Bart’s syndrome in a preterm neonate: A case report

Abstract

Bart’s syndrome is a rare congenital disorder characterized by aplasia cutis congenita, widespread blistering, and nail dystrophy. It is now recognized as a clinical manifestation of epidermolysis bullosa and has been reported in association with serious congenital abnormalities, including pyloric atresia, urethral stenosis, renal anomalies, rudimentary ear development, and facial dysmorphisms. We present a male neonate, 2 nd child born of a consanguineous marriage, born at 34 weeks of gestation with a birth weight of 1590 g. Physical examination revealed extensive bilateral congenital absence of skin over the lower limbs and left forearm, localized bullae, and nail abnormalities. Associated findings included a right ear deformity and a small atrial septal defect (ASD) with a left-to-right shunt confirmed by echo color Doppler. Management focused on rigorous conservative measures, including broad-spectrum intravenous antibiotics, mupirocin-impregnated dressings for wound care, and maintenance of hydration and temperature. Despite timely and appropriate measures, the infant developed severe respiratory distress and died on the 3 rd day of life. As ASD was not reported in Bart’s syndrome before, and small ASDs are common in neonates, this could be a chance association. The extent of blistering at birth may not be a proper indicator of long-term outcome. However, the presence of associated congenital abnormalities significantly worsens the prognosis of Bart’s syndrome, underscoring the necessity of a thorough systemic workup and aggressive supportive care in these vulnerable neonates.