title: Lipoid proteinosis: report of three siblings.
abstract: 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.
authors.affiliation: Skin Research Center, Shahid Beheshti University, MC Shohada-e Tajrish Hospital, Tehran, Iran. marjan406@yahoo.com
authors.forename: Soheila
authors.initials: S
authors.lastname: Nasiri
authors.forename: Nima
authors.initials: N
authors.lastname: Sarrafi-Rad
authors.forename: Sima
authors.initials: S
authors.lastname: Kavand
authors.forename: Marjan
authors.initials: M
authors.lastname: Saeedi
mesh_terms: 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
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins