A rare case of recessive dystrophic epidermolysis bullosa with aplasia cutis and pyloric stenosis

Abstract

DDEB: dominant dystrophic epidermolysis bullosa DEB: dystrophic epidermolysis bullosa EB: epidermolysis bullosa JEB: junctional epidermolysis bullosa PS: pyloric stenosis RDEB: recessive dystrophic epidermolysis bullosa INTRODUCTION Epidermolysis bullosa (EB) encompasses a phenotypically and genetically heterogeneous group of inherited skin disorders. Mutations in genes encoding structural proteins in the epidermis and dermis result in marked mechanical fragility, leading to widespread blisters, erosions, and nonhealing wounds following minor trauma. EB can be divided into 4 major types, EB simplex, junctional EB, dystrophic EB, and Kindler EB, based on the level of tissue separation in the skin. EB can be further subdivided based on phenotypic features, mode of inheritance, targeted protein and expression in the skin, and identification of mutation(s) present. Dystrophic EB (DEB) is caused by mutations in the type VII collagen gene (COL7A1). The gastrointestinal tract is often affected in patients with autosomal recessive DEB (RDEB), and this most typically manifests with nutritional deficiencies, failure to thrive, constipation, and the development of esophageal strictures over time. The occurrence of pyloric stenosis (PS) with EB has been described almost exclusively in patients with junctional EB (JEB). We present an uncommon case of PS in a patient with RDEB and review the literature regarding the coexistence of these rare conditions.