Aplasia Cutis Congenita on the Lower Limbs in A Full-Term Infant

Abstract

Background: Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the absence of skin at birth. It most commonly affects the scalp, while involvement of the lower extremities is uncommon. The exact cause remains uncertain and is believed to involve genetic, environmental, and intrauterine factors. Case Presentation: A full-term male infant born at 39 weeks' gestation by cesarean section presented with localized skin defects on both lower limbs. Clinical examination revealed no associated abnormalities involving the scalp, nails, limbs, or internal organs. Laboratory investigations and microbiological cultures were unremarkable. The infant was managed conservatively with topical antibacterial cream and dry adhesive dressings, resulting in complete re-epithelialization within two weeks. Follow-up at five weeks demonstrated complete healing with only mild hyperpigmentation, and at nine months the child showed normal growth without scarring or functional impairment. Discussion: Based on the absence of associated anomalies and localization to the extremities, the patient was diagnosed with Type VII ACC according to Frieden's classification. Conservative wound care proved effective, avoiding surgical intervention and preventing complications such as infection or hemorrhage. Although the precise etiology could not be established, maternal renal dysfunction and placental pathology may have contributed to the condition. Conclusion: Type VII ACC affecting the lower extremities is a rare condition with a favorable prognosis when appropriately managed. Conservative treatment can achieve excellent healing outcomes in uncomplicated cases. Further studies are needed to better understand the underlying pathogenesis and optimize management strategies.