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A newborn develops extensive blistering and skin erosions after minimal friction. Skin biopsy shows separation at the dermal-epidermal junction.
Heterogeneous; genes encoding skin structural proteins
- EB simplex: KRT5, KRT14 (keratin) - AD, intraepidermal
- Junctional EB: LAMA3, LAMB3, LAMC2, COL17A1 - AR, within lamina lucida
- Dystrophic EB: COL7A1 (type VII collagen) - AD or AR, sublamina densa
- Skin fragility with blistering from minimal trauma
- Severity varies from mild (localized EB simplex) to lethal (junctional EB, Herlitz type)
- Scarring (dystrophic forms)
- Mucosal involvement (severe forms)
- Squamous cell carcinoma risk (recessive dystrophic EB)
- Skin biopsy of an induced fresh blister with immunofluorescence antigen mapping to localize the cleavage plane (intraepidermal vs lamina lucida vs sublamina densa)
- Transmission electron microscopy as an adjunct to define the level of separation
- Molecular gene-panel testing (KRT5, KRT14, LAMA3, LAMB3, LAMC2, COL17A1, COL7A1) to confirm subtype and guide prognosis and counseling
- No curative therapy; multidisciplinary supportive care (dermatology, nutrition, pain, wound care nursing)
- Atraumatic wound care: non-adherent dressings, blister lancing, and infection surveillance with treatment of secondary infection
- Nutritional support and management of strictures, anemia, and contractures in severe forms
- Recessive dystrophic EB: routine surveillance for cutaneous squamous cell carcinoma