Focal dermal hypoplasia Flashcards
1
Q
Mnemonic for Focal dermal hypoplasia?
A
FOCAL- Porcupine
F: female (X-linked dominant), fat herniations through dermis
O: Osteopathia striata
C: Coloboma (hole/defect of the iris)
A: atrophic dermis leading to fat herniation (yellowish-red nodules in blaschkoid distribution)
L: lobster claw deformity, Lip papillomas (rasberry papillomas)
- PORCN gene defect
