Aplasia cubs congenmta associated with meningomyelocoel

Introduction

Aplasia cutis congenita is a descriptive term used to designate a localised area of congenital absence of skin. As an isolated defect, aplasia cutis congenita (ACC) is most commonly represented by a small, circular, midline lesion near the vertex of the scalp. The present case is reported because of the rarity of the condition and its association with meningomyelocoel.

Case Report

A 7-day- old, full term, normally delivered, male infant, weighing 2.8 Kgs was presented to the Skin Out Patient Department with complaint of abnormal skin over the back. The other sibling was normal and there was no family history of skin defects, no history of febrile illness, drug ingestion or exposure to X-rays during pregnancy. Examination of baby revealed 6"X3" cutaneous defect at the lumbosacral region. A lump was present which was found to be meningomyelocoel. There was sensorineural deficit in the lower limbs. Faecal incontinence was present. Presence of supernumerary digit on the left hand was a chance finding. Ultrasonography of abdomen and skull for ventricles and echocardiography were within normal limits. There was no other apparent congenital anomaly.

Discussion

Most of the cases of the congenital skin defects are found on the scalp. Less commonly, ACC presents in other body areas, in which case the defects are usually symmetrically distributed over the extensor surfaces of the individual.[1] The first case of ACC was reported by Cordon[1] in 1767 in sisters, where skin involvement was limited to the lower extre-mities. [Figure - 1] Five cases of ACC reported by Higginbottom et al[3], had cong-enital skin defe-cts in the lumbosacral region and were associated with occult spinal dysraphism, whereas one case was associated with meningomyelocoel and sensorineural deficit in the lower limbs. This case probably represents type-4 of ACC where there is congenital absence of skin overlying developmental malformations.[4]