Strict and consistent sun avoidance and protection and early detection and treatment of premalignant and malignant skin lesions are the mainstays of management. A definite diagnosis can be made by the identification of biallelic mutation in one of the causative genes. The diagnosis should be suspected in patients with increased photosensitivity and characteristic cutaneous, ophthalmological and neurological findings. Approximately 50% of patients with xeroderma pigmentosum have increased photosensitivity and certain types of xeroderma pigmentosum are more prone to ocular disease and progressive neurodegeneration depending on the causative mutation. Results: Xeroderma pigmentosum is a condition of abnormal DNA repair of ultraviolet radiation-induced and oxidative DNA damage, which leads to increased skin cancer susceptibility. The information retrieved from the search was used in the compilation of this article. The search strategy included all clinical trials, observational studies and reviews published within the past 10 years. Methods: A search was conducted in December 2021 in PubMed Clinical Queries using the key term “xeroderma pigmentosum”. This narrative review aims to familiarize physicians with the clinical features, diagnosis and management of xeroderma pigmentosum. Health case workers should be aware of the nature of the disease, protection of the patient from ultraviolet light as well as Frequent follow up of the patients for a better quality of life.īackground: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation. Oral angiokeratoma is a rare disease in patient with Xeroderma pigmentosum that should be early detected and diagnosed to decrease the liability for malignant transformation. The lesion was surgically excised while the histopathological examination of the lesion showed focally eroded and hyperplastic stratified squamous epithelial covering with underlying capillary sized blood vessel filled with RBCs and lined by endothelium with no atypia or malignancy. We present a case of 20 years old male with erythematous to violet, painless and shiny papule at the right side of the tongue. Detection of the intraoral benign and malignant lesion in Xeroderma pigmentosum is uncommon, and the reported few cases were in the lip and tip of the tongue which are related to ultraviolet light exposure. Xeroderma pigmentosum is an autosomal recessive genetic disorder with impaired ability to repair DNA damage.
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