Table 2.

Features of CYLD Cutaneous Syndrome

Feature 1# of Persons w/FeatureComment
Phenotype of predominantly
cylindromas/spiradenomas		14/26 (∼54%)
Phenotype of predominantly trichoepitheliomas8/26 (∼30%)
Phenotype of mixed cylindroma/spiradenoma/
trichoepithelioma		4/26 (∼15%)
Severe phenotype
necessitating
complete scalp excision		6/26 (∼23%)In a further study of a Hungarian pedigree, 2 5/21 individuals w/a germline pathogenic CYLD variant had this severe phenotype.
Salivary gland tumors~5%
Pulmonary cylindromas3 persons 3May result in respiratory compromise if lesion affects the large airways

Except where otherwise noted, the table summarizes a single study by Rajan et al [2009a], which analyzed the clinical features of 26 individuals with germline pathogenic CYLD variants.

1.

While by definition most individuals with CYLD cutaneous syndrome will be affected by one of more of the characteristic tumors, precise detail about frequency of the clinical features is lacking in most published studies.

2.
3.

From: CYLD Cutaneous Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2025.
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2025 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.