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.

Inherited Epidermolysis Bullosa – A Case Report of Several Family Members in Three Generations

“…Nail dystrophy or anonychia is common in both entities, with distinctive scarring: Cockayne subtype is characterized with hypertrophic scars, Pasini variant results in atrophic scars. Multiple milia as an isolated skin manifestation without a previous blister formation could be a primary manifestation of DDEB (4). Due to the fact that neither of our patients presented with oral lesions, and according to the literature data revealing the rare occurrence of atrophy and milia in Koebner subtype of EBS (5), we suggested the possible existence of this form of EBS.…”

An Atlas of Lumps and Bumps: Part 20

“…23 They may occur in association with systemic disease (eg, porphyria cutanea tarda, epidermolysis bullosa, lichen planus, discoid lupus erythematosus, bullous pemphigoid,), medication use (eg, topical corticosteroids, oral cyclosporine, oral 5-fluorouracil, oral isotretinoin, oral dovitinib, oral vemurafenib, oral penicillamine), photodynamic therapy use, radiotherapy use, or trauma (chemical peels, dermabrasion, tattoos, burns, skin grafts). [35][36][37][38][39][40][41][42][43][44][45][46][47]…”