Access Dermatology

Introduction

Abstract

Patients with generalized, severe recessive dystrophic epidermolysis bullosa are at a high risk of developing aggressive squamous cell carcinomas.  Development of these malignant tumors is a poor prognostic feature and often leads to premature demise within the first four decades of life.  Accordingly, we recommend that a very stringent skin screening criteria and disease management schedule is followed when caring for this unique group of patients.

Introduction

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare hereditary blistering disease that arises from a primary defect in the gene encoding type VII collagen.  Over time, RDEB patients can acquire a spectrum of clinical phenotypes including, but not limited to, syndactyly from constant scarring and contractures, esophageal strictures, anemia, growth retardation, squamous cell carcinomas and glomerulonephritis (1, 2).  Of importance, individuals with generalized, severe RDEB (RDEB-GS) have a 50-fold increased prevalence of squamous cell carcinoma (SCC) of the skin over the general population with almost all SCCs demonstrating rapid metastatic spread and tumor progression (1-4).  Occurring mainly over bony prominences on the hands and feet, these cancers are more aggressive than other cutaneous SCCs, occur at a much younger age, are unrelated to ultraviolet (UV) exposure, occur in all ethnicities, are anaplastic, and are the number one cause of death in RDEB. Thus, stringent skin screening criteria and disease management must be put into practice when taking care of a patient with RDEB (4).