What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause.

Rui Yang, Yuanyuan Duan, Qingtao Kong, Weiwei Li, Jie Xu, Xinyi Xia, Hong Sang

The Journal of dermatology 2020 Jul

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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. Next-generation sequencing was performed and the results were confirmed by Sanger sequencing. A genetic study revealed two novel heterozygous mutations: COL7A1:c.6742G>A (p.G2248R) in patient 1 and c.7181C>G (p.P2394R) in patient 2. Precise diagnosis was made for every patient based on clinical findings and genetic studies. We summarized the phenotype and COL7A1 mutations related to DEB-na. We report a new phenotype of DEB-na and two novel mutations in COL7A1. In addition, we emphasize the importance of careful clinical examination and genetic testing in the diagnosis of DEB-na. © 2020 Japanese Dermatological Association.

Citation

Rui Yang, Yuanyuan Duan, Qingtao Kong, Weiwei Li, Jie Xu, Xinyi Xia, Hong Sang. 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. 2020 Jul;47(7):782-786