雑誌文献を検索します。書籍を検索する際には「書籍検索」を選択してください。

検索

書誌情報 詳細検索 by 医中誌

Japanese

Simple Ulcer-like Lesion of Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Report of Two Cases Atsushi Yoden 1 , Tomoki Aomatsu 1 , Hiroshi Tamai 1 1Department of Pediatrics, Osaka Medical College, Takatsuki, Japan Keyword: 無汗性外胚葉形成不全免疫不全症候群 , 回盲部潰瘍 , NEMO , Behçet病 , 単純性潰瘍 pp.1090-1096
Published Date 2011/6/25
DOI https://doi.org/10.11477/mf.1403102282
  • Abstract
  • Look Inside
  • Reference

 X-linked recessive AEDID(anhidrotic ectodermal dysplasia with immunodeficiency)is caused by hypomorphic mutations in the NF-κB(nuclear factor-κB)NEMO(essential modulator)gene on the X chromosome. AEDID is a disease whose clinical features include hypohidrosis due to lack of eccrine glands, conical teeth, sparse hair, and immunodeficiency associated with frequent bacterial infections and sometimes severe intestinal problems. Affected patients suffer from inflammatory disorders like IBD(inflammatory bowel diseases). Ileocolonic endoscopy often shows multiple ileocecal ulcers with nonspecific inflammation. Gastrointestinal ulcers resemble those of simple ulcers and Behçet's disease. AEDID is easily diagnosed due to its characteristic clinical manifestations. We encountered 2 cases with AEDID which resembled IBD-like ulcers.


Copyright © 2011, Igaku-Shoin Ltd. All rights reserved.

基本情報

電子版ISSN 1882-1219 印刷版ISSN 0536-2180 医学書院

関連文献

もっと見る

文献を共有