| H00883 | |
| H番号 | H00883 |
| 名称 | 類脂質蛋白症; 遺伝性ヒアリン皮膚粘膜蓄積症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | ECM1 [HSA:1893] [KO:K23867] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.Y ICD-10: E75.5 MeSH: D008065 OMIM: 247100 |
| 文献 | PMID:17063986 著者 Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM タイトル Lipoid proteinosis: case report and review of the literature. 雑誌 Acta Otorhinolaryngol Ital 26:162-7 (2006) PMID:15533571 著者 Acar A, Eryilmaz A, Gocer C, Akmansu H, Korkmaz H タイトル Lipoid proteinosis of larynx: review of four cases. 雑誌 Int J Pediatr Otorhinolaryngol 68:1557-61 (2004) DOI:10.1016/j.ijporl.2004.07.012 |