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Case Report
2001:67:6;329-329
PMID: 17664792

Aplasia cubs congenmta associated with meningomyelocoel

Sunil K Gupta, Devinder K Jasuja, Satish K Pandit
 Department Skin and VP, Pt. B.D.S. PGIMS, Rohtak, India

Correspondence Address:
Sunil K Gupta
33-L, Model Town, Rohtak
India
How to cite this article:
Gupta SK, Jasuja DK, Pandit SK. Aplasia cubs congenmta associated with meningomyelocoel. Indian J Dermatol Venereol Leprol 2001;67:329
Copyright: (C)2001 Indian Journal of Dermatology, Venereology, and Leprology

Abstract

Aplasia cutis congenita is a rare congenital anomaly where skin is missing over part of the body. Most of the cases are present on the scalp. We present a case of ACC where skin was absent over the lumbosacral area. It was associated with meningomyelocoel.
Keywords: Aplasia cuts congenita (ACC)

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]

References
1.
Mannino FL, Jones KL, Benirschke K. Congenital skin defects and fetus papyraceus. J Pediatr 1977;91:559.
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2.
Cordon M. Au fujet de trois enfans de la meme mere,nes avec une partie des extremities aunuee de peau. J de Med de Chir Parm ect. 1767; 3 :2183.
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3.
Higginbottom MC, Jones KL, James HE, et al. Aplasia cuits congenita :A cutaneous marker of occult spinal dysraphism. J Pediatr 1980;96:627-629.
[Google Scholar]
4.
Atherton DJ. Naevi and other developmental defects. In : Textbook of Dermatology. Edited by Rook A, Wilkinson DS, Ebiling FJG. 6th edn, Oxford university Press 1998; 519-616.
[Google Scholar]

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