Objective:

To present a case of a patient with a Rothmund–Thomson syndrome-like phenotype and an ANAPC1 variant of uncertain significance, highlighting treatment outcomes and the implications of the variant.

Key Findings:

• The patient exhibited a Rothmund–Thomson syndrome-like phenotype without RECQL4 mutations.
• A heterozygous ANAPC1 variant of uncertain significance was identified, warranting further investigation.
• Significant improvement in hair density and thickness was observed after treatment, suggesting potential therapeutic avenues.

Interpretation:

The findings suggest a potential broadening of the phenotypic spectrum associated with ANAPC1, though the pathogenicity of the variant remains unverified and requires further research.

Limitations:

• The ANAPC1 variant's pathogenic nature is uncertain and requires further validation.
• The study is based on a single case, limiting generalizability and potential biases.

Conclusion:

Symptomatic treatment can be beneficial in complex genodermatoses, even when a definitive molecular diagnosis is not established, highlighting the need for further studies.