Genetic and Embryological Basis of Congenital Cervicofacial Dermatological Markers in Neonates

Abstract

Background: In neonates, multiple congenital skin lesions in the cervicofacial region act as "surface markers" of vascular, malformation, or syndromic anomalies with impact on the airway, hearing, and deep cervical structures, core areas of otorhinolaryngology. Objective: To synthesize recent evidence on cervicofacial congenital dermatological manifestations relevant to ENT, proposing a diagnostic approach and providing a quantitative synthesis of recent clinical series. Methodology: Rapid review (2021–2025) in biomedical sources, with a report aligned with PRISMA 2020 (publication 2021). Reviews, guidelines, surgical series, and retrospective studies with the pediatric population (neonatal/early childhood emphasis) and cervicofacial location were included. Clinical variables, ENT "red flags", and quantitative indicators (proportions and 95% CI by Wilson) were extracted. Results: The evidence converges on four groups of high ENT relevance: (1) vascular anomalies (infantile hemangioma, capillary and lymphatic malformations), (2) lateral skin pits/sinuses of the neck (gill anomalies), (3) congenital hamartomas/nevi (melanocytic and epidermal) with syndromic potential, and (4) skin/tissue defects (aplasia cutis). In a cohort of head and neck lymphatic malformation (n=94), the excellent/good response was 80.9% (95% CI 71.7–87.5) and frequent sites were reported (head 63.8%; neck 43.6%; non-exclusive categories). In a series of second-arch gill anomalies (n=52), 67.3% had cutaneous fossite or lateral drainage from birth. Conclusions: For ENT, cervicofacial dermatological inspection in the neonate guides risk of airway compromise, need for imaging, screenings (e.g., glaucoma/neurology in high-risk facial capillary malformations), and early referral to vascular anomaly teams.