Lipoid proteinosis in three children.
We report on three children with lipoid proteinosis, an autosomal recessive disorder characterized by the deposition of hyaline-like material in the skin, mucous membranes and other tissues. All cases had characteristic hoarseness. Other symptoms observed were infiltrated whitish plaques and pock-like scars on the face, papules on the palpebral margins, and infiltrates in the mucous membranes of the lower lip and tongue. Two of the children were siblings whose parents were first cousins.
Böhme
M
M
Department of Dermatology, Karolinska Hospital, Stockholm, Sweden.
Wahlgren
C F
CF
D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006685:Hoarseness / Q000209:etiology; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000235:genetics / Q000473:pathology; D008297:Male