| H00885 | |
| H number | H00885 |
| Name | Hypomelanosis of Ito; Pigmentary mosaicism |
| Description | 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. |
| Category | Skin disease |
| Network | - |
| Gene | chromosomal mosaicism |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC23.2Y ICD-10: L81.8 MeSH: D010859 OMIM: 300337 |
| Reference | PMID:15708290 AUTHORS Passeron T, Mantoux F, Ortonne JP TITLE Genetic disorders of pigmentation. JOURNAL Clin Dermatol 23:56-67 (2005) DOI:10.1016/j.clindermatol.2004.09.013 PMID:22150346 AUTHORS Torchia D TITLE Mosaic pigmentation disorders and associated syndromes. JOURNAL J Dermatol 39:414-5 (2012) DOI:10.1111/j.1346-8138.2011.01337.x |