Scalp-Ear-Nipple Syndrome (SEN) in Pediatric Patients With Multiple Co-morbidities: A Case Report

Abstract

Scalp-Ear-Nipple syndrome (SEN), or Finlay-Marks syndrome, is an exceedingly rare congenital disorder characterized by scalp aplasia, auricular malformations, and nipple hypoplasia or absence. Fewer than 100 cases have been described, and phenotypic variability complicates diagnosis and management. Two male neonates presented with large aplasia cutis congenita (ACC) defects and variable phenotypic features. The first patient, born at 37 weeks, exhibited the classic triad of occipital ACC, bilateral cupped ears, and athelia, along with PDA and left upper eyelid coloboma. Genetic testing identified a pathogenic KCTD1 mutation and a 47, XXY karyotype consistent with Klinefelter syndrome. The second patient, born at term, had an isolated midline scalp defect with distal limb anomalies including hallux hypoplasia and nail dysplasia. Genetic testing for Adams-Oliver syndrome and SEN-associated genes was negative. Both patients underwent staged reconstructive strategies using biologic allografts and Integra Dermal Regeneration Template to promote epithelialization and soft tissue coverage. Reconstruction was coordinated through a multidisciplinary craniofacial team. Patients showed progressive epithelialization and calvarial regeneration with normal neurodevelopment, and stable wound healing with age-appropriate neurologic development throughout follow-up. This case series highlights phenotypic variability in SEN syndrome, including a novel co-occurrence with Klinefelter syndrome. Early recognition, genetic evaluation, and staged reconstruction are essential to optimize outcomes in patients with syndromic ACC.