Novel CYLD pathogenic variant associated with multiple cylindromas of the scalp—A case report

Autor: Inês P. Amaral, Ivânia Soares, Madalena P. Correia, Catarina Correia, Pedro Vasconcelos, Luis S. Almeida, Paulo Filipe
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Skin Health and Disease, Vol 4, Iss 5, Pp n/a-n/a (2024)
Druh dokumentu: article
ISSN: 2690-442X
DOI: 10.1002/ski2.436
Popis: 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.
Databáze: Directory of Open Access Journals