Enamel pits and enamel developmental defects in tuberous sclerosis complex: A descriptive synthesis and pooled prevalence analysis.

Abstract

Background: Enamel pits and enamel developmental defects have been reported in patients with tuberous sclerosis complex (TSC), but prevalence estimates and phenotypic descriptions vary widely. A standardized synthesis has been lacking. Recent updates in TSC clinical reviews and dermatologic-dental guidelines highlight the diagnostic relevance of subtle oral findings, underscoring the need for an updated synthesis.

Material and methods: A systematic review with quantitative integration was conducted in accordance with PRISMA 2020 guidelines. Electronic databases were searched from inception to March 2026. Eligible studies reporting enamel pits or enamel developmental defects in TSC were reviewed, and pooled prevalence was calculated using a random‑effects model. Meta‑analytic procedures, including Forest and funnel plot generation, were performed using EZR (version 1.7). Heterogeneity was assessed using the I² statistic, and subgroup analyses explored sources of variability. A phenotype‑oriented classification system was developed based on recurring enamel features. Representative clinical cases were included only as qualitative supplementary material. Recent literature on TSC diagnostic criteria and enamel defects in systemic or dermatologic conditions was additionally incorporated to contextualize methodological variability.

Results: Seven studies involving 217 patients were included. Enamel pits and related defects were frequently reported. The pooled prevalence of enamel pits was 66%, with substantial heterogeneity (I²=77%). Individual estimates ranged from 0% in deciduous dentition to 100% in studies using staining or SEM. Funnel plot asymmetry suggested potential publication bias and small‑study effects. Variability was partly associated with dentition type, age, diagnostic criteria, and assessment methods. These findings align with contemporary evidence emphasizing that enamel abnormalities may be under‑recognized depending on examination methods and clinical context.

Conclusions: This review synthesizes current evidence on enamel abnormalities in TSC and highlights considerable variability in reported prevalence. The proposed phenotype‑oriented classification provides a pragmatic descriptive framework, but findings should be interpreted cautiously due to methodological heterogeneity. Contemporary literature supports the diagnostic relevance of enamel pits as a recognized minor feature of TSC, reinforcing the need for standardized assessment.