| H00722 | |
| H number | H00722 |
| Name | Epidermolytic palmoplantar keratoderma |
| Description | Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified in KRT9. Mild form of EPPK is linked to KRT1. |
| Category | Congenital malformation |
| Network | - |
| Gene | KRT9 [HSA:3857] [KO:K07604] KRT1 [HSA:3848] [KO:K07605] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC20.30 ICD-10: Q82.8 MeSH: D053546 OMIM: 144200 |
| Reference | PMID:19341430 AUTHORS Braun-Falco M TITLE Hereditary palmoplantar keratodermas. JOURNAL J Dtsch Dermatol Ges 7:971-84; quiz 984-5 (2009) DOI:10.1111/j.1610-0387.2009.07058.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:15538081 (KRT9) AUTHORS Sehgal VN, Sardana K, Sharma S, Raut D TITLE Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report. JOURNAL Skinmed 3:323-30; quiz 331-2 (2004) DOI:10.1111/j.1540-9740.2004.03243.x PMID:1380725 (KRT1) AUTHORS Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR TITLE Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. JOURNAL Science 257:1128-30 (1992) DOI:10.1126/science.257.5073.1128 |