| H00613 | |
| H番号 | H00613 |
| 名称 | 小児性皮質性骨増殖; カフィー病 |
| 概要 | Infantile cortical hyperostosis (ICH) is a self-limiting inflammatory disease characterized by swelling of soft tissues and periosteal hyperostosis mainly affecting long bones, mandible, clavicles, and ribs. It usually affects infants less than 6 months of age and spontaneously heals in the first year of life. However severe prenatal form of ICH is lethal in which extensive hyperostosis affects nearly all long bones and the fetus presents with polyhydramnios. |
| カテゴリ | 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | COL1A1 [HSA:1277] [KO:K06236] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.1Y ICD-10: M89.8 MeSH: D006958 OMIM: 114000 |
| 文献 | PMID:18848116 著者 Kamoun-Goldrat A, le Merrer M タイトル Infantile cortical hyperostosis (Caffey disease): a review. 雑誌 J Oral Maxillofac Surg 66:2145-50 (2008) DOI:10.1016/j.joms.2007.09.007 PMID:18553566 著者 Kamoun-Goldrat A, Martinovic J, Saada J, Sonigo-Cohen P, Razavi F, Munnich A, Le Merrer M タイトル Prenatal cortical hyperostosis with COL1A1 gene mutation. 雑誌 Am J Med Genet A 146A:1820-4 (2008) DOI:10.1002/ajmg.a.32351 PMID:21567126 著者 Cerruti-Mainardi P, Venturi G, Spunton M, Favaron E, Zignani M, Provera S, Dallapiccola B タイトル Infantile cortical hyperostosis and COL1A1 mutation in four generations. 雑誌 Eur J Pediatr 170:1385-90 (2011) DOI:10.1007/s00431-011-1463-0 |