Xeroderma pigmentosum: a Turkish case series

Abstract

Background: Xeroderma pigmentosum (XP) is a rare, autosomal recessive genodermatosis in which affected individuals exhibit sun sensitivity, cutaneous pigment abnormalities, and a high incidence of skin cancers of sun-exposed skin.

Methods: We studied the clinical features of 12 XP patients from Turkey, who were followed for 5 years.

Results: Consanguinity was confirmed in 10 cases. The onset of hyperpigmented macules and photosensitivity was between the ages of 6 months and 5 years (average age, 25 months). The first appearance of cutaneous tumors was at 3-28 years of age (average age, 12 years). In nine of the 12 patients, cutaneous malignancies were confirmed histopathologically, and all nine were squamous cell carcinomas. One patient developed both squamous cell carcinoma and malignant melanoma.

Conclusions: This study presents the epidemiological and clinical features of Turkish XP patients. We believe this study will provide new data for further studies in the future.