Xeroderma Pigmentosum with synchronous Squamous cell carcinoma and Basal cell carcinoma:- A case Report

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis due mutation in excision repair genes. It is characterized by marked photosensitivity, skin pigmentation, predisposition for development of malignant tumors and sometimes progressive neurological degeneration. Cutaneous tumors develop due to exposure to UV light. Here we report a case of a 23-year young female of known case of Xeroderma Pigmentosum presented with multiple hyperpigmented lesions on face, back and both forearm. On excisional and histopathological examination, tissue from back revealed Basal cell carcinoma(BCC) while tissue from left forearm revealed squamous cell carcinoma (SCC). XP is a rare genodermatosis with accumulation of unrepaired DNA damage due to defect in mismatch repair system. There are eight variants XP A-G and XP, with varying mutation in nucleotide excision repair. Exposed skin is particularly affected due to UV-radiation exposure. SCC, BCC and melanoma are common cutaneous tumors but simultaneous occurrence is rare. There are few case reports describing synchronous development of cutaneous and ocular SCC, cutaneous SCC, BCC and melanoma. Patient require frequent follow-up, self-examination and biopsy of any suspected lesion for early identification of malignancies.