Lipoid proteinosis in siblings.
Two sisters, aged 16 and 11, presented with skin lesions and hoarseness since early childhood. Skin lesions consisted of infiltrated warty nodules, and papules over elbows, axillae, and hands. The oral mucosa, tongue, lips, larynx, and vocal cords also showed infiltration. The characteristic beaded papules on eyelid margin and hoarseness pointed to the rare diagnosis of lipoid proteinosis.
Vedamurthy
Maya
M
Apollo and Malar Hospitals, Chennai, India.
D000293:Adolescent; D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007194:India; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012867:Skin / Q000473:pathology