H00885 | |
H番号 | H00885 |
名称 | 色素失調症; 伊藤白斑 |
概要 | Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system. The hypomelanotic lesions are present at birth or usually appear in the first year of life. Hypomelanosis of Ito includes many different states of chromosomal mosaicism. |
カテゴリ | 皮膚疾患 |
ネットワーク | - |
病因遺伝子 | chromosomal mosaicism |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: EC23.2Y ICD-10: L81.8 MeSH: D010859 OMIM: 300337 |
文献 | PMID:15708290 著者 Passeron T, Mantoux F, Ortonne JP タイトル Genetic disorders of pigmentation. 雑誌 Clin Dermatol 23:56-67 (2005) DOI:10.1016/j.clindermatol.2004.09.013 PMID:22150346 著者 Torchia D タイトル Mosaic pigmentation disorders and associated syndromes. 雑誌 J Dermatol 39:414-5 (2012) DOI:10.1111/j.1346-8138.2011.01337.x |