A 3-year-old girl presented to the Eye Hospital, Blantyre, Malawi, with multiple ulcerating lesions on her face and in her eyes. Her skin was freckled, with hypopigmented and hyperpigmented areas (poikilodermia) typical of xeroderma pigmentosa. The tumors on the conjunctiva of the right eye and the lower eyelid of the left eye appeared to be squamous cell carcinomas. Chemotherapy with intravenous 5-flourouracil (1000 mg/m) for 5 days and cisplatin (50 mg/m) for 2 days for 3 cycles every 3 weeks was well tolerated. Good response occurred after 1 cycle and after 2 more courses the tumors had resolved.

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http://dx.doi.org/10.1097/MPH.0000000000000105DOI Listing

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Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by injury to the ocular surface due to exposure to ultraviolet (UV) radiation. UV-induced damage in the cells leads to the formation of cyclobutane pyrimidine dimers (CPDs) and 6-4 pyrimidine-pyrimidone photoproducts that are repaired by the NER (Nucleotide Excision Repair) pathway. Mutations in the genes coding for NER proteins, as reported in XP patients, would lead to sub-optimal damage repair resulting in clinical signs varying from photo-keratitis to cancerous lesions on the ocular surface.

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Head and neck cancers (HNCs) present a significant global health burden, especially in India, where oral cavity cancers, notably affecting the tongue, are prevalent. A substantial portion of global HNCs (57.5%) is concentrated in Asia, India contributing with 30%.

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Introduction: The study indicated that XPD and XPG gene polymorphism is associated with the development of oral potentially malignant disorders (OPMDs) and oral squamous cell carcinoma. Xeroderma pigmentosa (XP) is a part of the complex DNA repair system. Xeroderma pigmentosum group G (XPG) and xeroderma pigmentosum group D (XPD) gene function in the nucleotide excision repair (NER) pathway.

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