Derm Flashcards
(4 cards)
1
Q
Hidrotic ectodermal dysplasia:
A
AD, GJB6
Triad: thickened, small nails; hypotrichosis; palmoplantar hyperkeratosis
Normal teeth & sweat
4 missense account for 100% of path variants
2
Q
Hypohidrotic ectodermal dysplasia:
A
EDA (XL, 95%), EDAR,EDARADD (AD/AR)
peeling skin & perioral hyperpigmentation, hypotrichosis, hypohidrosis, hypodontia,
3
Q
A
4
Q
Oculocutaneous albinism:
A
XLR/AR: OCA1, OCA2, TRYP1, SLC45A2, SLC24A5, LRMDA, TRYP2, GPR143
OCA1A: no melanin synthesis: white skin/hair, transluscent iris, foveal hypoplasia, nystagmus
OCA1B: some melanin: milder eye & skin featres
OCA2: same eye problems as 1, but wide range of pigmentation from minimal to near normal
