Case Report: Rothmund–Thomson Syndrome-Like Phenotype with ANAPC1 Variant and Hair Improvement

This case report describes a 29-year-old man with a Rothmund–Thomson syndrome-like phenotype, who exhibited lifelong sparse scalp hair and other symptoms, and was found to have a variant of uncertain significance in the ANAPC1 gene. After undergoing combination therapy, the patient showed increased hair density and shaft thickness after 6 months. Although this observation suggests a potential link between the ANAPC1 variant and hair improvement, it does not establish a definitive genotype–phenotype correlation. The case highlights the potential benefits of symptomatic management in complex genodermatoses, despite the lack of a confirmed molecular diagnosis, and calls for further research to validate the pathogenicity of the ANAPC1 variant.