A Singleton Male Infant With Aplasia Cutis Congenita Type V Associated With Single Umbilical Artery and Atrial Septal...

BACKGROUND Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by localized absence of skin at birth, with an incidence of approximately 1 in 10 000 live births. Type V ACC, according to Frieden's classification, is associated with fetus papyraceus or placental infarction and typically presents with symmetrical lesions on the trunk and extremities. Cases associated solely with a single umbilical artery are exceptionally rare. CASE REPORT We present a singleton male infant born at 39 weeks' gestation via cesarean section due to fetal distress and oligohydramnios. Physical examination revealed extensive bilateral, symmetrical skin defects on the trunk and lower extremities, with absent epidermis and skin appendages. Histopathology confirmed ACC. Umbilical cord examination demonstrated a single umbilical artery, and echocardiography revealed an atrial septal defect (ASD). Genetic testing ruled out chromosomal abnormalities. Treatment consisted of surgical debridement, prophylactic antibiotics, and application of human epidermal allografts with hydrocolloid dressings. Complete re-epithelialization was achieved within 50 days without complications. CONCLUSIONS This case underscores the importance of investigating placental and umbilical cord anomalies in newborns with symmetrical truncal ACC, and adds support to the vascular hypoperfusion etiology of Type V ACC. The association with single umbilical artery and ASD suggests a broader sequence of embryonic vascular disruption. Echocardiography should be considered in all cases of Type V ACC, given the potential association with cardiac anomalies.