Toenail Dystrophy With COL7A1 Glycine Substitution Mutations Segregates as an Autosomal Dominant Trait in 2 Families With Dystrophic Epidermolysis Bullosa

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

“…22 In the published reports, glycine substitution such as Gly1595Arg, Gly1815Arg, Gly2251Glu, and Gly2287Arg can lead to solely toenail dystrophy without blisters. 23,24 Similarly, in our case, the proband's father has missense glycine substitution Gly2025Asp and has toenail dystrophy without skin fragility.…”

Case Report Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa

“…By contrast, the mutation p.G1815R (rs121912841) was previously detected in DEB patients with toenail dystrophy (Sato-Matsumura et al, 2002). Similarly, all of the affected individuals in the 3-generation family with DEB-Pr showed typical manifestations of DEB-Pr and toenail dystrophy.…”

Nail Involvement in Patients with Epidermolysis Bullosa: A Systematic Review

“…Of the 110 articles retrieved from the electronic databases, 36 articles met the inclusion criteria (Figure 1 ) 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 . Most were case reports and small case series ≤6 patients, except for two 27 , 41 that reported 18 and 8 patients, respectively.…”

“…Of the 110 articles retrieved from the electronic databases, 36 articles met the inclusion criteria (Figure 1) 7–41 . Most were case reports and small case series ≤6 patients, except for two 27,41 that reported 18 and 8 patients, respectively.…”