Case Report: Rothmund–Thomson Syndrome-Like Phenotype with ANAPC1 Variant and Hair Improvement
May 2026
in “
Frontiers in Medicine
”
Studysummary This study describes a patient with Rothmund–Thomson syndrome-like symptoms who displayed hair improvement after combination therapy, despite carrying an ANAPC1 gene variant of uncertain significance.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
