Lipoid proteinosis.
Lipoid proteinosis (Urbach-Wiethe disease) is a rare, recessively inherited disorder that is characterized by the deposition of hyaline-like material in the skin, oral cavity, and other tissues. It usually appears in infancy with hoarseness. We report a case of lipoid proteinosis in a 10-year-old boy that demonstrates the characteristic clinical, histologic, and ultramicroscopic features of this disease.
Konstantinov
K
K
Department of Autoimmune Serology, Statens Seruminstitut, Copenhagen, Denmark.
Kabakchiev
P
P
Karchev
T
T
Kobayasi
T
T
Ullman
S
S
D002648:Child; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000097:blood / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000648:ultrastructure*