Lipoid proteinosis.
Lipoid proteinosis is a rare autosomal recessive disorder that can affect the majority of organ systems, but most frequently presents due to its characteristic skin and mucous membrane changes. This was illustrated in a 27-year-old patient. Because its manifestations are easily misinterpreted, one might reasonably assume that the incidence of lipoid proteinosis may be higher than previously reported.
M L
ML
Ramsey
J A
JA
Tschen
J E
JE
Wolf
D000328:Adult; D001706:Biopsy; D005808:Genes, Recessive; D006801:Humans; D006818:Hyalin / Q000166:cytology; D008064:Lipidoses / Q000473:pathology*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics / Q000473:pathology*; D008297:Male; D012867:Skin / Q000473:pathology*