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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, Jamie Burn, Dr Mauro Santibanez Koref, Dr Neil Rajan

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


Abstract

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: JAAD

Year: 2019

Issue: ePub ahead of Print

Online publication date: 11/05/2019

Acceptance date: 07/05/2019

Date deposited: 18/07/2019

ISSN (electronic): 2352-5126

Publisher: Elsevier BV

URL: https://doi.org/10.1016/j.jaad.2019.05.021

DOI: 10.1016/j.jaad.2019.05.021


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