Genetic syndromes in paediatric alopecia areata: a systematic review

This systematic review identifies 33 genetic syndromes associated with paediatric alopecia areata (AA), highlighting the phenotypic variation in affected children. The study screened 1,426 studies and included 64 that met the criteria, revealing that 67% of the syndromes are fully genetically elucidated, while others are partially or not elucidated. Prevalence estimates show that 45% of these syndromes occur in fewer than 1 in 1,000,000 individuals. The review emphasizes the importance of understanding these syndromes for early prediction, diagnosis, and personalized treatment, despite the limited knowledge and the fact that most syndromes were described in only one report.