Malignancies in xeroderma pigmentosum — case report and literature review

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by inappropriate repair of UV-induced damages. It occurs with frequency of 1–4 per 1 million. The main symptoms are connected with skin, eyes and nervous system. Skin changes are the most important and they reveal as erythema, painful blisters, ulceration and freckles. The last level of skin changes’ transformation are malignant neoplasms (squamous cell carcinoma, basal cell carcinoma and melanoma). The case of 15-year-old girl with xeroderma pigmentosum and face’s ulcerations is presented. This lesion has been found as basal cell carcinoma. Basal cell carcinoma concerns occasionally children and young adults. In this cases there is usually association with other diseases. Because of the risk of tissue destruction and local recurrence there is quite important to diagnose and remove it early.