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Dominant Dystrophic Epidermolysis bullosa of Cockayne-Touraine in Father and Son: Clinical and Ultrastructural Similarities

 

作者: L. De Raeve,   G. De Dobbeleer,   M. Song,   G. Achten,  

 

期刊: Dermatology  （Karger Available online 1988）
卷期: Volume 176, issue 2  

页码: 91-94

 

ISSN:1018-8665

 

年代: 1988

 

DOI:10.1159/000248678

 

出版商: S. Karger AG

 

关键词: Dominant dystrophic epidermolysis bullosa of Cockayne-Touraine;Electron microscopy

 

数据来源: Karger

 

摘要:

Dominant dystrophic epidermolysis bullosa of Cockayne-Touraine occurred in a father and his son. Clinically, the child presented evident blistering, while the father, despite of his work, where minimal skin traumata frequently occur, was rarely affected. Absent or rudimentary anchoring fibrils were seen in the normal-appearing skin of the father; this suggests that other factors may play a role in the dermolytic separation.

 

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