A rare case of Aplasia Cutis Congenita type VII in a Nigerian newborn: Diagnostic and psychological challenges in a low-resource setting

Abstract

Background: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by the localized absence of skin. Type VII ACC, which predominantly affects the lower limbs, is extremely rare and usually not associated with blistering, making diagnosis challenging.

Case presentation: This reports a term male neonate delivered by caesarean section with normal APGAR scores and anthropometric parameters, who presented with bilaterally symmetrical areas of absent skin over both lower limbs and several smaller lesions elsewhere. The denuded areas were covered by translucent membranes with visible vasculature, and the calves appeared swollen and hypoplastic. No blisters or mucosal lesions were observed. The infant was markedly irritable on touch. Supportive wound care with warm saline-soaked gauze and breastfeeding were initiated, but the father declined referral and further investigations due to financial and cultural constraints. Partial epithelialization occurred within 24 hours, and minor lesions healed rapidly. The family discharged themselves after three days; the baby died at home 11 days later.

Conclusion: This case highlights the diagnostic dilemma of extensive, symmetrical, non-blistering ACC Type VII and the challenges of managing rare congenital conditions in low-resource settings. While differential diagnoses include severe forms of epidermolysis bullosa and vascular-disruption variants, definitive classification requires histopathologic or molecular studies. Early counselling and attention to sociocultural barriers are vital to improve outcomes.