Phenotypic Heterogeneity of Epidermolysis Bullosa Associated With the Recurrent Pathogenic Variant p.(Arg2000Trp) in Plectin

The document discusses the phenotypic heterogeneity of a specific variant of epidermolysis bullosa (EB), a group of inherited blistering skin diseases. The variant, known as p.(Arg2000Trp) in plectin, is associated with Ogna epidermolysis bullosa simplex, a subtype of EB. Over the past 2 years, a diagnostic lab screened DNA samples from over 600 individuals with suspected EB and identified 12 subjects (5 males, 7 females, median age of 35 years) heterozygous for p.(Arg2000Trp). Clinical diagnoses varied among these individuals, with 7 diagnosed with EB simplex, 3 with dystrophic EB, and 2 with uncertain diagnoses. The severity of blistering also varied, ranging from localized to more generalized. The study concludes that the clinical features of this specific plectin variant are protean, indicating a wide range of phenotypic expressions, which should be considered in the clinical assessment and diagnosis of patients with EB.