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Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series

Unusual or unexpected effect of treatment, Rare disease

Qais S. Dirar, Hebah M. Musalem, Selwa A.F. Al-Hazzaa, Abdulaziz A. Al Zoba, Amal A. Almalki

College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Am J Case Rep 2020; 21:e921301

DOI: 10.12659/AJCR.921301

Available online: 2020-02-18

Published: 2020-04-06

BACKGROUND: Xeroderma pigmentosum (XP) is an autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations include extreme sensitivity to ultraviolet (UV) rays, freckle-like pigmentation, ocular abnormalities, and an increased risk of developing neoplasms in sun-exposed areas of the skin, mucous membranes, and eyes. This paper describes the clinical outcome of pegylated interferon alpha 2b (PEG-IFN-alpha-2b) subconjunctival injections and topical mitomycin C (MMC) in the treatment of ocular surface squamous neoplasia (OSSN) in patients with XP.
CASE REPORT: A series of 3 patients with histopathologically-proven biopsy specimens of XP-associated neoplasia of the eyelids and ocular surface underwent subconjunctival injections of PEG-IFN-alpha-2 band topical cycles of MMC. There was a noticeable decrease in the size and severity of ocular surface squamous neoplasia, with minimal adverse effects of flu-like symptoms with mild fever and generalized malaise. Transient mental depression was reported in 2 of our patients, and only 1 patient developed autoimmune diabetes mellitus, which required insulin therapy after the discontinuation of the PEG-IFN-alpha-2b.
CONCLUSIONS: The literature on the specifics of ocular care using PEG-IFN-alpha-2b for XP-associated OSSN is sparse. However, according to our clinical experience, the combination of PEG-IFN-alpha-2b subconjunctival injection and the topical cycles of MMC is a promising long-term medical therapy to minimize the development and recurrence of OSSN in XP patients.

Keywords: DNA, Neoplasm, Interferon-alpha, Mitomycin, Xeroderma Pigmentosum