Novel compound heterozygous mutations of the COL7A1 gene in a Chinese patient with recessive dystrophic epidermolysis bullosa pruriginosa and digestive symptoms successfully treated with tofacitinib

J Dermatol. 2024 Jan;51(1):e8-e10. doi: 10.1111/1346-8138.16945. Epub 2023 Sep 19.

Xingli Zhou¹, Jia Geng², Minjin Wang^{3

4}, Jinlin Yang⁵, Jian Zou⁶, Wei Li¹

¹ Department of Dermatology & Venerology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.
² Institute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, China.
³ Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China.
⁴ Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
⁵ Department of Gastroenterology and Hepatology, West China Hospital, Sichuan University, Chengdu, China.
⁶ Department of Otolaryngology-Head & Neck Surgery, West China Hospital, Sichuan University, Chengdu, China.

No abstract available

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