18: Inherited Congenital Diseases - Smith Flashcards
1
Q
what is a genodermatosis?
A
hereditary skin diseases transmitted through the germ cells from one generation to the next
2
Q
diffuse palmoplantar keratoderma could be …
A
tylosis or unna-thost syndrome
3
Q
mutilating keratoderma
A
vohwinkel syndrome
4
Q
describe diffuse palmoplantar keratoderma
A
- thickening of palms and soles in early infancy or by 6 yo
- smooth and uniform with eryhtematous border
- hyperhydrosis and fissuring present
- associated with esophageal CA, peptic ulcers and mucosa changes ****
- tx with antikeratolytics, soften callus w/ urea callus
5
Q
what skin condition is associated with esophageal CA, peptic ulcers and mucosa changes
A
diffuse palmoplantar keratoderma
6
Q
describe mutilating keratoderma
A
- appears in infancy
- honeycomb surface
- after age 5 constrictive bands develop around jts and autoamputation occurs (ainhum )
7
Q
what is ainhum?
A
constrictive bands develop around joints and autoamputation occurs
8
Q
describe punctate keratoderma
A
- punctate, round and oval hard lesions on palms and soles
- b/w 15 and 30 yrs of age
- onychogryphosis and longitudinal fissuring of nail can occur
- keratotic plugs
9
Q
describe ichthyosis vulgaris
A
- AD (lamellar is the recessive form)
- not present at birth
- begins b/w 1-4 yrs of age
- small fine scales on trunk and arms
- shiny appearance
- large scales on legs
- skin turnover rate less than normal, horny layer retained
10
Q
lamellar ichthyosis
A
- AR
- scaling and erythema from birth
- thin large scales that are gray-brown
11
Q
bulla formation in response to light trauma (touching)
A
epidermolysis bullosa
- seen older because worsens as the skin ages
12
Q
describe porokeratosis of mibelli
A
- benign disorder of keratinization
- plaques of hyperkeratosis with purplish/violaceous color**
- irregular contour
