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

**Authors:** Brian A Moreno, Moises Lutwak, Stanley Skopit

PMC · DOI: 10.7759/cureus.85947 · Cureus · 2025-06-13

## TL;DR

This case report describes a 21-year-old man with xeroderma pigmentosum, a rare genetic disorder causing extreme sensitivity to UV light and skin and eye cancers.

## Contribution

The report emphasizes the need for vigilant surveillance and interdisciplinary care in managing XP.

## Key findings

- The patient had a history of bilateral ocular melanomas and suspicious cutaneous lesions.
- XP requires multidisciplinary management due to its complex clinical features and complications.

## 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.

## Linked entities

- **Diseases:** xeroderma pigmentosum (MONDO:0019600)

## Full-text entities

- **Diseases:** cutaneous lesions (MESH:D009059), ocular melanomas (MESH:D008545), malignancy (MESH:D009369), cutaneous malignancies (MESH:C562393), autosomal recessive disorder (MESH:D030342), XP (MESH:D014983)

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12256118/full.md

## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC12256118/full.md

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Source: https://tomesphere.com/paper/PMC12256118