212 Challenges in the management of extensive aplasia cutis congenita

BackgroundAplasia cutis congenita (ACC) is a rare group of congenital disorders characterised by focal or widespread absence of skin, predominantly affecting the scalp, although other areas of involvement have been reported. The exact pathogenesis is unknown, although several theories have been proposed including neural tube defect, vascular compromise from placental insufficiency, intra-uterine infections, genetic mutations, teratogens, and ischemic or thrombotic events related to fetus papyraceus. ACC patients with large scalp defects, often associated with skull defects and/or exposed dura and superior sagittal sinus have reportedly suffered morbidity or demised from catastrophic haemorrhage from the sagittal sinus, and/or suffered meningitis. Diagnosis is mostly clinical. There is no consensus for the management of ACC given the rarity and variability in terms of the clinical presentation (site) and extent of ACC. Management approaches include conservative treatment, which involves dressing of the aplastic skin until complete re-epithelialisation, and surgical management, which include excision and closure, skin grafting, local flaps and tissue expansion.ObjectivesThis report describes the treatment of an extensive case of ACC.MethodsThe child was managed by a multidisciplinary team comprising the neonatologist, paediatric dermatologist, plastic surgeon, hand surgeon and geneticists.ResultsThe areas of involvement included most of the scalp and posterior neck, with sparing of the forehead, anterior chest and abdomen, with small portions of the back. Small areas of ACC at joint creases of lower limbs and bilateral upper limbs and bilateral groin regions were also noted. In all, 33.5% body surface area was involved. Both conservative and surgical approaches were considered. On top of the inherent risks associated with conservative management of ACC, such as wound infection, electrolyte abnormalities, and delayed wound healing, this baby was at risk of potentially catastrophic haemorrhage and meningitis due to the large scalp defect. As such, coverage for the scalp was prioritised. Options for skin cover included allograft versus autograft; latter was preferred due to reduced risk of rejection. This approach was limited by the availability of donor sites due to extensive ACC and risks of donor site morbidity. Cultured epithelial autograft (CEA) was preferred but could only be ready after three weeks of tissue culture. As a bridging measure, artificial der