Moreno Brian A, Lutwak Moises, Skopit Stanley
Dermatology, Lake Erie College of Osteopathic Medicine, Bradenton, USA.
Dermatology, Larkin Community Hospital, South Miami, USA.
Cureus. 2025 Jun 13;17(6):e85947. doi: 10.7759/cureus.85947. eCollection 2025 Jun.
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.
着色性干皮病（XP）是一种罕见的常染色体隐性疾病，其特征是DNA修复缺陷，导致对紫外线（UV）高度敏感、皮肤恶性肿瘤风险增加以及频繁出现眼部并发症。我们报告一名21岁男性，有双侧眼部黑色素瘤病史，且皮肤病变不断演变，怀疑为恶性肿瘤。本报告强调了XP的临床特征、组织病理学考量以及多学科管理挑战，突出了警惕性监测、早期干预和跨学科护理的重要性。
