KEGG   DISEASE: ジーメンス型水疱性魚鱗癬
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC20  遺伝性角化症
    H00693  ジーメンス型水疱性魚鱗癬
病因遺伝子 
KRT2E [HSA:3849] [KO:K07605]
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
MeSH: D053560
OMIM: 146800
文献    
  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
文献    
  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
文献    
  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
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