Self-improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family

Yi-Chia Tsai; Wei-Ting Tu; Chun-Lin Su; Yu-Wen Cheng; Pei-Ling Chi; Chao-Kai Hsu; Yang-Yi Chen

doi:10.1111/wrr.13159

Self-improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family

Wound Repair Regen. 2024 Feb 28. doi: 10.1111/wrr.13159. Online ahead of print.

Authors

Yi-Chia Tsai¹, Wei-Ting Tu², Chun-Lin Su², Yu-Wen Cheng^{3

4}, Pei-Ling Chi⁵, Chao-Kai Hsu², Yang-Yi Chen^{6

7}

Affiliations

¹ Department of General Medicine, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
² Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
³ Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁴ Department of Neurosurgery, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
⁵ Department of Dermatology, Huang PH Dermatology and Aesthetics, Kaohsiung, Taiwan.
⁶ Department of Dermatology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
⁷ Graduate Institute of Clinical Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

PMID: 38415502
DOI: 10.1111/wrr.13159

Abstract

Self-improving dystrophic epidermolysis bullosa (DEB) is a genodermatosis that is inherited autosomal dominantly or recessively, and its clinical symptoms may improve or subside spontaneously. Herein, we report a case of self-improving DEB with COL7A1 p.Gly2025Asp variant. The diagnosis was made through histopathological, electron microscopic examination, and genetic testing. The same variant is also noted on his father, who presents with dystrophic toenails without any blisters. This study highlights that idiopathic nail dystrophy could be linked to congenital or hereditary disease. Furthermore, we conducted a review of the literature on the characteristics of reported cases of self-improving DEB with a personal or family history of nail dystrophy. The results supported our findings that nail dystrophy may be the sole manifestation in some family members. We suggest that individuals suffering from idiopathic nail dystrophy may seek genetic counselling when planning pregnancy to early evaluate the potential risk of hereditary diseases.

Keywords: collagen type VII; dystrophic epidermolysis bullosa; genetic counselling; toenail dystrophy; transient bullous dermolysis of the newborn.