"icky" scale

Cancer!

Deposit your answer

you mutant!

Genoderm genius

100

Mutation associated with keratitis / blindness, ichthyosis, deafness 

Connexin 26 

> Can also see PPK 

100

MC mutation in familial melanoma syndrome. Cancers at risk for? 

CDKN2A - p14 and p16 in cell cycle regulation 

> At risk for melanoma, pancreatic, and glioblastoma 

100

Mutation associated with angiokeratomas in the bathing suit distribution 

Fabry's 

Mutation is alpha galactosidase (XLR) 

FYI: May see maltese cross in the urine

100

4 yo with trichorrhexis invaginata and rash with double edged scale 

What is SPINK 5 :) 


Netherton 

Rash: Ichthyiosis linearis circumflexa 

Hair: Trichorrhexis invah=ginata / bamboo hair / ball and socket hairs 

100

Mottled / reticulated hyperpigmentation

Oral leukoplakia 

Nail dystrophy

What is dyskeratosis congenita 


> PNA and sinusitis often occur 

> Risk of SCC and AML 

200

Condition associated with SPINK 5 mutation and ichthyosis linearis circumflexa, trichorrhexis invaginata, atopy, severe food allergies 

Netherton 


200

Basal cells, keratocystic odontogenic tumors (early manifestation), calcification of the falx, palmar pits, cardiac and ovarian fibromas, meduloblastoma 


Diagnosis? Mutation? 

Gorlin 

PTCH1 - tumor suppressor -inhibits SHH 


200

Name the mutation associated with cherry red spot on the fovea, progressive CNS abnormalities, and waxy yellow brown indurated skin in sun exposed areas 

Sphingomyelinase 

Neimann Pick 

200

Baby with linear, whorled vesiculobullous papules and plaques in a blashkoid pattern with linear / blashkoid alopecia (may also see nail and hair abnormalities) 

Mutation? 

NEMO (Nf-KB essential modulator --> inhibits TNF-a apoptosis) 

- look for combo of ectodermal abnormalities + blashkoid 

- stages: vesicle -> hyperkeratosis -> hyperpigment -> hypopigment 

200

Autonomic dysregulation (abnormal sweating, hypertension, indifference to pain) 

Decreased blink reflex (decreased corneal sensation - can lead to scarring) 

Riley-Day / Familial Dysautonomia 


> IKBKAP (AR) mutation - arrested development of unmyelinated sensory and sympathetic neurons 

300

Most common mutation associated with collodion membrane 

What is TGM 2 

300

Cancer associated with fibrofolliculomas and spontaneous PNX 

RCC 

> Birt-Hogg-Dube 

> FLCN mutation 

300

Name the mutation associated with: mousy odor of the kin, hypopigmentation, acral sclerodermoid changes 

Phenylalanine hydroxylase 

Dx: Phenylketonuria 

300

Poikiloderma, alopecia (including eyebrows and eyelashes, thin scalp hair), osteosarcoma 

> Classified as phot dermatologic condition due to increased photodamge. Spares trunk 

> Poikiloderma = atrophy with hyperpigmentation, hypopigmentation, telangectasias 

RECQL4 (Roth-mund-thomp-son) - 4 syllables 

> Also called poikiloderma congenitale 

> May also see early cataracts and hypodontia

> Also inc risk SCC  

> DDx osteosarcoma = LiFraumani but has no derm manifestations 

300

dermatofibrosis lenticularis disseminata + poikiloderma + collagenomas 

Bushke-Ollendorf 

> LEMD3 (MAN1) -- antagonizes and supresses TGF-B 

400

Most common condition associated with collodion membrane? 

What is Congenital ichthyosiform erythroderma (CIE) 


ALOX and TGM 2 mutations 

400

Cancer risk with fumarate hydratase mutation 

What is RCC 

> Leiomyoma and RCC 

400

Mutation associated with marfanoid habitus, downward lens disloation, malar flushing, livedo, ulcers 

Cystathionine beta synthase 

Dx: Homocystinuria 

Increased methionine and homocysteine in the serum and the urine 

400

Pilli torti + sensorineural hearing loss 

BSC1L - Bjornstad syndrome 

> Pilli torti = hair that is flattened and twisted. Often lightly colored  

> Crandall syndrome also has pilli torti and hearing loss with the addition of hypopituitarism 

400

Disorder associated with blue papules (venous malformation) and enchondromas

Maffucci (sporadic)  

500

Mutation associated with bullous CIE / epidermolytic hyperkeratosis / epidermolytic ichthyosis 

What is KRT 1 and 10 

500

Type of EB associated with SCC risk. Be specific - type of EB and mutation 

What is ARDEB, Col VII mutation 

500

Name the mutation associated with significant melanocytosis progressive CNS deterioration, deafness, claw deformity, cobblestoned firm ivory colored papules in scapular region, coarse fascies 

Iduronidate sulfatase (XLR) - Hunter's 

(Hurler's has similar presentation - mutation is AR a-L-iduronidase) 

500

ECM mutation is common to what to conditions? 

1. Lichen sclerosis 

2. Lipoid proteinosis 

500

Small for gestational age, short arm span, cafe au lait spots, normal head circumfrence, triangular fascies, cognitidive delay, GU abnormalities, hypoglycemia, hemimypertrophy, down turned mouth corners, frontal bossing 

Russel Silver 

> 60% due to insulin like growth factor mutation 


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