Ectodermal dysplasia-skin fragility syndrome: A rare case report

• Main Authors: Subhash Kashyap (Author), Vinay Shanker (Author), Neelam Sharma (Author)
• 格式: 图书
• 出版: Wolters Kluwer Medknow Publications, 2015-01-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene enco...