Lipoid proteinosis: report of three siblings.
Lipoid proteinosis is a very rare genodermatosis characterized by infiltration of hyaline material into the skin, oral cavity, larynx and internal organs. It usually presents in infancy with hoarseness. Although about 300 cases have been reported in the literature, the occurrence of the disease is rare in siblings. In this report we introduce three siblings with this disease.
Nasiri
Soheila
S
Skin Research Center, Shahid Beheshti University, MC Shohada-e Tajrish Hospital, Tehran, Iran. marjan406@yahoo.com
Sarrafi-Rad
Nima
N
Kavand
Sima
S
Saeedi
Marjan
M
D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D016326:Extracellular Matrix Proteins / Q000172:deficiency / Q000235:genetics; D005260:Female; D018703:Founder Effect; D005858:Germany / Q000208:ethnology; D006685:Hoarseness / Q000209:etiology; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D010641:Phenotype; D012867:Skin / Q000473:pathology; D013019:South Africa / Q000453:epidemiology
C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins