Genoderms Syndrome Flashcards
lentigenes, ECG defects, pulmonary stenosis, genetalia defects, ocular hypertelorism, deafness, and retardation of growth
LEOPARD Syndrome (Moynahan syndrome)
photodistributed erythema
high pitched voice
decreased immunoglobulins (IgM/IgA) causing chronic respiratory infections
increased risk for GI adenocarcinoma, leukemia
Bloom Syndrome (congenital telangiectatic erythema)
plucked chicken skin angioid streaks retinal hemorrhage gastric artery hemorrhage* MVP fragmented calcified elastin of skin/eyes/arteries
PXE (Pseudoxanthoma Elasticum)
gastric artery hemorrhage
PXE
high pitched voice + photodistributed erythema
Bloom syndrome
Bloom syndrome has increased risk for which cancer?
GI andenocarcinoma (also leukemia)
Moynahan syndrome is another name for what?
LEOPARD SYNDROME
Name the findings in LEOPARD syndrome
Lentigines ECG abnormalities Ocular telorism Pulmonary stenosis Abnormal Genetalia Retardation of growth Deafness
Angioid streaks plus retinal hemorrage
PXE
Multiple KAs
Ferguson Smith,
*also found in Muire Torre Syndrome
cutaneous myxomas areola myxomas atrial myxomas Cushings syndrome from primary pigmented nodular adrenocortical disease psammomatous melanotic schwannomas
Carney Syndrome
LAMB or NAME syndrome
Carney Syndrome
name the findings in LAMB/NAME/Carney complex
Lentigenes
Atrial Myxoma
Mucocutaneous myxomas
Blue nevi
Nevi
Atrial myxomas
Myxoid tumors
Ephelids
psammomatous melanotic schwannomas
Carney Complex
Atrial myxomas
Carney complex
psammomatous melanotic schwannomas
Carney Complex
Atrial myxomas
Carney complex
multiple fractures
thin skin
blue sclera
MVP**
Osteogenesis Imperfecta Type 1
Type of OI with MVP
OI 1
beaded ribs
Osteogenesis Imperfecta Type II
Crumpled humeri
Osteogenesis Imperfecta Type II
“reticulate grey brown hyperpigmentaion of the neck and face”
Dyskeratosis Congenita
- poikiloderma of the face, trunk, thighs
- nail dystrophy (pterygium)
- premalignant leukoplakia of the buccal mucosa
- frictional bulla
- PPK
- bone marrow failure
- increased risk of CA
Major cause of mortality in Dyskeratosis Congenita
Bone marrow failure! 90%!!!! (anemia, thrombocytopenia)
Premalignant leukoplakia
Dyskeratosis Congenita
Non premalignant oral leukoplakia
Pachonychia Congenita (vs Dyskeratosis Congenita which has PREMALIGNANT oral leukoplakia)
mental retardation poikiloderma nail dystrophy weird tongue lesion thrombocytopenia dental carries with loss of teeth PPK
Dyskeratosis Congenita
- pterygium (nail dystrophy)
- thrombocytopenia
- poikiloderma
- oral premalignant leukoplakia
Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita
Genoderm characterized by short telomeres
Dyskeratosis Congenita
clumped tonofiliments
EM finding seen in Dowling Maera Type EBS
grouped or herpetiform blisters at birth hoarseness PPK mucosal membrane/laryngeal involvement nail dystrophy early death
Dowling-Maera EBS
Other name for EB Herpetiformis
Dowling-Maera
What finding to do you see on EM in Dowling Maera EBS?
clumped tonofilaments
What is the only EBS that is not AD transmitted?
EB with muscular dystrophy (AR) defect in plectin
Which two types of EBS heal WITHOUT scarring?
Localized EBS (Weber-Cockayne) Generalized EBS (Koebner)
Where is the split in EBS?
BASAL LAYER
Where is the split in Junctional EB?
Lamina Lucida (BMZ)
Where is the split in Junctional EB?
Sublamina Densa (Dermal)
Type of EB with “exuberant granulation tissue”
Herlitz (EB Lethalis)
severe widespread bulla from birth exuberant granulation tissue enamel defects absent nails early death
Herlitz Junctional EB (EB Lethalis)
type of EB which heals with “atrophic scarring”
and
“scarring alopecia”
Non-Herliz Junctional EB (Generalized Atrophic Benign EB)
widespread bulla at birth heals with atrophic scarring scarring alopecia nail dystrophy improves with time
Non-Herlitz Junctional EB (Generalized Atrophic Benign EB)
What other physical exam finding does EB with pyloric atresia have?
Hydronephrosis
An EB patient gets hydronephrosis. What type EB does he have?
Junctional EB with pyloric atresia
An EB pt gets hydronephrosis - what is the gene defect?
alpha-6-beta-4 integrin. This is Junctional EB with pyloric atresia
Mode of inheritance for all of the Junctional EBs?
AR
Hallopeau-Siemens
Recessive Dystrophic EB
Autosomal Recessive
Hallopeau-Siemens inheritance pattern and gene defect:
AR and defect in Collagen Type VII
Dystrophic EB split
Dermal - sublamina densa (Collgen Type VII)
Name the two AR Dystrophic EB types
Hallopeau-Siemens
Non-Hallopeau Siemens
Which dystrophic EB is due to a premature termination codon?
Hallopeau-Siemens
Which two types of EB are due to premature stop codons?
Hallopeau-Siemens &
Herlitz (EB Lethalis)
severe widespread bulla at birth heals with atrophic scarring on hands and feet = "mitten deformity" milia nail dystrophy mucosal strictures oral, esophageal, cutaneous SCCs
Hallopeau-Siemens Dystrophic EB
mitten deformity
Hallopeau-Siemens Dystrophic EB
what type of cancers are kids with Hallopeau-Siemens disorder at risk for?
SCCs - Oral, esophageal, cutaneous SCCs
where are the skin changes in non-Hallopeau Siemens located?
Less severe form of HS Dystrophic EB with skin changes localized to acral bony prominences
Cockayne-Touraine
Dystrophic EB with bullae on extremities, heal with milea, atrophic scars/keloids, nail dystrophy
Pasini Varient
Dystrophic EB - like Cockayne-Touraine but with albo-papuloid lesions (white perifollicular papules which slowly enlarge)
gene defect in Pasini Variant of EB?
AD
Type VII Collagen
“albo-papuloid lesions”
Pasini Variant of EB Dystrophic
white perifollicular papules on the hands, sacrum, which slowly enlarge. been there since young childhood
albopapuloid lesions in Pasini variant dystrophic EB (also called dominant dystrophic EB)
Ankyloblepharon
erosive scalp dermatitis
cleft lip
Hay Wells Syndrome (AEC)
one of the ectodermal dysplasias
mutation in p63
dermatofibrosis lenticularis disseminata
elastomas/connective tissue nevi found in Buscke-Ollendorf Syndrome
osteopokilosis
ectopic calcifications in the bone; found in Buscke-Ollendorf Syndrome
are the osteopoikilosis in Buscke-Ollendorf Syndrome prone to fracture?
NO they are not
multiple yellow papules on the trunk, buttocks, arms that look like elastomas
weird ectopic bone tissue that is not prone to fracture
Buscke-Ollendorf Syndrome
Xeroderma Pigmentosum has early onset of which skin malignancy?
ALL OF THEM! EVENLY!
caused by a defect in nucleotide excision repair pathway
XP
solar lentigo by age 2
XP
lentigos plus a bunch of ocular abnormalities
(photophobia, keratitis, corneal opacification, vascularization)
progressive deafness
XP
what type of deafness is associated with XP?
PROGRESSIVE deafness (not born that way)
What kind of neurologic abnormalities do pts with XP have?
trick question: NO neuorologic abnormalities
the type of XP that does have severe neurologic abnormalities
DeSanctis-Cacchione syndrome
DeSanctis-Cacchione syndrome
The type of XP that does have severe neurologic abnormalities, plus deafness and ataxia
Name the findings in Gorlin syndrome
multiple BCCs (duh)
odontogenic cysts
calcification of the falx cerebri
dental enamel pits
Sprengel deformity
Basal Cell Nevus Syndrome (Gorlin)
sprengle deformity is congenital elevation of the scapula
atrophoderma vermiculata
Rombo syndrome
atrophoderma vermiculata BCC loss of lateral eyebrows peripheral venous dilitation blue lips acral erythema
Rombo syndrome
Multiple small eruptive KAs that appear like milia then regress
Gryzbowski KA syndrome
Sign of Leser Trelat
acute eruption of SKs signaling internal malignancy (most common GI adenocarcinoma, breast, or leukemia)
How much increase in SCC risk is there for immunosuppressed/transplant pts?
65%
65%SCC
10%BCC
4.5Melanoma
This lesion from birth may represent a mosaic form of Apert syndrome
Nevus Comedomicus
Nevus Comedomicus associated with what syndrome?
Apert syndrome
hypotrichosis diffuse ppk nail dystrophy -milky white NORMAL teeth and sweating MR, ocular abnormalities
Claustons’ Hidrotic Ectodermal Dysplasia
-defect in connexin 30 GJB6 (gap junction B6)
kid with tons of lentigos in the month
intususseption
Peutz Jeghers syndrome
STK11
mucocutaneous lentigenes, intestinal polyposis, intussusception, various malignancies
multiple lentigenies
penis lentigos
lipomas
hemangiomas
Bannayan-Riley-Ruvalcaba Syndrome
PTEN
Brooke-Spiegler
Trichoeps + cylindromas
Brooke-Fordyce
AD Multiple Trichoepitheliomas
Rombo syndrome
Trichoeps BCC milia atrophoderma vasodilation with cyanosis
Birt-Hogg-Dube syndrome systemic symptoms
spontaneous pnuemothorax
renal oncocytomas
chromophone RCC
person with multiple fibrofolliculomas, trichodiscs, skin tags. What else should you order for them?
Chest XRAY (spontaneous pneumothorax) Abdominal CT( check for renal oncocytomas, chromophobe RCC)
A person has kidney cancer, multiple skin tags and little skin nodules, and is now short of breath. what could it be?
Birt Hogg Dube syndrome
multiple trichodisc, fibrofolliculomas, acrochordons, chromophobe RCC, renal oncocytoma, and SPONTANEOUS PNEUMOTHORAX!)
Disorder with multiple lentigenes, lipomas, and hemangiomas
Bannayan-Riley-Ruvalcaba Syndrome (PTEN)
Mucocutaneous lentigenes, genital lentigenes, longitudinal melanonychia
Laugier-Hunziker Syndrome
Which PPV have congenital dermal melanocytosis?
Types II and IV
Type of EB associated with deafness
Dowling-Meara = EBS Herpetiformis
EB associated with deafness
Dowling Meara (EBS Herpetiformis)
EB associated with clumped tonofilaments
EBS Herpetiformis (Dowling-Meara)
EBS with reticulated hyperpigmentation over the trunk
EBS with Mottled pigmentation (AR with mutation in K5)
EB with exuberant granulation tissue
JEB Herlitz type (ED lethalis) *one of the ones with premature termination codon
Kind of EB with defect in Type VII Collagen
Dystrophic EBs (defect in the Sublamina Densa)
Bloch-Sulzbergers syndrome
Incontinentia Pigmenti
genoderm with sporadic inheritance pattern
ovarian cystadenomas
Proteus syndrome
Inheritance pattern for hypermelanosis of Ito
sporadic
inheritance pattern for sturge weber
sporadic
inheritance pattern for Cowdens
AD
Name some genoderms with sporadic inheritance patterns?
Proteus
McCune Albright
Hypomelanosis of Ito
Sturge Weber
which MEN syndrome is caused by a mutation in the tumor suppressor menin?
MEN-1
Wermer syndrome
MEN-1
Another name for MEN-1?
Wermer syndrome
Angiofibromas, collagenomas, lipomas, CALMs
pituitary parathyroid pancreatic tumors
MEN-1
MEN-1
Pituitary
Pancreatic
Parathyroid
Angiofibromas, collagenomas, lipomas, CALMS
Sipple syndrome
MEN-2
MEN syndrome due to a RET mutation (tyrosine kinase receptor)
MEN2a, 2b
MEN2a
Pheochromocytoma
Parathyroid
Medullary Thyroid
Lichen or macular amyloidosis, hemangiomas, genital lentigenes, hamartomas
MEN2b
Pheochromocytoma
Medullary thyroid
Mucosal neuromas, thickened lips, marfanoid habitus, megacolon
Mutation in p63
Hay Wells syndrome and other ectodermal dysplasias which cause ankeloblepharon
Gene defect in EHK
Keratin 1,10
Mild erythroderma in infancy with large translucent scales
Evolves into brown dirty scales
Spares palms/solesface
Mother with failure to progress in labor
X-linked ichtyosis
Which ichthyosis occurs after failure to progress in labor/ low estrogen in the urine?
X/linked ichthyosis
What cancer are kids with X linked ichthyosis prone to get?
Testicular (Crypchorchdism)
Test for X-linked ichthyosis?
Serum lipoprotein electrophoresis (detects accumulation of steroid sulfatase)
What is the difference in the distribution of the involvement of X-linked ichtyosis and lamellar ichtyosis?
X-linked is extensor involved and spares the flexures, vs all the other ichtyosis involve the flextures
Which is the o KU ichtyosis that spares the flexures?
X-linked ichtyosis
“Corrugated cardboard”
Epidermolytic Hyperkeratosis (EHK)
What part of the body is spared in X-Linked ichthyosis?
Palms, soles, face
Which are the only two ichthyosis that do not have PPK?
X-linked Ichthyosis and Ichthyosis Bullosa of Siemens
Which Ichthyosis presents with mild erythroderma and blistering
Ichthyosis bullosa of Siemens
Comma shaped corneal opacifications
X-linked Ichthyosis
Periodical “glistening” white dots in occular fundus
Sjogren-Larson Syndrome. “Snowy dots” , “jog” with a spastic gait
Ichytosis with spastic gait
Sjogren Larson
Unilateral ichthyotic erythroderma, ipsilateral alopecia, limb defects
CHILD syndrome
Stipples epiphyses
CHILD syndrome. Also Condradi-Hunermann-Happle syndrome
New AR form of EB
Dystonan. (BPAG)
Three syndromes associated with milea
Oro-facial-digital syndrome, Rombo, Basex
Goblins, brooke-Speigler
Genoderm resulting from defect in:
Enzyme 3b-hydroxysteroid-dehydrogenase
CHILD syndrome
Which genoderm has stippled epiphysis in early infancy but resolve during childhood
CHILD
Besides CHILD syndrome, what other genoderm has stippled epiphysis
Condrodysplasia Punctata
Ipsilateral alopecia, erythroderma, organ aplasia, skeletal defects, stippled epiphysis
CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)
Symmetric erythematous hyperkeratosis plaques on knees, elbows, and face at birth PPK Congenital sensorineural deafness Vascularizing keratitis Infections SCC
KID syndrome
What kind of deafness is associated with KID syndrome
Congenital sensorineural deafness.
Mild ichthyosis Cerebellar ataxia Peripheral neuropathy Retinitis pigmentosa Deafness
Refsum Disease
Salt and pepper retinitis pigmentosa
Refsum
Name some findings of Refsum disease
Retinitis pigmentosa (salt and pepper) Deafness Ichthyosis Peripheral neuropathies Ataxia
In addition to Ataxia-Telangiectasia, name another genoderm which causes cerebellar ataxia?
Refsum Disease
Genoderm caused by defect in Peronist all phytanolyl-CoA hydroxylase
Refsum
What substance is accumulated in Refsum?
Phytanic acid
Treatment for Refsum?
Dietary restriction of phytanic acid
What are the verrucous papules on the back of the hands in Dariers called?
Acrokeratosis verruciformis of Hopf
Acrokeratosis verruciformis of Hopf
Verrucous hyperkeratotic papules on dorsal hands in Dariers disease
Nail findings in Darier
Red and white alternating longitudinal bands
V shaped nicks at distal plate
Subungal hyperkeratosis
Oral findings in Darier
Cobblestoning of the oral and anogenital mucosa
Atrophoderma vermiculata BCC Milia Hypotrichosis Trichoeps Vasodilation with cyanosis
Rombo
"String of pearls" over eyelids Hoarse voice Bean-shaped temporal/hippocampal calcifications Large wooden tongue Waxy yellow papules of the face
Lipoid Proteinosis
*ECM-1 gene
ECM-1 gene
Lipoid Proteinosis (ECM-1 gene also in lichen sclerosis)
“String of pearls” around eyelid
Lipoid proteinosis
Bean-shaped temporal calcification
Lipoid Proteinosis
Hippocampal calcifications with seizures
Lipoid proteinosis
Name the skin findings in Lipoid Proteinosis
Waxy yellow papules of the face
String of pearls on the eyelids
Recurrent Infections
Thrombocytopenia
Eczema
Wiskott-Aldrich-Syndrome
(Immunodeficiency with Thrombocytopenia)
*butler with an askott without enough plates)
What two diseases have retinitis pigmentosa? (Salt and pepper)
Cockayne and Refsum
Immune deficiency
GI adenocarcinoma
Defect in RecQ
Bloom syndrome
What immune deficiency does Bloom have?
IgM, IgA. *like MA mas boy
What type of cancer does Blood syndrome get?
GI adenocarcinoma
Increased risk of Osteosarcoma
Rothmund-Thompson. (Rotheosarcoma)
Hypoplastic thumbs
Rothmund-Thompson
Broad thumbs
Rubinstein-Tayabi
Photodistributed erythema which ends up as poikiloderma Hypoplastic thumbs and radia-ulna Osteosarcoma Premalignant acral keratosis Recql4
Rothmund-Thompson
Inheritance pattern of Dyskeratosis Congenita
XLR
Severe and frequent sinopulminary infections
Erythematous cheeks
Ataxia
*WHAT cancer to watch out for?
Breast cancer!!!
What cancer is increased in Ataxia Telangiectasia?
Breast Cancer
Comma shaped corneal opacities
X-Linked ichthyosis
Periofovial glistening dots
Sjogren-Larson
Ichthyosis with spastic ditetrplegia
Sjogren Larson
Gene defect in Conrad-Hunermann-Happle Syndrome
EBP gene (enamel binding protein) *Conrad has pearly white teeth (enamel)
Ichthyosis replaced with ice-pick scars, follicular atrophoderma Stippled epiphysis Cataracts Deafness Scarring alopecia Frontal bossing flat nasal bridge
Conrad-Hunermann-Happle Syndrome (XLD Chondrodysplasia)
What is the gene mutation in School-Shultz-Passarge?
WNT-1
*went shopping
Unna Thost PPK
Mutation in K1 (unna*)
Unna thost is non-Epidermolytic PPK
-PPK with erythematous border,no transgradiens, pitted keratolysis, secondary tinea
Vorner Syndrome
Epidermolytic PPK
Mutation in K1 or K9
*similar to Unna Thost but has EHK on histology
Mal de Maleda
SLURP
*Transgredients - involves hands feet, elbows, knees
Maloder and secondary infections
Perioral erythema
Gene defect in both Lamellar Ichthyosis and CIE (Congenital Ichthyosiform Erythroderma)
TGM-1
And then in Lamellar there is also ABCCA, and in CIE there is also ELOX
Cowdens + brain tumor
Lhermitte-Duclos
What is sipple syndrome?
MEN2a
What cutaneous finding in sipple syndrome
Amyloidosis
What is Wermer syndrome
MEN1a
What is the side effect from Selsun Blue shampoo called?
Xanthotrichia (yellow hair)
Two syndromes with follicular atrophoderma:
Bazex Syndrome
Conradi-Hunermann-Happle Syndrome
*Rombo has atrophoderma vermiculatum which is the same thing just limited to ice-pick scars on the cheeks)
Multiple BCCs
Hypotrichosis
Hypohidrosis
Follicular atrophoderma (dorsal hands and feet)
Bazex Syndrome
*XLD
Inheritance pattern of Conradi-Hunermann-Happle
XLD
CHIRPE
Gardner syndrome (congenital hypertrophy of the retinal pigment epithelium)
What type of cancer (besides GI) are patients with Gardner syndrome
Papillary thyroid cancer
Hepatoblastoma
Adrenal adenoma
Supranumerary teeth
Gardners
Two syndromes with defect in Recql2
Bloom syndrome
Werner (adult progeria)
What do patients with Progeria die from?
Cardiovascular complications
“Nuclear” blebbing
Progeria
Abnormal protein lamin A causes which genoderm?
Progeria
Another name for childhood onset Progeria?
Hutchinson-Gilford Syndrome
Hutchison Gilford Syndrome
Progeria
Another name for adult progeria
Werner Syndrome
Retained primary teeth
Hyper IgE (Jobs Syndrome)
Mutation in JOBs syndrome
AD form - STAT3 mutation
AR form - TYK2
Cold abscesses Papulopustular eczema Coarse facies Retained primary teeth Brittle bones
Hyper IgE syndrome (Jobs)
Gene defect in Chronic Granulomatous Disease
CYBB (cytochrome B subunit) recurrent staph infections
CYBB gene in Chronic Granulomatous disease encodes what protein
NADPH (inhibits the respiratory burst so cant defend from staph infections)
What is the inheritance pattern for chronic granulomatous disease
XLR
Thrombocytopenia
Eczema
Recurrent bacterial infections
Wiskott-Aldrich Syndrome
What type of malignancy does Wiskott-Aldrich Syndrome get?
NHL in 20% of people
What antibodies are low in Wiskott Aldrich?
Low IgM
Dystopia canthorum
Wardenburg (especially type I)
Dystopia canthorum
Synophrys
Broad nasal root
Heterochromia iridis
Waardenburg (Type I) - also obvious see a white forelock
Waardenburg type one gene defect
PAX3
*PAX MIT(tens) PAX SOx
Which two types of Waardenburg have deafness?
Type II and IV (MITF, and SOX, respectively)
*stuff socks/mittens in your ears
Which type of Waardenburg associated with Hirschsprung disease
Type IV (SOX mutation)
Waardenburg with upper limb abnormalities
Type III
Aplasia cutis associated with what genoderm
Dominant Dystrophic EB (Bart Syndrome)
Dystopia canthorum
Wardenburg (especially type I)
Dystopia canthorum
Synophrys
Broad nasal root
Heterochromia iridis
Waardenburg (Type I) - also obvious see a white forelock
Waardenburg type one gene defect
PAX3
*PAX MIT(tens) PAX SOx
Which two types of Waardenburg have deafness?
Type II and IV (MITF, and SOX, respectively)
*stuff socks/mittens in your ears
Which type of Waardenburg associated with Hirschsprung disease
Type IV (SOX mutation)
Waardenburg with upper limb abnormalities
Type III
Gene mutation in Pachyonychia type I
K6a/16
Gene mutation in Pachyonychia Type II
K6b/17
Jadassohn-Lewandowsky
Pachyonichia Type I (K6a/K16)
Jackson-Lawler
Pachyonychia Type II
Dystrophic nails, palmoplantar keratoderma, oral leukokeratosis (benign)
Pachyonychia Congenita Type I (Jadassohn-Lewandowsky)
Name the findings of Pachyonychia Congenita Type I
Jadassohn-Lewandowsky (K6a/K16)
PPK
Nail dystrophy
Oral leukokeratosis
Dystrophic Nails PPK Steatocystoma Epidermal cysts Natal Teeth
Pachyonychia Congenita Type II (Jackson-Lawler)
Name the findings of Pachyonychia Congenita Type II
Jackson-Lawler (Type II) PPK Nails Steatocystoma multiplex Natal teeth Epidermal cysts
Natal teeth
Pachyonychia Congenita Type II
Steatocystomas in a genoderm
Pachyonychia Congenita Type II
Leiners disease
Chronic seb derm and infections that progress into erythroderma
-defect in C5
Chronic seb derm and infections that progress into erythroderma
Defect in C5
Leiners disease
Menkes disease is caused by deficiency in what cellular product
Defect in a copper transporter
What vascular anomaly is found in Menkes
Tortuous arteries
Sparse hair, Pear-shaped nose and cone-shaped epiphyses
Trichorhinophalangeal Syndrome
Beaded hair with elliptical nodes along the shaft + KP
Monilethrix, due to defect in hHb1, hHb2
Pili trianguli et canaliculi, spun glass hair
Uncombable hair syndrome
Hair finding in Uncombable hair syndrome
Pili trianguli et canaliculi “spun glass hair”
Fissured tongue, facial palsy, granulomatous cheilitis
Melkersson-Rosenthal syndrome
Helical depression of the ear
Linear crease in the ear
Macroglossia
Wilms tumor
Beckwith-Weidman syndrome
Name some of the findings of Beckwith-Weidham syndrome
Linear crease in the ear
Helical depressions
Macroglossia
Wilms tumor
Name the tumor associated with Beckwith-Weidham syndrome
Wilms tumor
12 year old boy with pains in the hands and feet
Whorled corneal opacities
Small red clustered papules on the body
Heart, kidney, GI problems
Fabry disease (defect in alpha-galactadose resulting in the accumulation of glycosphingolipids)
What is usually the first presenting symptom in Fabrys?
Burning pain of the hands and feet
Keratitis
Icthyosis
Deafness
KID syndrome! Defect in GJB2 (encoded connexin 26)
Glomerulonephritis Posterior iliac horns Hypoplastic patella Triangular lunulae Thickened scapula Radial head subluxation
Nail Patella syndrome
Name the findings in Nail Patella syndrome
P-posterior iliac horns A-Absent patella T-thickened scapula E- eye-Lester iris L-lunulae, triangular L - gLomerulonephritis
Granular cell tumor is associated with which Genoderm?
Noonan Syndrome
XLR mutation of SCID
Defect in the y chain of the IL-2 receptor
*the AR form of SCID is due to defect in JAK3 or ADA (adenosine deaminase)
Defect in adenosine deaminase ADA
AR form of SCID
Which genoderm has an increased risk of DFSP?
SCID
Gene defect in congenital contractural arachnodactyly
Fibrillin 2
*can also be seen in Marfans. This condition has *Crumpled ears, long limbs, and arachnodactyly
What type of neuro cancer do you get with Basal Cell Nevus syndrome?
Medullablastoma
What solid organ tumor do patient’s with BCNS get?
Ovarian fibroma
Fibrillin 1
Fibrillin 2
Fibulin 5
Fibrillin 1 is Marfans
Fibrillin 2 is congenital contractural arachnodactyly
Fibulin 5 is Cutis Laxa
Name all of the XLD genoderms
BIG ChOMP
Bazex Incontinentia Pigmenti Goltz CHILD H Oro-facial Digital Syndrome MIDAS syndrome P Chondrodysplasia Punctata
Name the XLR genoderms
CHADS KINKY WIFE CHANDA
Chronic Granulomatous Disease Hunter Anhidrotic Ectodermal Dysplasia Dyskeratosis Congenitas SCID Kinky - Menkes kinky hair Wiscott-Aldrich Ichthyosis, X linked Fabry Ehlers-Danlos Chondrodysplasia Punctata (not Conrad) Hypohidrotic ED with Immunodeficiency Agammaglobulinemia, Briton N: Lesch Nyhan
Name some “RAS-opathies” and what types of complications they have in common
Noonan, LEOPARD, Costello, Cardio-facio-cutaneous syndrome
All all cardiomyopathies, PULMONARY STENOSIS, coarse facies
Gene defect in Cutis Laxa
Fibulin-5 (FBLN5). Is the AR form
AD form is Elastin
XLR form is ATP7a
Complications of Cutis Laxa
Cardiac - right sided heart failure, aortic dilation/rupture
GI-diverticulae
Current name for XLR Cutis Laxa
Occipital Horn Syndrome. Also used to be called Ehlers Danlos Type IX. Now OHS is thought to be a mild variant of Menkes kinky hair syndrome
Ehlers Danlos Type IV is due to a defect is what gene mutation
Type III Collagen
Gilts syndrome bone finding
Osteopathia striata
