Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress-induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging. We report a case of a male infant delivered at 35 weeks and 6 days via cesarean delivery to a mother with a complicated medical and obstetric history, including sickle cell disease and intrauterine fetal demise of one twin. At birth, the infant exhibited denuded skin on the right lower extremity and later developed erosions at peripheral IV sites. Initial differential diagnoses included infectious etiologies and Type V aplasia cutis. Infectious workup was unremarkable. An epidermolysis bullosa genetic panel identified a heterozygous pathogenic variant in COL7A1 (c.6007G > A, p.Gly2003Arg), confirming the diagnosis of dominant DEB. The infant was managed with supportive wound care and discharged in stable condition with dermatology and genetics follow-up. This case underscores the importance of considering DEB in the differential diagnosis of neonatal skin lesions, especially in the context of a complex perinatal history. Early recognition and genetic confirmation are essential for appropriate management and family counseling.