Familial Aplasia Cutis Congenita With Exposure of the Meningeal Membrane: A Case Report.

Aplasia cutis congenita (ACC) is a rare congenital malformation characterized by the localized absence of skin and occasionally subcutaneous and bone tissues. Its etiology is multifactorial, and management ranges from conservative wound care to surgical intervention. We report the case of a male newborn presenting with a 4-5 cm ulcerated lesion at the vertex of the scalp, with complete absence of bone tissue and dural exposure. Physical examination revealed syndromic features (facial asymmetry, hypertelorism, low-set ears, and cutaneous syndactyly) and an atrial septal defect. A strong autosomal dominant family history of ACC was also noted. The case described best fits Frieden's type 9 classification. The presentation strongly suggests Scalp-Ear-Nipple syndrome (SENS), a genetic disorder linked to Potassium Channel Tetramerization Domain 1 (KCTD1) mutations. Chromosomal anomalies, such as Patau syndrome, were clinically and genetically excluded. While the lesion's extent and meningeal exposure could warrant surgical grafting according to some references, a review of the literature supports prioritizing conservative management to avoid severe anesthetic, hemorrhagic, and infectious risks in the neonatal period. This case highlights the importance of detailed clinical and familial evaluation to diagnose syndromic ACC when genetic sequencing is inaccessible. It also reaffirms that conservative management is a safe and effective alternative to surgery, even for extensive lesions with dural exposure.