PMC4017779_01
Pedigree showing the affected mother (white asterisk), unaffected partner (black asterisk), and affected infant (white arrow).
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Her partner had no known family or personal history of EB (Figure 1:Pedigree).
The newborn with widespread facial (asterisk) and forearm skin blistering (arrow).
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Within 3 days, diffuse erythematous and bullous lesions progressively appeared and covered the neonate's chin, forearms, face (Figure 2), thumbs, fingers, left buttocks, remaining area of the back, and both legs covering approximately 30% of its total body surface.
Immunofluorescence staining of the dermal-epidermal junction with antibodies to type VII collagen showing a control normal expression (a) and the minimal expression (b) of type VII collagen.
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ADDEB. A skin biopsy from the infant's back was performed and immunofluorescence mapping confirmed the suspected ADDEB in this neonate with low expression of type VII collagen in the basement membrane (Figure 3).