| H00684 | |
| H番号 | H00684 |
| 名称 | 先天性爪甲硬厚症 |
| 概要 | Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A, KRT6B, KRT16, or KRT17. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (PC1) KRT16 [HSA:3868] [KO:K07604] (PC2) KRT17 [HSA:3872] [KO:K07604] (PC3) KRT6A [HSA:3853] [KO:K07605] (PC4) KRT6B [HSA:3854] [KO:K07605] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.Y ICD-10: Q84.5 MeSH: D053549 OMIM: 167200 167210 615726 615728 |
| 文献 | PMID:21890491 著者 McLean WH, Moore CB タイトル Keratin disorders: from gene to therapy. 雑誌 Hum Mol Genet 20:R189-97 (2011) DOI:10.1093/hmg/ddr379 PMID:21326300 著者 Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ タイトル A large mutational study in pachyonychia congenita. 雑誌 J Invest Dermatol 131:1018-24 (2011) DOI:10.1038/jid.2011.20 PMID:7545493 著者 Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ タイトル Mutation of a type II keratin gene (K6a) in pachyonychia congenita. 雑誌 Nat Genet 10:363-5 (1995) DOI:10.1038/ng0795-363 PMID:7539673 著者 McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al. タイトル Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 雑誌 Nat Genet 9:273-8 (1995) DOI:10.1038/ng0395-273 PMID:9618173 著者 Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH タイトル A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. 雑誌 Hum Mol Genet 7:1143-8 (1998) DOI:10.1093/hmg/7.7.1143 |