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Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission

Lookup NU author(s): Dr Majid Arefi, Dr Valerie Wilson, Dr Siobhan Muthiah, Dr Simon Zwolinski, Dr Dalvir Bajwa, Dr Paul Brennan, Dr David Bourn, Professor Sir John BurnORCiD, Dr Mauro Santibanez Koref, Professor Neil RajanORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Background: Clusters of rare cylindroma or spiradenoma tumors are a recurrent clinical presentation, yet conventional genetic testing in these individuals is frequently normal. Objective: To determine if genetic mosaicism accounts for such cases. Methods: A study of six cases from a series of 55 patients who met criteria for diagnostic gene testing for pathogenic CYLD variants over a 5-year period (2012-2017) was performed. A novel genetic assay was used to study DNA from peripheral blood leukocytes, and where possible, matched skin and tumor tissue. Results: Two patients had mosaic pathogenic CYLD variants in both blood and the skin. One of these patients transmitted a pathogenic variant to her daughter, and we report the novel phenotype of a contiguous gene deletion syndrome involving CYLD. Two patients had recurrent pathogenic variants in skin tumors from a single cluster, but none detectable in the blood. Limitations: The remaining two cases had clinical features of mosaicism, but were not solved using the assays employed, due to the lack of access of fresh tumor tissue. Conclusion: Genetic mosaicism should be considered in patients presenting with clustered cylindromas as this may inform genetic testing and counselling of these patients.

Publication metadata

Author(s): Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N

Publication type: Article

Publication status: Published

Journal: Journal of American Academy of Dermatology

Year: 2019

Volume: 81

Issue: 6

Pages: 1300-1307

Print publication date: 01/12/2019

Online publication date: 11/05/2019

Acceptance date: 07/05/2019

Date deposited: 18/07/2019

ISSN (print): 0190-9622

Publisher: Elsevier Inc.


DOI: 10.1016/j.jaad.2019.05.021


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Funder referenceFunder name
Wellcome Trust