title: Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability.
abstract: 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.
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Eijiro
authors.initials: E
authors.lastname: Akasaka
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Yuriko
authors.initials: Y
authors.lastname: Takagi
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Toyomaki
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007642:Keratosis / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII