Akasaka Eijiro, Nakano Hajime, Takagi Yuriko, Toyomaki Yuka, Sawamura Daisuke
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Pediatr Dermatol. 2017 Mar;34(2):e106-e108. doi: 10.1111/pde.13047. Epub 2016 Dec 23.
We report a Japanese pedigree with dominant dystrophic epidermolysis bullosa (DDEB) harboring the p.G2251E mutation of COL7A1. The proband of this pedigree presented with multiple milia as an isolated skin manifestation without a history of blistering and subsequently developed generalized intractable blisters, suggesting that multiple milia could be a primary manifestation of DDEB. Her mother exhibited nail dystrophy and pruritic nodules and her elder sister was unaffected, despite having the same COL7A1 mutation. Inter- and intrafamilial clinical variability are often observed in DDEB, so we should be aware of this factor to provide appropriate genetic counselling.
我们报告了一个携带COL7A1基因p.G2251E突变的显性营养不良性大疱性表皮松解症（DDEB）的日本家系。该家系的先证者表现为多发性粟丘疹，这是一种孤立的皮肤表现，无水疱病史，随后发展为全身性顽固性水疱，提示多发性粟丘疹可能是DDEB的主要表现。她的母亲表现出指甲营养不良和瘙痒性结节，而她的姐姐尽管有相同的COL7A1突变，但未受影响。DDEB中常观察到家系间和家系内的临床变异性，因此我们应意识到这一因素，以便提供适当的遗传咨询。
