Mutation associated with keratitis / blindness, ichthyosis, deafness
Connexin 26
> Can also see PPK
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
Mutation associated with angiokeratomas in the bathing suit distribution
Fabry's
Mutation is alpha galactosidase (XLR)
FYI: May see maltese cross in the urine
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
Mottled / reticulated hyperpigmentation
Oral leukoplakia
Nail dystrophy
What is dyskeratosis congenita
> PNA and sinusitis often occur
> Risk of SCC and AML
Condition associated with SPINK 5 mutation and ichthyosis linearis circumflexa, trichorrhexis invaginata, atopy, severe food allergies
Netherton
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
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
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
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
Most common mutation associated with collodion membrane
What is TGM 2
Cancer associated with fibrofolliculomas and spontaneous PNX
RCC
> Birt-Hogg-Dube
> FLCN mutation
Name the mutation associated with: mousy odor of the kin, hypopigmentation, acral sclerodermoid changes
Phenylalanine hydroxylase
Dx: Phenylketonuria
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
dermatofibrosis lenticularis disseminata + poikiloderma + collagenomas
Bushke-Ollendorf
> LEMD3 (MAN1) -- antagonizes and supresses TGF-B
Most common condition associated with collodion membrane?
What is Congenital ichthyosiform erythroderma (CIE)
ALOX and TGM 2 mutations
Cancer risk with fumarate hydratase mutation
What is RCC
> Leiomyoma and RCC
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
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
Disorder associated with blue papules (venous malformation) and enchondromas
Maffucci (sporadic)
Mutation associated with bullous CIE / epidermolytic hyperkeratosis / epidermolytic ichthyosis
What is KRT 1 and 10
Type of EB associated with SCC risk. Be specific - type of EB and mutation
What is ARDEB, Col VII mutation
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)
ECM mutation is common to what to conditions?
1. Lichen sclerosis
2. Lipoid proteinosis
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