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March 18, 2026The Journal of Dermatology

A Familial Case of CYLD Cutaneous Syndrome With a Novel Nonsense Mutation in Japanese

Akihiko Uchiyama Yoko Yokoyama Akiko Sekiguchi Yayoi Shibusawa Sei‐ichiro Motegi

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Key Points

The aim is to identify the genetic mutation responsible for cyld cutaneous syndrome in a familial case.
Genetic analysis of affected family members
Identification of mutations in the CYLD gene
Comparison with known mutations
Discovery of a novel nonsense mutation in the CYLD gene
Confirmation of the familial nature of cyld cutaneous syndrome
Association of the mutation with disease symptoms

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Implication

Case study reports a novel mutation in familial cyld cutaneous syndrome, indicating the genetic basis of the disorder.

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Cite This Study

Uchiyama et al. (2026) studied this question.

synapsesocial.com/papers/69be36086e48c4981c674a4c https://doi.org/10.1111/1346-8138.70224

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