-1 (extracellular matrix protein)
Relapsing Polychondritis
MAGIC syndrome has antibodies against what type of collagen?
Type II Collagen
*bc it is basically Bechets plus relapsing polychondritis (and polychondritis is against type II collagen
Systemic sclerosis has increased expression of what type of proteins?
Extracellular matrix proteins (ECM) from dermal fibroblasts
Systemic Sclerosis has increased deposition of which type of collagen?
Type III collagen
What percent of lichen sclerosis patients will develop into SCC?
5%
What other autoimmune diseases is lichen sclerosis associated with?
Pernicious anemia
Thyroid disease
Tumor in argentaffin cells
Mid gut tumor, gives you carcinoid syndrome.
What do you treat the head and neck flushing of carcinoid syndrome with?
Cyproheptadine
What do you look for in the urine of people with carcinoid syndrome?
Increased 5-HIAA levels (hydroxyindoleacetic acid)
What drugs worsen AIP?
Barbituates
Griseofulvin
Sulfa drugs
Dont give which antifungal to a patient with AIP?
Griseofulvin
Antibodies in antiphospholipid syndrome
Anti-b2-glycoproteins
Lupus anticoagulant
Anti-cardiolipin
Antibodies found in Sneddons syndrome
Same as found in anti-phospholipid syndrome (anti-b2-glycoprotein, anti-cardiolipin)
*Snedden syndrome is like the worse form of anti-phospholipid syndrome, where you get multiple ischemic strokes, persistent livedo reticularis, livedo racemosa , labeled hypertension
Sneddons syndrome
The worse form of anti-phospholipid syndrome (all the same antibodies)
- livedo racemosa
- persistent livedo reticularis
- labile HTN
- recurrent ischemic strokes
What syndrome(s) is b2-glycoprotein found in?
Anti-phospholipid syndrome/ Sneddons syndrome
What do you treat atrophe Blanche leg lesions with in lupus associated anti-phospholipid syndrome?
Anti-malarial
Main presenting symptom in cholesterol emboli/warfarin blue toes syndrome
Livedo reticularis
How long after starting heparin do you see HIT (heparin induced thrombocytopenia)?
5-10 days
Gene mutation seen in erythromelalgia?
JAK-2
Treatment for erythromelalgia associated with JAK-2 mutation
Anagrelide or aspirin
Gene defect associated with paroxysmal nocturnal hemiglobinuria
PIG-A gene
Treatment for paroxysmal nocturnal hemiglobinuria
Eculizumab
Gene defect in TTP/HUS
ADAMTS13
Most common cause of death in Degos disease?
GI BLEED
NSF (Nephrogenic systemic fibrosis) is associated with what chronic condition?
ESRD, a/w exposure to gadolinium-based contrast
Which condition is a/w gadolinium-based contrast in patients with ESRD?
NSF
A patient with chronic kidney disease develops new onset hypertension, woody texture to skin, joint contractures, and tightness of the skin on the hands and the lower legs. What could this be?
NSF (nephrogenic systemic fibrosis/nephrogenic systemic sclerosis/nephrogenic fibrosing dermopathy)
What type of antibodies can NSF be associated with?
Anti-phospholipid antibodies
Anti-matrilin-1 protein
Relapsing polychondritis
Cancer a/w pityriasis rotunda
Hepatocellular carcinoma
Epidermal nevus could possibly be a mosaic form of what disease?
EHK
Type of amyloid in: Primary systemic amyloid Secondary systemic amyloid Hemodialysis associated amyloid Familial Amyloid Senile systemic amyloid
Primary systemic: AL light chain
Secondary: AA (amyloid associated protein, not immuno)
Hemodialysis associated: b2-microglobulin
Familial amyloid: ATTR (transthyretin)
Senile systemic amyloid (transthyretin)
Type of amyloid seen in primary systemic amyloidosis
AL (light chain)
Type of amyloid see in secondary systemic amyloidosis
AA (amyloid associated). This is the type of amyloid associated with systemic disease, like chronic RA, periodic fever syndromes and things like that
Type of amyloid seen in hemodialysis associated amyloid
B2-microglobulin
Type of amyloid seen in both familial amyloid and senile amyloid?
ATTR (transthyretin)
What is the shoulder pad sign?
Amyloid deposits around the periarticular soft tissue. Seen in primary amyloidosis
Why do ACE-I give you autoimmune urticaria?
Because they cause unregulated generation of bradykinin
Intertrigenous plane xanthomas are pathognomonic for which familial hyperlipidemia?
Homozygous familial hypercholesterolemia (Type II)
For paraneoplastic pemphigus:
Path resembles -
Target antigen -
Common cause of death-
Path resembles - EM
Target antigen - plains
Common cause of death- BOOP (bronchiolitis obliterans)
Common cause of death in paraneoplastic pemphigus
BOOP - bronchiolitis obliterans
Which autoimmune disorder is a/w hypergammaglobulinemic purpura of Waldenstrom?
Sjogren S
What oral endothelium receptor agonist may prevent new ulcers in systemic sclerosis?
Bosentan
EED is associated with what disease?
HIV
What treatment worsens peripheral neuropathy in cryoglobulinemia type II/III?
Interferon
Which cryoglobulinemias are associated with a peripheral neuropathy?
Type II/III
Permanent livedo reticularis a/w systemic arterial thrombi, labile HTN, neuro sxs
Sneddons syndrome
Eosinophilic pustular folliculitis (Ofujis) first line treatment:
Indomethacin
Magenta colored tongue
Riboflavin deficiency B2. *also get angular chelitis
AFX is a more superficial version of what tumor?
MFH (Malignant fibrous histiocytoma)
P. Acnes naturally produces what porphyrin?
Coproporphyrin III
What is the target of light based acne therapy?
Coprophyrin III p. 78 Jain
Where are the androgen receptors located in the epidermis?
- Basal layer of the sebaceous glands
2. ORS of the hair follicle
Which androgen is produced by which organ?
- Testosterone
- DHEAS
- DHT
- Testosterone - produced in the gonads
- DHEAS - weak androgen produced in the adrenal glands
- DHT - not produced anywhere! Testosterone is converted into DHT by 5-alpha reductase in the actual tissues themselves, like the hair follicles, the seminal vessicles, the skin, the penis
* circulating DHT is 1/20th of circulating testosterone
How does taking OCPs help PCOS?
It increases SHBG (sex hormone binding globulin), and decreases the amount of free testosterone
*fyi spironolactone blocks the androgen receptor
Most well known chemical causing industrial acne? (This is found as an irritant in agent orange)
2,3,7,8 tetrachlorobenzodioxin (most common chemical to cause chloracne)
Acne found on the malar cheeks, retroauricular, and scrotum
Chloracne
Name a common EDGFR that causes acne
Cetuximab
Autosomal dominant syndrome in which you get resistant acne and recurrent bone lesions
Apert syndrome
What is Apert syndrome?
AD- get bone defects and resistant acne
FGFR2
In what syndrome do you get pyogenic arthritis, acne, and PG?
PAPA syndrome (pyogenic arthritis, PG, acne)
*mutation in CD2BP1 aka PSTPIP1
What is another name for Apert syndrome?
Acrocephalosyndactyly
Another name for acrecephalosyndactyly
Apert syndrome (resistant acne plus bone lesions)
Polymorphisms in which TLR may be protective against acne fulminans?
TLR-4
Gene mutation in Apert Syndrome
FGFR2
Genoderm wtih rosacea-like eruption and verrucous lesions like SKs
Haber’s syndrome
What is Haber’s syndrome?
Genoderm with rosacea-like eruption and verrucous lesions like SKs
What cytokines are downregulated in the treatment of rosacea with azelaic acid?
Kallikrenin 5
*and also Cathelicidin!
Kallikrenin5
Cytokine that is downregulated with azelaic acid treatment for rosacea
What percentage of patients with rosacea have ocular rosacea?
50%!
Name some gram negative organisms that commonly occur in gram negative folliculitis
Enterobacter, Proteus, Klebsiella, E. Coli
Treatment of choice for Ofujis disease
Indomethacin
*Ofujis is eosinophilic pustular folliculitis, occurs in 30 year old Japanese men
What are the characteristics of the nerves that control sweating?
They are anatomically sympathetic but function as cholinergic
Freys syndrome is caused by disruption of what nerve?
Auriculotemporal nerve (of V1)
What chromosomal region is present in over 50% of Psoriasis patients and contains the cw6-allele? Also what chromasome is it on?
The PSORS1 (psoriasis susecptibility region)! Which is located on chromasome 6p
What chromosome is PSORS1 located on?
Chromosome 6p
What important gene does the PSORS1 allele contain?
Cw-6
Which psoriasis allele is most strongly associated with early onset and guttate psoriasis?
Cw-6
What two types of psoriasis is HLA-cw6 assciated with?
- Early onset
- Guttate
*and actually its found in over 50% of adult onset PSO patients as well
HLA B27 is associated with what three type of psoriasis?
Psoriatic arthritis
Sarco-ilitis-associated Psoriasis
Pustular psoriasis
Which allele is most strongly associated with:
- Pustular psoriasis
- Guttate psoriasis
- HLA -B27
2. HLA- cw6 (and actually B13/B17 as well)
Which cytokine upregulation in psoriasis is responsible for increased keritinocyte proliferation?
STAT-3
What two medications induce psoriasis quickly (<4 week period)?
Terbinafine, NSAIDS
What two medications induce psoriasis in an intermediate time frame? (4-12 week period?)
ACE inhibitors, antimalarials
What two medications induce psoriasis in a long term period? (>12 weeks)
Beta-blockers, lithium
What percentage of guttate pso patients progress to plaque type?
40%
What is the recommended treatment for impetigo herpetiformis
EARLY DELIVERY
What acne syndrome can palmoplantar-plantar pustulosis be associated with?
SAPHO
Number 1 cause of pityriasis amiantacea
PSORIASIS
What systemic do you use as monotherapy for erythrodermic and pustular psoriasis?
Acitretin
Which psoriasis variants do you use Acitretin for?
Pustular Psoriasis
Erythrodermic psoriasis
Which psoriasis medication should you not use in combination with salicylic acid?
Vitamin D analogs like Dovonex (calciptriol)
Which psoriasis medications should you not use right before NBUVB because it causes tumors?
Vitamin D analogs like dovonex (calcipotriol)
Name a couple of risk factors for pustular psoriasis
Hypocalcemia
Pregnancy (impetigo herpetiformis)
What lab will be decreased in a patient with pustular psoriasis?
Hypoalbunemia
Treatment of choice for pustular psoriasis
Cyclosporine
HLA type for pustular psoriasis
HLA-B27
Treatment of choice for palmoplantar pustulosis
Acitretin
Name a psoriasis medication that commonly causes gingival hyperplasia
Cyclosporine
Name some side effects of cyclosporine
HTN Nephrotoxicity Gingival hyperplasia HYPERkalemia/hypomagnesemia Gout
Most common childhood type of PRP
Type IV! (Type III is the type that is most like the adult form, type I, but actually type 4 is the most common in children and just presents with plaques on the hands and knees not generalized)
Characteristic of Type V PRP
Sclerodermoid changes
Characteristics of Type III PRP
Childhood PRP, similar to adult onset PRP. Not the most come (type IV is for kids)
What is the most common location for annular LP?
Penis
How long is the offending medication usually taken before drug-induced LP is seen?
Several months
Which form of LP carries a slight risk of SCC with longstanding lesions
Erosive or ulcerated LP (found in the oral mucosa and palmoplantar surface) of
Nail findings is nail LP
Dorsal pterygium
20+ nail dystrophy
Lateral thinning
Longitudinal ridging
Findings in Graham-Little-Piccardi-Lasseur syndrome
Type of lichoplanopilaris (LPP)=
Typical LP+scarring alopecia of the scalp+ nonscarring loss of axillary/pubic hair
Scarring alopecia, type of LP
Lichen planopilaris
Specific type of LPP, triad of follicular LP plus scarring alopecia of the scalp and nonscarring alopecia of the genitals
Graham Little Piccardi syndrome
What percentage of chronic GVHD patients arise from acute GVHD vs de novo?
It’s about 50/50!
What is the main cause of death in chronic GVHD?
Infection due to immunosuppression
Most common type of solid organ transplant to cause GVHD?
SMALL INTESTINE!!!
Single most important predictor of developing GVHD is what?
HLA compatibility
Which type of stem cell blood products carry the highest risk for developing GVHD? (Peripheral blood vs cord blood vs bone marrow)
Peripheral blood > bone marrow > cord blood
What type of blood treatments for stem cell transplants increase the risk for “delayed onset acute GVHD”
Non-myeloablative regimens
What is the most commonly affected organ in all GVHD reactions?
SKIN!
What monoclonal antibody is helpful in some cases of chronic GVHD?
Rituximab
What are two clinical findings which are very characteristic of acute GVHD?
Acral erythema
Violaceous hue on the ear
What other organs are commonly affected in addition to skin in acute GVHD?
GI tract and liver
How is liver severity assessed in acute GVHD?
By degree of bilirubin elevation
*extent of GI involvement evaluated by the amount of DIARRHEA
What drug has been shown to decrease the incidence of visceral GVHD?
Maraviroc (CCR5 inhibitor)
*note that it decreases visceral involvement like GI and liver but NOT anything in the skin
What cytokine does Maraviroc inhibit?
Maraviroc is a CCR5 inhibitor. It decreases the incidence of visceral (not skin GVHD)
What CCR5 inhibitor decreases the incidence of visceral GVHD?
Maraviroc
1 site for LP
Oral/mucosal
What percentage of patients with oral LP will develop skin LP?
Only 10%!
Shulmans Syndrome
Eosinophilic Fascitis
What types of cells does LP lack?
Eosinophils and parakaratosis! (With the exception of drug induced LP and oral LP
Treatment of choice for Erythema Dyschromicum perstans
Clofazamine! (Weird. Usually for treating leprosy)
Where does impetigo herpetiformis start usually?
In the groin! - then spreads to flexures
Risk to fetus with impetigo herpetiformis
Placental insufficiency
Stillbirth
Neonatal death
A/w hypocalcemia
Does impetigo herpetiformis occur again with subsequent pregnancies?
YES and also OCPs
What trimester does impetigo herpetiformis usually occur in?
Third trimester
Which trimester does prurigo of pregnancy occur in?
First *most of the other dermatosis occur in the third
Treatment for Intrahepatic cholestasis of pregnancy? And what does this do?
Oral ursodeoxycholic acid - this decreases serum bile acid levels
Risk to fetus with intrahepatic chol. Of pregnancy
Prematurity
Stillbirth
Fetal distress
Risk to fetus in PUPP
NONE!!!
Which trimester does PUPP usually show up?
THIRD
Treatment for PUPP
Topical steroids
Which pregnancy does PUPP occur in usually
The first. Does not usually recur with subsequent pregnancies
Risk factor for PUPP
Multiple gestational pregnancies
Risk to fetus with pemphigoid gestationis
Prematurity and SGA
What non-pregnancy diagnosis can pemphigoid gestationis occur in?
Choriocarcinoma
What disease are patients with pemphigoid gestationis at risk for post partum?
Graves
Which HLA types are pemphigoid gestationis patients strongly associated with?
HLA DR3-DR4
Which pregnancy dermatosis does not usually recur with subsequent pregnancies?
PUPP is the only one.
Which pregnancy diagnosis spares the umbilicus and which one involves it?
PUPP spares the umbilicus and pemphigus gestationis involves it
Side effect of Bexarotene
Reversible hypothyroidism
Which retinoid causes a side effect of reversible hypothyroidism
Bexarotene
What sort of thyroid dysfunction is Bexarotene associated with?
Reversible HYPOthyroidism
What kind of drug reaction does azathioprine cause?
SCLE-like reaction! It’s known for this
another name for Von Hebras disease?
EM minor
How many weeks prior does herpes labialis usually precede EM?
3 weeks
Cases of EM caused by Histoplasma capsulatum usually also have what other concomitant condition happening at the same time?
Erythema nodosum
Erythema Nodosum plus EM together - which type of infection should you be suspicious of?
Histoplasma Capsulatum
Most common cause of EM major
Mycoplasma >HSV (Hocker)
What is a useful clinical tool to distinguish EM from SJS/TEN?
EM will be PAPULAR and elevated, distributed in the head and neck, and then the acral areas
VS
SJS/TEN will always be more macular
HLA type of Asian/East Indian people with high risk for SJS/TEN due to carbamazepine
HLA-B1502
*HLA B3101 is Europeans exposed to carbamazipine
HLA-B5801 Han Chinese exposed to allopurinol
Which drug taken by patients of East Indian/Asian decent increases their risk for SJS/TEN, and what is their HLA type?
Carbamazepine
HLA -B1501
*HLA 3101 is Europeans taking carbamazipine
HLA type in Han Chinese exposed to allopurinol with increased risk for SJS/TEN
HLA-B5801’
What is the main cellular mediator of apoptosis in SJS/TEN?
Granulyisin
Granulysin
The main mediator of apoptosis in SJS/TEN
Which cellular mediator in SJS/TEN leads to activation of caspases and then eventually apoptosis?
The binding of Fas/FasL
In regards to SJS/TEN, Which anticonvulsant does NOT cross react with other medications in its class?
Valproic acid
*Lamotrigine does not cross react with aromatic anticonvulsants
T/F you can get respiratory involvement in SJS/TEN?
TRUE - in fact in 25%
Where do SJS/TEN lesions typically start on the body?
On the trunk! (Vs EM usually on the face and acral)
What is the only vital sign in the SCORTEN criteria (SJS/TEN)
HR
SCORTEN Age (>40yrs) Associated malignancy HR BUN Glucose Serum bicarbonate >10% BSA
What are the only 3 lab values in the SCORTEN criteria?
Serum BUN
Serum bicarb
Glucose
*TAMEBUG Tachycardia Age Malignancy Epidermal loss Bicarb Urea Glucose
How many points on the SCORTEN criteria give you a >90% mortality rate for SJS/TEN?
5
Which point of the SCORTEN criteria is the single most important risk factor for mortality?
Serum BICARB
FDA recommends screening for which HLA type before giving abacavir?
HLA-B5701 *HIGH RISK FOR SJS/TEN!!!!
HLA-B1507 a/w high risk of what disease?
SJS/TEN after giving ABACAVIR!
Which drug carries a high incidence of SJS/TEN in patients who are HLA-B1507 positive?
ABACAVIR!
Avoid drugs with long half-lives or short half lives in patients with SJS/TEN?
Avoid drugs with long half lives!!!
Most common SJS/TEN complication?
Ocular sequelae
Most common cause of death in SJS/TEN
Infections (pseudomonas or s aureus)
T/F sulfa antibiotics do not cross-react with non-antibiotic sulfonamides like HCTZ and hypoglycemic agents?
TRUE they do not
What is the severe variant of PLEVA called which has skin lesions plus fever, lymphadenopathy, Mucocutaneous, pulmonary, GI involvement?
Febrile ulceronecrotic Mucha-Haberman disease
Does PLC resolve with hypopigmentation or hyperpigmentation notoriously?
HYPOpigmentation
Both PLEVA and PLC have a strict absence of what type of cell?
Eosinophils!!!!!
What type of cell predominates in PLEVA? (That helps distinguish it from other diseases)
CD8 positive lymphocytes
*also remember PLEVA has an absence of eos
Most common FDE:
- overall
- nonpigmented
- children
- penis
- overall: Tetracyclines (although Hocker says sulfa is most common overall not TCN
- nonpigmented:pseudoepedrine
- children: bactrim
- penis: sulfa
What body site does naproxen FDE have a predilection for?
The lips!
Which FDE causing medication has a predilection for the lips?
Naproxen!
What chemical which was previously found in laxatives has now been removed due to common occurrences of fixed drug eruption?
Phenolphthalein
1 body site for fixed drug eruption?
Oral and genital mucosa!
Adult linear IgA-bullous dermatosis a/w what drug?
VANCOMYCIN!
Blue grey pigment in the cartilage
Alkaptonuria
Blue-grey pigmentation on the face, ears/catilage, and on the sclera - name the mutation?
And what are the complications
This is alkaptonuria - homogentisic 1,2,-deoxygenase gene (HGO)
Lots of arthroscopic surgeries, risk of MI due to aortic/mitral valvulitis
Three primary organisms to cause nail
Scydillium
Saprophiatsis
Candida
The ice cube test is positive in which of these cold urticaria Primary cold contact urticaria
Secondary cold contact urticaria
Reflex cold urticaria
Familial cold urticaria
ONLY in primary cold contact urticaria
Aquagenic urticaria is more common in what patient population
Cystic fibrosis patients
What type of drugs are first line for urticarial vasculitis?
NSAIDS
Syndrome of chronic urticaria, fevers, bone pain, arthralgias, increased ESR and an IgM gammopathy
Schnitzler’s syndrome. “SchMitzlers syndrome”
Name the findings of Schnitzlers syndrome
Chronic urticaria Chronic urticaria Fevers Bone pain Elevated ESR IgM gammopathy
*treat with anakinra
What do you treat Schnitzlers syndrome with?
Anakinra
*remember Schnitzlers is chronic urticaria plus bone pain, fevers, IgM gammopathy
What type of monoclonal gammopathy do you get in Schnitzlers syndrome?
IgM! “SchMitzlers syndrome”!!!!
Hypocomplementemic urticarial vasculitis will have what notably on labs?
Low complement levels, anti-C1q antibody
What inflammatory marker is the cause of all angioedema without urticaria (HAE, AAE, and ACE-I induced angioedema)
Excess bradykinin
What deficiency must you rule out when evaluating a case of angioedema without urticaria?
C1 esterase inhibitor deficiency
What is the screening test of choice for hereditary and aquired angioedema?
C4
What is used for regular prophylactic treatment for hereditary angioedema, and what is used during acute attacks?
Danazol or Stanazol for ppx, and C1H during acute attacks
Which type of angioedema without urticaria is characterized by increased significant facial swelling?
Type III! (which is aquired angioedema usually due to lymphoproliferative disorders
What labs should you check if you suspect angioedema without urticaria
C1H, C1q, C4
Erythema marginatum happens in kids who were not treated for what kind of infection?
Group A beta-hemolytic strep (seen in the setting of rheumatic fever)
Treatment of choice for EED
Dapsone
EED is a/w what kind of monoclonal gammopathy
IgA monoclonal gammopathy
Poor man’s test for cryoglobulinemia
RF!
If you see Raynauds of the ears, what is this a clinical clue for?
CRYOGLOBULINEMIA!
What are the two ELISA tests that you use for detecting wegeners/Churg Strauss?
MPO - an ELISA that confirms P-ANCA in Churgg Strauss
PR3 - an ELISA that confirms C-ANCA in Wegeners
What part of the vascular complex is the immune deposition located in cutaneous small vessel vasculitis?
The post capillary venules
What street drug can cause CSVV
Levamisole-laced cocaine
What is a common and okay finding to see on DIF when you biopsy CSVV
80% w/perivascular C3 and IgM
What is a key predictor of nephritis in children with HSP?
Abdominal pain
Urticarial vasculitis is a/w which systemic disease
EED vasculitis is a/w which systemic disease?
Urticarial vasculitis - SLE
EED- HIV
Which disease has renal involvement and which doesnt generally?
Wegeners
Vs
Churg Strauss
Wegeners does!
Not Churg Strauss
Which is granulomatous: Wegeners or Churg Strauss?
Wegeners! Not Churg Strauss!!
Perinuclear staining vs Granular cytoplasmic staining:
Wegeners vs Churg Strauss?
Perinuclear is Churg Strauss (P-ANCA/MPO)
Granular Cytoplasmic is Wegeners (C-ANCA/PR3)
*maybe think bc Wegeners causes granulomas? “Granular cytoplasmic”
If you do not treat Wegeners, within one year what will they die from???
Renal disease!!! 80% 1 year mortality
What clinical sign is pathopneumonic for Wegeners?
Strawberry gums
Most common cause of pulmonary renal syndrome
MPA (microscopic polyangitis)
Omalizumab (Xolair) can actually induce which vasculitis?
Churg Strauss
What drug induced lupus erythematosus with a positive P-ANCA?
Minocycline-induced lupus!
*technically also levamisole as well
Which ANCA vaculidity creates a Th1 response?
C-ANCA (Wegeners) this is why you get granuloma formation in wegeners bc of the Th1 response
Which ANCA vasculidity is completely without granuloma formation?
MPA
Two key clinical features of Churg Strauss
Asthma and Eosinophilia
What is usually the first clinical presentation of Churg Strauss?
Adult onset asthma
Nasal polyps
Allergic rhinitis
*then second stage later on comes eosinophilia and then the vasculitis in the third stage
Name two diseases that PAN (polyarteritis nodosa) is associated with
Hep B
Hairy cell leukemia
*sidenote has also be a/w strep in children, and also a/w minocycline!
What is the most commonly positive antibody in anti-phospholipid syndrome?
And how abt the most specific?
Anti-cardiolipin is most common
Anti-B2-glycoprotein is the most specific
Anti-cardiolipin antibodies
Most common positive in APLS
*other common Ab are lupus anticoagulant, anti-b2-glycoprotein
What drug is known for causing cause livedo reticularis?
Amantidine
Most common complication from parotidectomy
Auriculotemporal (Frey syndrome)
Mucha-Haberman disease
“Febrile ulceronecrotic Mucha-Haberman disease” is a really severe form of PLEVA that occurs with high fever, lymphadenopathy, arthritis, mucosa stuff, GI
*high TNF alpha levels
What is the severe form of PLEVA called?
Febrile ulceronecrotic Mucha-Haberman disease
Which type of interface dermatitis has no eosinophils
PLEVA and PLC
What is the best predictor for speed of disease resolution
Diffuse distribution
Most common auto immune disease a/w lichen sclerosis
Autoimmune thyroid
Most people with lichen sclerosis have circulating antibodies to what protein?
ECM-1.
*ECM-1 also seen in lipoid proteinosis
50% of all vulvar SCCs occur in the setting of what disease?
LS&A!
What is Schnitzlers syndrome?
Urticarial vasculitis plus monoclonal IgM plus systemic features like fever/bone pain/ect
Name of the syndrome: urticarial vasculitis plus IgM antibody plus fever/bone pain
Schnitzlers syndrome (SchMitzlers syndrome)
What type of Monoclonal Ab seen in Schnitzlers syndrome?
Monoclonal IgM
Which type of lupus carries a risk of SCC?
Hypertrophic Lupus (basically hypertrophic LP on the upper half of the body)
What three reasons could you have for getting carotenemia?
- Eating too many carrots
- Hypothyroid
- DM
*bc cant convert the vitamin
Name a common practice that is a risk factor for DLE
Smoking!
What percent of SLE patients will have DLE?
And what percent of DLE patient will progress to SLE?
40% of SLE patients will have DLE lesions
But only 5-20% of DLE patients will progress to SLE
- fyi 5% risk factor if DLE only on your head
- 20% risk factor if DLE is diffuse
What percent of DLE patients have mucosal involvement>?
25%
ANA is positive in what percent of DLE patients?
Only 5-25%
Which type of chronic lupus has an increased risk of SCC?
Hypertrophic LE
What is the difference in clinical distribution of hypertrophic LP vs hypertrophic LE? (lupus erythematosus)
Hypertrophic LE favors the UPPER HALF of the body while hypertrophic LP favors the LOWER HALF of the body
What is reticular erythematous mucinosis
Histologically similar to Jessners, but is morphological distinctive : erythematous macules and papules on the mid back/chest in a reticular pattern)
Treatment for tumid lupus
Tumid lupus is usually a solitary indurated plaque on the face. Treatment includes antimalarials
Most specific antibody for Sjögren’s syndrome
Alpha-fodrin
Which is more likely to progress to SLE: childhood DLE or adult DLE?
Childhood DLE and widespread DLE have a greater chance of progressing to SLE (20%)
How do you tell the difference between Jessners and tumid lupus?
Jessners is a pseudolymphoma and so it has a CD8 infiltrate and no mucin
Tumid lupus has a ton of mucin and no CD8
What would you choose to treat lupus if topical treatments aren’t working?
First - hydroxychloroquine
Second, can add quinacrine
What is the most common systemic finding in SCLE?
Arthralgias (70%)
Most common antibody found in SCLE
Anti-Ro/SSA
Which kind of SCLE is it rare to have systemic SLE?
Drug induced SCLE has no systemic involvement usually, just skin
Name the most common drug that causes drug induced SCLE
HCTZ
*other common ones are griseofulvin, terbinafine, calcium channel blockers, eat receipt
Which antibody most commonly found in 99% of neonatal lupus?
Anti-Ro/SSA
What percent of women undiagnosed SLE women who have Ro Ab will have a child with neonatal lupus?
- How abt women wtih known SLE and Ro ab
- How abt women w ho have had a prior child with neonatal lupus?
- 1% chance if undiagnosed
- 15% chance if have lupus
- 25% chance of having a second child with neonatal lupus if you’ve already had one
Alternative treatment for LPP
Pioglitazone
Drug association with multiple osteoma cutis on a middle aged lady’s face
Tetracyclines (just think about acne and acne treatments)
Habers syndrome
Genoderm with Rosacea and lots of SKs on the arms (some people believe it just may be Dowling Degos disease)
Dowling Degos disease a/w what genoderm?
EBS with mottled pigmentation (Dowling degos is reticulated hyperpigmentation adult onset, in the axilla and groin)
AD mutation in Keratin 5
What layer of the skin is keratin 5 found in, and what two diseases (one is congenital and one is adult onset) are a/w this mutation?
K 5/14 = BASAL layer!
EBS with mottled pigmentation &
Dowling-Degos disease!
K5 is a/w reticulated hyperpigmentation
A patient presents with dystrophic nails, PPK, natal teeth, and a steatocystoma. What disorder and what mutation?
Pachyonychia Congenita Type II (Keratin 6/17)= PPK, nail dystrophy, steatocystomas, natal teeth
*Pach congenita Type I is Keratin 6a/16 = PPK, nail dystrophy, and benign leukoplakia
Polymorphisms in which TLR are protective against acne fulminans?
TLR-4
Name the HLA classes a/w guttate psoriasis
HLA Cw6, B13/17
HLA Cw6 - early onset, guttate
HLA B27 - pustular psoriasis, psoriatic arthritis
HLA B13/17 - erythroderma and guttate psoriasis
HLA class a/w early onset psoriasis
HLA Cw6
HLA Cw6 - early onset, guttate
HLA B27 - pustular psoriasis, psoriatic arthritis
HLA B13/17 - erythroderma and guttate psoriasis
HLA class a/w erythrodermic psoriasis
HLA Cw6, B13/17
HLA Cw6 - early onset, guttate
HLA B27 - pustular psoriasis, psoriatic arthritis
HLA B13/17 - erythroderma and guttate psoriasis
Name the two types of psoriasis neutrophil collections in the epidermis
Munro microabcesses - collections of neuts in the stratum corneum
Spongiform pustules of Kogoj - neuts in spinosum
Munro microabcesses
Collections of neuts in corneum. Found in PSORIASIS
*spong pustules of Kogoj - neuts in the spinous layer!
Treatment of choice for pustular psoriasis
Cyclosporine
What two questions do you ask before starting cyclosporine?
HTN?
Kidney probs?
Risk factors for pustular psoriasis?
Stopping a systemic corticosteroid
Hypocalcemia
Pregnancy (impetigo herpetiformis)
Person presents with tense sterile pustules on their hands and feet - what other physical exam symptom should you ask abt?
Any sternoclavicular tenderness? (Can be associated with SAPHO syndrome)
Side effects of cyclosporine
HTN, kidney probs (Duh) GINGIVAL HYPERPLASIA HYPERKalemia HYPOmag INCREASED uric acid (why you ask abt gout) Hypertrichosis
Name some things that cyclosporine is used to treat
Pustular psoriasis
PG
Severe atopic derm
Autoimmune bullous disorders
A person with severe pustular psoriasis is being treated with a systemic agent and his gums begin to become larger - what med is it?
Cyclosporine ( causes GINGIVAL HYPERPLASIA)
If a person’s creatinine rises above what percent of baseline, you should reduce the dose of cyclosporine
30%!
How long is it safe to give cyclosporine for?
1 year and no more
What is the mechanism of action of cyclosporine?
Inhibits T cells by binding to cyclophillin (blocks activation of calcineurin activation which does NFAT, so it decreases IL-2
Child sarcoid
Blau Syndrome
Blau syndrome
Child sarcoid
Acute sarcoid
Lofgrens Syndrome (EN, hilar adenopathy, acute iritis, migrating polyarthritis)
Sarcoid with sicca symptoms
Miculitz syndrome
Panniculitis due to sarcoid
Darier-Roussey Syndrome
Darier-Roussey syndrome
Sarcoid panniculitis
“Uveoparotid fever”
Heerfordts syndrome (Parotid glad + uveitis +facial nerve palsy)
What type of uveitis is characteristic of sarcoid?
Anterior uveitis
Hilar adenopathy on X-ray
E Nodosum on shins
Migratory polyarthritis of ankles
Lofgrens syndrome (Acute sarcoid)
Large painful subq nodules on the arms and legs, this is a variant of sarcoid
Darier Roussey - sarcoid panniculitis
Uveitis
Parotiditis
Facial palsy
Heerfordts syndrome - variant of sarcoid
Enlargement of lacrimal gland
Enlargement of Parotid glad
Sicca symptoms
Miculitz Syndrome - variant of sarcoid (and can be seen in Sjogrens)
Inflamed eye
Ipsilateral lymphadenopathy
Fever
Parinaud ocular glandular syndrome (variant of sarcoid)
*also seen in tularemia and catscratch disease
What diseases is Parinaud ocular glandular syndrome seen in?
SARCOID variant
Tularemia
Cat scratch disease
Old school sarcoid test:
Kviem -Siltzback test
Kveim-Siltzback test
Old school sarcoid test
What type of collagen is overexpressed in keloids
Collagen III
Gene defect in Muckle Wells
CIAS1 (“fuckle Wells” with CIAlis)
A patient gets chronic cold urticaria, deafness, renal amyloidosis, attacks of fever, abdominal pain, myalgias. What is the diagnosis and gene defect
Muckle Wells
Gene defect CIAS, which encodes cryopyrin
Gene defect for Familial Mediterranean Fever
MEFR which encodes pyrin, also known as marenostrin
“A family of mediterranean pyros goes to Reno”
Reccurent episodes of fever, erysipelas like erythema (legs, polyserositis. What is the diagnosis?
And what do you treat with?
Familial Mediterranean Fever syndrome
Treat with colchicine
Remember you treat muckle wells with anakinra
Treatment for Muckle Wells
Anakinra
Patient gets high fevers, erythematous annular or serpiginous patches on the extremities, abdominal pain, arthralgias What is the diagnosis and what do you treat with?
TRAPS (TNF alpha associated periodic syndrome). TNFR-1 mutation
Treat with TNF alpha inhibitors
Another name for Muckle Wells
Familial Cold Urticaria
Another name for Familial Cold Urticaria Syndrome
Muckle Wells
AA protein is seen in which type of amyloidosis?
Secondary systemic amyloid (usually found in chronic inflammatory diseases like RA, TB, or the periodic fever syndromes like muckle wells, traps, ect
Type of amyloid seen in secondary systemic amyloid
AA
AA (amyloid associated protein) loses its Congo red affinity when exposed to what chemical?
Potassium permangonate
What do you treat all of the chronic fever syndromes with except familial meditteranean fever?
Anakinra!
*and you treat FMF with colchicine
Which is the only periodic fever syndrome that you dont treat with anakinra and what do you treat it with instead?
Familial Mediterranean Fever syndrome! Treat with colchicine
What type of systemic symptoms do you look out for with someone who has scleredema
Dysphasia
Cardiac abnormalities
Serositis
What are the three types of Scleredema
Type I: Strep related
Type II: Monoclonal gammopathy related
Type III: DM related
Treatment for Type II, III scleredema?
Phototherapy
Cyclophosphamide
Cyclosporine
Steroids
What is the localized form of scleromyxedema called?
Papular mucinosis (lichen myxedematosus)
Diagnosis: erythematous macules and papules in reticulated pattern over the midline chest and back, induced by UV light
Reticular erythematous mucinosis
*this overlaps with tumid lupus, due to overactive IL-1
DIF is negative!
Several members of a family have been diagnosed with lichen amyloid. What gene mutation should they all be tested for?
RET oncogene. They could all have Sipple Syndrome! (MEN2A)
- medullary thyroid cancer
- pheochromocytoma
- hyperparathyroid
*could consider a prophylactic thyroidectomy
Chronic seb derm, erythroderma, frequent infections. What disease is this and what is its cause?
Leiners disease! Caused by a decrease in C5
Fogo selvagem caused by what organism?
Black fly (simulium spp.)
*black fly also causes onchocerciasis
The black fly causes what blistering disorder?
Fogo selvagem (pemphigus foliaceous)
*also causes oncocerciasis
Vector for onchocerciasis
Black fly (simulium spp.)
*also vector for pemphigus foliaceous -fogo selvagem
Mazotti Reaction
Severe urticarial reaction after getting diethylcarbamzine when being treated for oncocerciasis (vector is the black fly, simulium spp. Which also causes pemphigus folicacous fogo selvagem)
Subcutaneous nodules containing worms,
Depigmentation on the lower legs
Vision loss
Oncocerciasis (River blindness)
*caused by black fly (simulium spp. Which also causes fogo selvagem)
What do you watch out for when treating river blindness
Mazotti reaction. Which is severe urticaria when given diethylcarbizine. River blindness is oncocerciasis, which presents as papules filled wtih worms and hypopigmented lesions on legs. Vector is the black fly (simulium spp) which is the same vector that causes fogo selvagem
What two blistering disorders show IIF binding to the dermal side of the BMZ with salt split skin?
EBA (Collagen VII) (anhoring fibrils in sublamina densa)
And
Anti-epilligrin (laminin 5) Cicatricial pemphigoid (binds to anchoring filaments on the bottom of lamina lucida
What is the name of the syndrome:
Angiosarcoma in a radiated lymphedematous area like after mastectomy
Stewart-Treves syndrome
Stewart Treves syndrome
Angiosarcoma occurring in chronic lymphedema (usually following breast cancer with lymph node dissection)
Clinical scenario: a 56 year old lady who is s/p double mastectomy w axillary lymph node dissection and radiation develops ill-defined bruise-like macule that becomes a plaque
Stewart Treves syndrome: angiosarc in chronic lymphedema
Stain for angiosarc
C-myc positive ***BOARDS
Scleromyxedema a/w with which gammopathy?
IgG y (lambda)
NSF a/w with exposure to what
Gadolinium contrast
A patient is undergoing dialysis and gets a large sclerotic indurated plaque on his body. What is this most likely?
Nephrogenic systemic fibrosis (resembles scleroderma clinically but scleromyxedema pathologically)
Donovan bodies
Parasitized histiocytes in Granuloma Inguinale
What are the parasitized histiocytes in Granuloma inguinale called?
Donovan bodies
DDx for parasitized histiocytes
Leichmaniasis Histoplasmosis Granuloma inguinale (Donovan bodies) Rhinoscleroma (Mikulicz cells, Russell bodies) Toxoplasmosis
New first line treatment for Hailey Hailey
Naltrexone! (*HOT boards fodder right now)
Calciphylaxis a/w with what lab values
Increased serum phosphate
Hypercoagulable state
HYPERparathyroidism
30% of patients with granulomatous slack skin will go on to develop what kind of malignancy?
Hodgkins
Adult T cell leukemia/lymphoma a/w what virus?
HTLV-1 (endemic in africa, Japan, carribean)
*a/w CD25!
Adult T cell leukemia/lymphoma a/w what lab value?
Hypercalcemia
*remember this is the lymphoma that is a/w HTLV-1 and the “floret/clover cells”, and is indistinguishable from MF except for these cells
CD25+
Adult T cell lymphoma/leukemia (a/w HTLV-1)
Most common cause of death in Churgg Strauss
Myocarditis and coronary arthritis! *weird. This is per Hocker
Erythroderma is a/w with what cardiac finding?
HIGH OUTPUT CARDIAC FAILURE*weird
What lab finding in 90% of patients with Neuroblastoma?
Increased urinary catecholamines (bc remember they get raccoon eyes and the skin Mets welp up when you stroke them - due to release of the catecholamines)
What lab should you test for a diagnosis of neuroblastoma?
Urinary catecholamines are increased
2nd most common solid malignancy of childhood
Neuroblastoma
Older children have a better or worse prognosis with Neuroblastoma
Older children have a WORSE prognosis
What stain will be negative in Merkel cell?
TTF-1
Also negative: S100, CK7, CEA
What cellular expression marker gives a worse prognosis in Merkel cell?
P63
Skin findings in Reed syndrome
Multiple Leiomyomas
Cancer a/w Reed syndrome
RCC
Enzyme mutated in Reed syndrome
Fumarate hydra tase
What is the difference in origin of a Leiomyoma vs a Angioleiomyoma
Leiomyoma is derived from smooth muscle of the arrector pili vs Angioleiomyoma derived from the smooth muscle of the subcutaneous blood vessels
What is the most potent anaphylatoxin?
C5a
