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Published on: September 7, 2013
Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature
Farrah S Bakr1, Huseyin Arisoy1,2, Alan R Lehmann1,3
1UK National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Background:
Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA-repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one-third of patients. Emerging evidence suggests an increased risk of internal malignancies, particularly primary central nervous system (CNS) tumors.
Objective:
The aim of this work was to describe primary CNS tumors in patients with XP managed at the UK National XP Service and to review the literature.
Methods:
We retrospectively identified five genetically confirmed XP patients with primary CNS tumors followed longitudinally within the multidisciplinary UK National XP Service, including regular neurological evaluation.
Results:
Five patients (aged 20-79 years) developed primary CNS tumors: three XP-C and two XP-A. Tumors included gliomas, meningiomas, and subependymoma. CNS tumors occurred predominantly in younger patients with XP-C, whereas late-onset, slow-growing meningiomas were observed in milder XP-A phenotypes. One patient with XP-C died of glioblastoma.
Conclusions:
XP is associated with primary CNS tumor risk, particularly in XP-C and late-onset XP-A, supporting regular neurological assessment and targeted neuroimaging. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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