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).