Lipoid proteinosis Flashcards
1
Q
Lipoid proteinosis:
A
- Gene: ECM1 (same as in LS)
- first sign is hoarse cry from infiltrated vocal cords
- buildup of proteinaceous material in skin, tongue, mucosa, pharynx (large tongue, yellowish-greyish papules on skin, string of pearls on eyelids, respiratory issues (may require tracheostomy))
- pathognomonic bean shaped calcifications in temporal lobes or hippocampus
