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Systemic aplasia cutis congenita: A case report and review of the literature

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Abstract

Aplasia cutis congenita (ACC) belongs to a heterogeneous group of conditions characterized by a congenital absence of skin, usually on the vertex of the scalp. It can occur as an isolated defect or can be associated with a number of other congenital anomalies. Two cases of systemic ACC of a more severe and extensive type were recently reported. Here, we describe the third case of systemic ACC and review the available literature. A female infant was born with an extensive defect of the skin, a skull defect, imperforate hymen, and some other anomalies. She died soon after birth probably due to asphyxia and dehydration. We also compared the pathologic findings of the current case with those of the other two previously reported cases. This case suggests that systemic ACC might be recognized as a new syndrome. A limitation is that there is only 1 case, and it is difficult to gain a deeper understanding of its etiology and diagnostic criteria.

Introduction

Aplasia cutis congenita (ACC) is an uncommon disorder presenting with a focal defect of the skin at birth, frequently involving the midline over the skull vertex (70%) and any other region of the body [1], [2], [3], [4], [5]. ACC could present as an isolated lesion or might be associated with a number of other congenital anomalies. Since its first description in 1767 by Cordon, around 500 similar cases have been reported so far [6]. The lesions in those cases are quite variable, ranging from only focal absence of skin to a complete lack of epidermis, subcutaneous tissue, bone, or even the dura [3], [5], [7], but most of them presented a focal defect. Recently, two cases of a more severe and extensive form, an almost complete absence of skin, as well as some other anomalies, were reported [8], [9]. Here we present the third such lethal case. A female infant was born with an almost complete absence of skin and subcutaneous tissue except for only a focal area on the perineum. The whole body was covered with thin fibrous tissue. Other anomalies, including a lack of skull vertex, right nasal wing atresia, imperforate hymen, external auditory canal atresia, etc., were also noted.

Section snippets

Case report

The female infant was born in the 36th week of gestation, with a birth weight of 1285 g (<3rd centile), a head circumference of 29.5 cm (10th centile), and a chest circumference of 25 cm (<3rd centile). Her crown-rump had a length of 30 cm, the humerus 7 cm, the forearm 6 cm, the femur 8 cm, and the tibia 7 cm.

Her parents are healthy Chinese with non-consanguinity. The family history did not include congenital malformation or other illnesses. The father was 28 years old. The mother was 21 years old and

Discussion

ACC belongs to a heterogeneous group of disorders, characterized by deficiency or absence of skin at birth. ACC occurs as an isolated defect, or with one or more congenital anomalies as part of the syndrome. To date, more than 500 ACC cases have been reported. In most of these cases, skin defect varied in size, ranging from pinhead to an extensive symmetrical truncal lesion. The lesion may be single or multiple, but usually does not involve the whole body [10]. In 1998, Park et al. [8] reported

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These authors contributed equally to this work.

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