SKIN CANCERS IN VIETNAMESE XERODERMA PIGMENTOSUM PATIENTS

Abstract

Objective: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defects in DNA repair, leading to severe photosensitivity and significantly increased risk of skin cancer. This study aimed to investigate the clinical features and characteristics of skin cancers in newly diagnosed XP patients in Vietnam from 2018 to 2022, with the goal of improving diagnosis and management.

Methods: We conducted a descriptive cross-sectional study on 36 newly diagnosed XP patients. Diagnosis was based on medical history and clinical examination. Data on the presence of skin cancers, including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), were collected and analyzed.

Results: Among the 36 patients, 8 (22.22%) had one or more skin cancers. Six patients had BCCs, and two had SCCs. The mean age at first BCC appearance was 44 ± 18.72 years. One patient presented with multiple BCCs (3 lesions). All BCC cases were treated surgically with good outcomes. The highest number of SCCs (4 lesions) was observed in a 55-year-old man, who also had 20 actinic keratoses (AKs). All patients with BCC or SCC had concurrent AKs. A 16-year-old male, who developed skin cancer at age 9, died due to a giant tumor on his head, representing the youngest case of skin cancer in this cohort.

Conclusion: Early diagnosis and management of XP, including sun protection and regular monitoring for skin cancers, are essential for improving patient outcomes. The findings from this study contribute to the development of practical guidelines for diagnosing and managing XP in Vietnam.

Received 15 June 2024
Revised 06 July 2024
Accepted 18 October 2024