Ophthalmic and Cutaneous Manifestation of Xeroderma Pigmentosum in a 21-Year-Old Man: A Case Report

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by a defect in DNA repair, leading to marked sensitivity to ultraviolet (UV) light, an increased risk of cutaneous malignancies, and frequent ophthalmic complications. We present a 21-year-old man with a history of bilateral ocular melanomas and evolving cutaneous lesions suspicious for malignancy. This report highlights the clinical features, histopathologic considerations, and multidisciplinary management challenges in XP, underscoring the importance of vigilant surveillance, early intervention, and interdisciplinary care.

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Publication Details

Journal
Cureus
Published
2025-06-13
DOI
https://doi.org/10.7759/cureus.85947
Primary Topic
DNA Repair Mechanisms
Type
article
Field-Weighted Citation Impact
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article

Ophthalmic and Cutaneous Manifestation of Xeroderma Pigmentosum in a 21-Year-Old Man: A Case Report

Stanley Skopit, Moises Lutwak
Cureus
DNA Repair Mechanisms
article

Ophthalmic and Cutaneous Manifestation of Xeroderma Pigmentosum in a 21-Year-Old Man: A Case Report

Stanley Skopit, Moises Lutwak
article en

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by a defect in DNA repair, leading to marked sensitivity to ultraviolet (UV) light, an increased risk of cutaneous malignancies, and frequent ophthalmic complications. We present a 21-year-old man with a history of bilateral ocular melanomas and evolving cutaneous lesions suspicious for malignancy. This report highlights the clinical features, histopathologic considerations, and multidisciplinary management challenges in XP, underscoring the importance of vigilant surveillance, early intervention, and interdisciplinary care.

CureusVol. 17(6)
Lake Erie College of Osteopathic Medicine (US), Larkin Community Hospital (US)
Zero hunger
Openalex Percentile: Top 88%
DNA Repair Mechanisms
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