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

Year: 2025

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.85947

Authors: Brian A Moreno, Moises Lutwak, Stanley Skopit

Institutions: Lake Erie College of Osteopathic Medicine, Larkin Community Hospital

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4411269163