Article
What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause.
The Journal of dermatology - 1 Jul 2020
Yang Rui, Duan Yuanyuan, Kong Qingtao, Li Weiwei, Xu Jie, Xia Xinyi, Sang Hong
Abstract excerpt
Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in the COL7A1 gene. DEB, nails only (DEB-na), is a rare type of DEB. Patients with DEB-na can be overlooked, and genetic testing is helpful to determine the correct diagnosis. We collected two families with DEB-na. Clinical information was analyzed. Ultrastructural analysis of the skin tissue was performed. Blood samples were obtained....
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