Flashcards in Genoderms Syndrome Deck (257)
erosive scalp dermatitis
Hay Wells Syndrome (AEC)
one of the ectodermal dysplasias
mutation in p63
dermatofibrosis lenticularis disseminata
elastomas/connective tissue nevi found in Buscke-Ollendorf Syndrome
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
Xeroderma Pigmentosum has early onset of which skin malignancy?
ALL OF THEM! EVENLY!
caused by a defect in nucleotide excision repair pathway
solar lentigo by age 2
lentigos plus a bunch of ocular abnormalities
(photophobia, keratitis, corneal opacification, vascularization)
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
The type of XP that does have severe neurologic abnormalities, plus deafness and ataxia
Name the findings in Gorlin syndrome
multiple BCCs (duh)
calcification of the falx cerebri
dental enamel pits
Basal Cell Nevus Syndrome (Gorlin)
sprengle deformity is congenital elevation of the scapula
loss of lateral eyebrows
peripheral venous dilitation
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?
This lesion from birth may represent a mosaic form of Apert syndrome
Nevus Comedomicus associated with what syndrome?
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
Peutz Jeghers syndrome
mucocutaneous lentigenes, intestinal polyposis, intussusception, various malignancies
Trichoeps + cylindromas
AD Multiple Trichoepitheliomas
vasodilation with cyanosis
Birt-Hogg-Dube syndrome systemic symptoms