A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn

Epidermolysis bullosa is a rare genetic skin disease in which easily peels off and blisters are formed with mild mechanical trauma. It classified into simple, borderline, dysmorphic, mixed type. These four subtypes further according to the location of gene mutation patterns. simplex (EBS) characterized by separation epidermal or subepidermal layer. And it mostly caused keratin 5 (KRT5) KRT14 genes. Recently, test has become increasingly important for diagnosis, confirming counseling. there moderate correlation exists between EBS phenotype genotype. Here, we report case 2-day-old boy Dowling-Meara type (EBS-DM) diagnosed analysis KRT14.