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Novel CYLD pathogenic variant associated with multiple cylindromas of the scalp-A case report. | LitMetric

AI Article Synopsis

  • - Cylindromas are uncommon, non-cancerous tumors mostly found on the scalp and face, and they are more common in women, appearing usually in people in their 20s or 30s.
  • - These tumors can appear as either single or multiple nodules; multiple ones are often associated with mutations in the CYLD gene, especially in a condition called CYLD cutaneous syndrome.
  • - A case study is presented involving a 61-year-old man with multiple cylindromas on his scalp, which led to genetic testing and the discovery of a new harmful variant in the CYLD gene.

Article Abstract

Cylindromas are rare, benign adnexal neoplasms primarily found on the scalp and face, with a higher incidence in women and typically manifesting in the second or third decade of life. These tumours can present as single or multiple nodules, with the latter form often linked to CYLD gene mutations, particularly in the context of CYLD cutaneous syndrome. Here, we report a case of a 61-year-old male presenting with multiple cylindromas of the scalp, prompting genetic testing that revealed a novel pathogenic variant in the CYLD gene.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442051PMC
http://dx.doi.org/10.1002/ski2.436DOI Listing

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