Bart Syndrome: A Case with Extensive Skin Lesions and Multiple Congenital Anomalies in a Preterm Neonate

Epidermolysis bullosa (EB) with congenital absence of skin (CAS) (Bart syndrome) is a rare condition characterized by the coexistence of any form of EB and congenital localized absence of skin, also known as aplasia cutis congenita (ACC). It represents a subset of ACC with associated epidermal fragility, often leading to blisters, nail dystrophy, and additional congenital anomalies.

We describe a case of a 2-day-old male preterm infant who presented with CAS over the cheeks, lower abdomen, and extremities. Blisters were noted on the left hand fingers, accompanied by nail dystrophy. The clinical presentation was suggestive of a skin fragility disorder. Laboratory investigations and imaging studies revealed multiple associated congenital anomalies. Based on the clinical findings, a diagnosis of Bart syndrome was established.

EB with CAS (Bart syndrome) should be considered in neonates presenting with congenital skin absence and signs of epidermal fragility. Early recognition and multidisciplinary management are crucial for addressing potential complications and improving patient outcomes.