| H00884 | |
| H number | H00884 |
| Name | Familial progressive hyperpigmentation |
| Description | Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented area are the features of this disease. |
| Category | Skin disease |
| Network | - |
| Gene | KITLG [HSA:4254] [KO:K05461] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC23.0 ICD-10: L81.8 MeSH: C564163 OMIM: 145250 |
| Reference | PMID:21368769 AUTHORS Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M TITLE KITLG mutations cause familial progressive hyper- and hypopigmentation. JOURNAL J Invest Dermatol 131:1234-9 (2011) DOI:10.1038/jid.2011.29 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 |