Case Report of Xeroderma Pigmentosum

Author : Entela Shkodrani , Alert Xhaja , Barbara Shkodrani

Abstract :Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease which occurs due to an abnormality of nucleotide excision repair caused by a mutation to any of eight genes (XPA-G and XPV). Epithelial neoplasms, severe ocular involvement, and neurological degeneration are some of the clinical manifestations of this disease. One of the most common malignancies is Squamous Cell Carcinoma. Case Report: We report a case of a 80 years old patient which was admitted at the dermatologic department presenting a large hemorrhagic nodule in the shoulder and three ulcerated skin lesions located at the face and neck. He also presented freckles, telengiactesia, xerosis, actinic keratosis, erythema and lentiginous macules all over the body. The patient had ocular invasive SCC ten years ago, which was resolved by surgery, and a large hypotrophic scar in the lower back due to a massive SCC.

Keywords :Xeroderma Pigmentosum, Squamous Cell Carcinoma, Genetic Mutation, Skin Lesions, Case Report

Conference Name :International Conference on Dermatology and Cosmetology Conference (ICDECOCO-25)

Conference Place Hanoi, Vietnam

Conference Date 1st May 2025