Genodermatoses Flashcards
1
Q
signs/symptoms of Tuberose Sclerosis
A
Periungual fibromata Longitudinal ridging infantile seizures ash-leaf macule facial angiofibromas bone cysts enamel pitting
2
Q
what are ash leaf macules
A
depigmented macules
3
Q
case - Born at term after normal pregnancy. 24 hours later: widespread blistering and loss of skin. Progressed to extensive skin loss occurring with any movement or handling of the baby
A
Epidermolysis Bullosa (EB)
4
Q
what are the 3 types of Epidermolysis Bullosa (EB)
A
simplex
junctional
dystrophic
5
Q
what disease is cafe-au lait macules seen in
A
NF type 1
6
Q
skin signs of NF type 1
A
cafe au lait
neurofibromas
axillary or inguinal freckling
lisch nodules
