Aplasia Cutis Congenita of the Lower Limb: A Case Report

Abstract

Aplasia cutis congenita type VI is a genetic disorder that presents with congenital skin absence, blistering, and nail abnormalities. We present the case of a male newborn who presented with an absence of skin in the entire left leg and the lower part of the left thigh. On the second day of life, he had new skin lesions that started to appear over the fingernail beds, nasal bridge, thighs, and buttocks. There were no other associated anomalies such as pyloric atresia, renal abnormalities, or ureteral stenosis. A diagnosis of Bart's syndrome was made based on clinical diagnosis and previous presentation in the family. The patient developed sepsis and osteomyelitis of the lower limb and eventually died.