Xeroderma pigmentosum: an updated review

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Background: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation. This narrative review aims to familiarize physicians with the clinical features, diagnosis and management of xeroderma pigmentosum.

Methods: A search was conducted in December 2021 in PubMed Clinical Queries using the key term “xeroderma pigmentosum”. The search strategy included all clinical trials, observational studies and reviews published within the past 10 years. The information retrieved from the search was used in the compilation of this article.

Results: Xeroderma pigmentosum is a condition of abnormal DNA repair of ultraviolet radiation-induced and oxidative DNA damage, which leads to increased skin cancer susceptibility. Approximately 50% of patients with xeroderma pigmentosum have increased photosensitivity and certain types of xeroderma pigmentosum are more prone to ocular disease and progressive neurodegeneration depending on the causative mutation. The diagnosis should be suspected in patients with increased photosensitivity and characteristic cutaneous, ophthalmological and neurological findings. A definite diagnosis can be made by the identification of biallelic mutation in one of the causative genes. Strict and consistent sun avoidance and protection and early detection and treatment of premalignant and malignant skin lesions are the mainstays of management. Treatment options for actinic keratosis include cryotherapy, topical imiquimod, topical 5-fluorouracil, chemical peeling, excision, CO2 laser resurfacing, fractional/pulsed laser therapy, and photodynamic therapy. Cutaneous malignancy can be treated by photodynamic therapy, curettage and electrodesiccation, or surgical excision. Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil can be used for the prevention of skin malignancy. Treatment options for poikiloderma include chemical peeling, dermabrasion and laser resurfacing. Methylcellulose eyedrops and soft ultraviolet-protective contact lenses may be used to keep the cornea moist and protect against the harmful effects of keratitis sicca. Investigational therapies include the use of T4 endonuclease-V liposome lotion and oral nicotinamide to reduce the rate of actinic keratoses and non-melanoma skin cancers and gene therapy for radical cure of this condition.

Conclusion: Although currently there is no cure for xeroderma pigmentosum, increased awareness and early diagnosis of the condition, followed by rigorous sun avoidance and protection and optimal management, can dramatically improve the quality of life and life expectancy.

Keywords: conjunctival injection, conjunctival neovascularization, neurodegeneration, photophobia, poikiloderma, skin cancers, xeroderma pigmentosum.

Citation: Leung AKC, Barankin B, Lam JM, Leong KF, Hon KL. Xeroderma pigmentosum: an updated review. Drugs Context. 2022;11:2022-2-5. https://doi.org/10.7573/dic.2022-2-5

Contributions: AKCL is the principal author. BB, JML, KFL and KLH are coauthors who contributed and helped with the drafting of this manuscript. All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, take responsibility for the integrity of the work and have given their approval for this version to be published.

Disclosure and potential conflicts of interest: AKCL and KLH are associate editors of Drugs in Context and confirm that this article has no other conflicts of interest otherwise. This manuscript was sent out for independent peer review. The International Committee of Medical Journal Editors (ICMJE) Potential Conflicts of Interests form for the authors is available for download at: https://www.drugsincontext.com/wp-content/uploads/2022/04/dic.2022-2-5-COI.pdf

Acknowledgements: None.

Funding declaration: There was no funding associated with the preparation of this article.

Copyright: Copyright © 2022 Leung AKC, Barankin B, Lam JM, Leong KF, Hon KL. Published by Drugs in Context under Creative Commons License Deed CC BY NC ND 4.0, which allows anyone to copy, distribute and transmit the article provided it is properly attributed in the manner specified below. No commercial use without permission.

Correct attribution: Copyright © 2022 Leung AKC, Barankin B, Lam JM, Leong KF, Hon KL. https://doi.org/10.7573/dic.2022-2-5. Published by Drugs in Context under Creative Commons License Deed CC BY NC ND 4.0.

Article URL: https://www.drugsincontext.com/xeroderma-pigmentosum:-an-updated-review

Correspondence: Alexander KC Leung, The University of Calgary, The Alberta Children’s Hospital, #200, 233 – 16th Avenue NW, Calgary, Alberta, Canada T2M 0H5. Email: aleung@ucalgary.ca

Provenance: Invited; externally peer reviewed.

Submitted: 16 February 2022; Accepted: 15 March 2022; Publication date: 25 April 2022.

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