Abstract
BackgroundAplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown.Case presentationA 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team.ConclusionsAplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.
Highlights
Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role
Aplasia cutis congenita (ACC) is a heterogeneous group of disorders which was first described by Cordon in 1767
Type 5 aplasia cutis is associated with multiparous pregnancy, abnormal placental vascular anastomosis leading to placental infarctions, and fetus papyraceous [15]
Summary
Type 5 aplasia cutis congenita is a rare condition with unknown etiology. The diagnosis is made on clinical grounds which support characteristic distribution and background fetus papyraceous. Management depends on several factors including its pattern, location, severity, underlying causes, and associated anomalies. Superficial lesions are managed conservatively, whilst extensive lesions may warrant surgical grafting.
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