Lipoid proteinosis: report of three familial cases.
Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in siblings is very rare. We report three familial cases of lipoid proteinosis involving a brother and sister and their nephew.
Ehsani
Amir H
AH
Tehran University of Medical sciences, Razi Hospital, Tehran, Iran.
Ghiasi
Maryam
M
Robati
Reza Mahmoud
RM
D000293:Adolescent; D000328:Adult; D002648:Child; D002921:Cicatrix / Q000209:etiology; D005143:Eyelids / Q000473:pathology*; D005260:Female; D005546:Forehead; D006685:Hoarseness / Q000209:etiology*; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D008297:Male; D012867:Skin / Q000473:pathology*; D012871:Skin Diseases / Q000209:etiology; D014059:Tongue / Q000473:pathology