A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene

• 主要な著者: Lihong Chen (著者), Cheng Quan (著者), Jie Zheng (著者), Meng Pan (著者), Xiaoqing Zhao (著者)
• フォーマット: 図書
• 出版事項: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma. Blisters and erosions in AEI are wides...