Bilateral Abdominal Aplasia Cutis Congenita Associated with Atrial Septal Defect: A Case Report

Pediatric Dennatology Vol. 14 No. 2 117-119, 1997

BUateral Abdominal Apiasia Cutis Congenita Associated with Atrial Septal Defect: A Case Report Giilsevin Tekinalp, M.D.,* Murat Yurdakok, M.D.,* Ate§ Kara, M.D.,* Ayta? Gokoz, M.D.,t Sedef §ahin, M.D., ± Cansin Sa^kesen, M.D.,* and Ugur Hindioglu, M.D.i Departments of '*Pediatrics, jPathotogy, and tDerrnatology. Hacettepe Utiiversit)- Faculty of Medicine, Ankara, Turkey

Abstract: A full-term infant girl who had bilateral, symmetrical, sharply defined, triangular-shaped ulcers on both sides of the umbilicus is described. A punch biopsy specimen showed histologic findings of apiasia cutis. Echocardiographic examination revealed primum-type atrial septal defect. To our knowledge, this association is the first of its kind to be reported in the literature.

Apiasia culis congenita (ACC) is characterized by congenital localized ab.sence of epidermis, demiis, and in some cases subcutaneous tis.sue, and is associated with a variety of abnormalities (1). Frieden (2) clas.sified these cases into nine groups according to patterns, causes, associated anomalies, and mode of inheritance. However, new reports on associated anomalies in patients with .ACC would improve this classification. We present a newborn infant with ACC and atrial septal defect (ASD). As far as we know, this association has not been reported previously. CASE REPORT A full-tenn infant girl was referred to our hospital at 19 hours of life because of bilateral skin lesions on the abdomen. She was bom to a 25-year-old woman.

gravida 3, para 2, after an uneventful pregnancy and delivery. The physical examination revealed bilateral, symmetrical, sharply defined, triangular-sbaped ulcers, approximately 5 X 3 cm in size on both sides of the umbilicus (Fig. 1). The ulcers were covered by a thin, transparent, epithelial membrane. A grade II/VI systolic murmur wa.s detected, but the remainder of the physical, cranial, and abdominal ultrasonographic examinations were normal. The echocardiogram revealed a primum-type atrial septal defect. Microscopic evaluation of a punch biopsy specimen obtained from the lesion showed an abrupt transition between regions of normal skin and areas of thinned epidermis and dermal fibrosis consistent with ACC (Figs. 2 and 3). The areas of ACC healed uneventfully without treatment in 3 months.

.iddres.s correspondence to Gulsevin Tekinalp, M.D., Department of Pediatrics, Hacettepe University Faculty of Medicine. Ankara, Turkey.

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DISCUSSION

Figure 1. Bilateral, symmetrical, sharply defined, triangular-shaped ulcers on both sides of the umbilicus.

Figure 2. Tissue section shows loss of skin structure with thin epidermis and fibrosis. (Hematoxylin and eosin; magnification 115x.)

The etiology of ACC is heterogeneous and often remains unknown. Vascular dismption is the most accepted theory. The pre,sence of fetus papyraceous and placental infarcts in a 5-day-old infant with abdominal ACC suggested vascular thrombosis as a possible causative factor for the development of lesions on the trunk and limbs (3). Teratogenic agents, especially antithyroid drugs (i.e., thiouracil, methimazole) may also have played a role in the pathogenesis in some patients (4). More than half of ,ACC patients have no family history of other affected members. The familial case reports suggest an autosomal dominant inheritance with variable expression, but a few families with apparent autosomal recessive transmission have also been reported (2,5), A large number of a,ssociated abnormalities have been described in patients with ACC, including holoprosencephaly, encephalomeningocele, ear malformations, colobomas, glaucoma, cleft lip and palate, absence ofthe nasal septum, choanal atresia, laryngomalacia, congenital heart diseases, umbilical hemia, renal anomalies, cryptorchidism, ambiguous genitalia, distal limb anomalies, and trisomy 13-15 (6). The literature on cardiac defects associated with ACC is limited. Patent ductus arteriosus (6), ventricular septal defect (7), tetralogy of Fallot (8), and coarctation ofthe aorta (9) have been reponed in patients with ACC. However, all of the reported patients have had some additional malformations as well a,s a positive family history. In these patients the lesions were located on the scalp. In the infant we saw there was no family history of the disorder and the lesions repre.sented the symmetrical truncal type of ACC. It is also possible that this child's ACC and ASD were not associated, but instead were coincidental events. While .ACC is a rare abnonnality, the incidence of ASD is 0.07 to 0.3 per 1000 live births (10). Thus it is unwise to draw a definite conclusion regarding this patient. Further reports are needed to clarify the association of ACC and congenital cardiac defects.

REFERENCES Figure 3, Tissue section sfiows significant fibrosis. (Trichrome-Masson; magnification 115x.)

There was no parental consanguinity. The family history and physical examination showed that neither the patient's parents, her 7-year-old sister, or 5-year-old brother had any skin defects.

1. Guillen PS, Richardo AR, Martinez FC. Aplasia cuiis congenita. J Am Acad Dermatol 1985:13:429-433. 2. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification, J Am Acad Dennaiol 1986:14:646-660. 3. Levin DL, Nolan KS, Esterly NB. Congenital absence of skin. Am J ,^cad Dermatol !980;2:203-206. 4. Hennekam RCM. Aplasia cutis congenita reminiscent of the lines of Blaschko. Hum Genet 1992;90:469^71.

Tekinalp et al: Aplasia Cutis Congenita Associated with Atrial Septal Defect

5. ltin P, Pletscher M. Familial aplasia cutis congenita of the scalp without other defects in 6 members ofthe successive generations. Dermatologica 1988;177:123-125. 6. Paltzik RL, Aiello AM. Aplasia cutis congenita associated with valvular heart disease. Cutis ]985;36:57-58. 7. Deeken JH. Caplan RM. Aplasia cutis congenita. Arch Dermatol 1970:102:386-389. 8. Lin jy, Chen HC, Jee SH, Huang FY. Familial aplasia cutis

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eongenita associated with limb anomalies and tetralogy of Fallot. Int J Dermatol 1993;32:52-53. 9. Dallapiccola B, Giannotti A, Marino B, Digilio C, Obregon G. Familial aplasia cuiis congenita and coarctation of aorta, Am J Med Genet 1992;43:762-763. 10. Fyler DC, ed. Atrial septal defect secundum. In: Nada.s' pediatric cardiology. PhUadelphia: Hanley and Belfus, ] 992:513-524.