Aplasia Cutis Congenita Associated with Duodenal Atresia: A Marker of Underlying Congenital Abnormalities: A Case Report
Case Report
DOI:
https://doi.org/10.55175/cdk.v53i10.2180Keywords:
Aplasia cutis congenita, case report, congenital skin abnormality, duodenal atresia, skinAbstract
Introduction: Aplasia cutis congenita (ACC) is an uncommon congenital skin defect characterized by the absence of skin, commonly in the scalp. ACC has been found to be accompanied by certain embryological malformations, so it may indicate underlying dysplasia. This case report emphasizes that ACC is not only a superficial finding but also serves as an indicator of underlying abnormalities. Case: A premature female neonate was born via spontaneous delivery with respiratory distress. There was an absence of the epidermis in the region of colli, bilateral antebrachia to dorsum manus, and bilateral distal femoral to dorsum pedis with firm borders, visible blood vessels, underlying muscles, and agenesis of the ears and nose. On the third day, the patient vomited blood, and the babygram examination showed a double bubble appearance. The patient was diagnosed with ACC and duodenal atresia. The patient was treated with D10% infusion, cefotaxime injection, parenteral amino acid, oral sucralfate, and gentamicin ointment. While preparing for referral, the patient's condition deteriorated, and the patient died on the 7th day of treatment. Discussion: ACC is characterized by the absence of skin and underlying tissues, and its classification is not always clearly defined. Developmental anomalies of the skin and subcutaneous tissue, such as ACC, can indicate serious underlying conditions. Prognosis depends on the severity of other genetic disorders. In this case, definitive surgical management of the duodenal atresia was not performed because the patient’s clinical condition deteriorated before the intervention could be undertaken. Conclusion: This unusual combination highlights the multisystem nature of ACC and the challenges of applying Frieden’s classification. Extensive or atypical ACC warrants thorough evaluation for associated congenital abnormalities to guide management and prognosis.
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Copyright (c) 2026 Lidya Renaningtyas Setia Budi, Martin Panglipuringtyas Setia Budi, Josephine Passareta Riduvan Frans Nadjira, Endang Soekmawati1, Josef Setia Budi
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