| H00707 | |
| H number | H00707 |
| Name | Ichthyosis hystrix, Curth-Macklin type |
| Description | Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such as perinuclear tonofibril shells of keratin intermediate filaments in binucleated suprabasal keratinocytes. |
| Category | Congenital malformation |
| Network | - |
| Gene | KRT1 [HSA:3848] [KO:K07605] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC20.03 ICD-10: Q80.8 MeSH: C536088 OMIM: 146590 |
| Reference | PMID:21844476 AUTHORS Kubo Y, Urano Y, Matsuda R, Ishigami T, Murao K, Arase S, Ishida-Yamamoto A TITLE Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1. JOURNAL Arch Dermatol 147:999-1001 (2011) DOI:10.1001/archdermatol.2011.217 PMID:12603866 AUTHORS Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H TITLE In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin. JOURNAL J Invest Dermatol 120:498-500 (2003) DOI:10.1046/j.1523-1747.2003.12064.x PMID:12688839 AUTHORS Smith F TITLE The molecular genetics of keratin disorders. JOURNAL Am J Clin Dermatol 4:347-64 (2003) DOI:10.2165/00128071-200304050-00005 PMID:12196741 AUTHORS Kimyai-Asadi A, Kotcher LB, Jih MH TITLE The molecular basis of hereditary palmoplantar keratodermas. JOURNAL J Am Acad Dermatol 47:327-43; quiz 344-6 (2002) DOI:10.1067/mjd.2002.124814 |