| H00883 | |
| H number | H00883 |
| Name | Lipoid proteinosis; Urbach-Wiethe disease |
| Description | Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. The disorder has been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene. The function of the protein extracellular matrix protein 1 gene is still unclear. |
| Category | Congenital malformation |
| Network | - |
| Gene | ECM1 [HSA:1893] [KO:K23867] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.Y ICD-10: E75.5 MeSH: D008065 OMIM: 247100 |
| Reference | PMID:17063986 AUTHORS Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM TITLE Lipoid proteinosis: case report and review of the literature. JOURNAL Acta Otorhinolaryngol Ital 26:162-7 (2006) PMID:15533571 AUTHORS Acar A, Eryilmaz A, Gocer C, Akmansu H, Korkmaz H TITLE Lipoid proteinosis of larynx: review of four cases. JOURNAL Int J Pediatr Otorhinolaryngol 68:1557-61 (2004) DOI:10.1016/j.ijporl.2004.07.012 |