| H00693 | |
| H番号 | H00693 |
| 名称 | ジーメンス型水疱性魚鱗癬 |
| 概要 | Ichthyosis Bullosa of Siemens (IBS) is an autosomal dominant disorder characterized by mild hyperkeratosis and blister formation. The blistering is superficial, and areas of peeling of the skin are known as the 'Mauserung phenomenon'. IBS shows similar features to those in epidermolytic hyperkeratosis, but can be distinguished by the absence of erythema. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | KRT2E [HSA:3849] [KO:K07605] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Ichthyosis bullosa of Siemens is a milder form of Bullous congenital ichthyosiform erythroderma (BCIE) described in H00691. |
| リンク | ICD-11: EC20.03 ICD-10: Q80.8 MeSH: D053560 OMIM: 146800 |
| 文献 | PMID:10688369 著者 Suga Y, Arin MJ, Scott G, Goldsmith LA, Magro CM, Baden LA, Baden HP, Roop DR タイトル Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. 雑誌 Exp Dermatol 9:11-5 (2000) DOI:10.1034/j.1600-0625.2000.009001011.x PMID:15949009 著者 Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H タイトル Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 雑誌 Br J Dermatol 152:1353-6 (2005) DOI:10.1111/j.1365-2133.2005.06598.x PMID:10233323 著者 Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA タイトル Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. 雑誌 Br J Dermatol 140:689-95 (1999) DOI:10.1046/j.1365-2133.1999.02772.x |