Epidermolysis bullosa in a mother-infant dyad

Abstract

Epidermolysis Bullosa is an inherited mechanobullous disorder which presents in the neonatal period as blistering skin lesions. In this case report, we describe an uncommon presentation of Epidermolysis Bullosa Simplex in a term infant, weighing 2640 g, born to a mother who was also diagnosed with Epidermolysis Bullosa Pruriginosa during the course of the evaluation of her newborn. The clinical situation presented us with a unique dilemma with regard to routine newborn care practices including handling, skin and diaper care. Though the presentation was typically characteristic of EB, we illustrate with images the diagnostic modalities and challenges faced in the hospital while caring for this fragile skin in a low and middle-income country’s neonatal intensive care unit. This is the first reported case of a neonate with Epidermolysis Bullosa Simplex born to a mother with Epidermolysis Bullosa Pruriginosa.