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
