American Journal of Pathology & Research
Open AccessXeroderma Pigmentosum Complicated by Squamous Cell Carcinoma of the Base of the Tongue: A Case Report from the University Clinics of Lubumbashi
Authors: Pierre Kitha, Didier Munganga, Mika Mulewa, Florent Zeng, Didier Mwenze, Veronique Cathy Kyabu, Mamy NKumuyaya, Lydia Mwelwa, Maryel Ragi Lya Lushule, Robert Lukamba.
Abstract
Xeroderma pigmentosum (XP) is a rare disease characterized by a defect in the repair of UV-induced damage. It is marked by photosensitivity with a tendency to develop skin burns after minimal sun exposure, early freckles, and the development of lentiginous pigmentation, as well as other features of poikiloderma and a predisposition to developing skin cancer at an early age. We report the case of a 10-year-old schoolboy, born to non-consanguineous parents, with a history of photophobia beginning at the age of 2. He presented to the pediatric oncology department of the University Clinics of Lubumbashi with an asymptomatic growth on the tongue that had been progressively enlarging for 3 years. The persistent increase in size and difficulty eating prompted the consultation. A diagnosis of xeroderma pigmentosum (XP) complicated by poorly differentiated squamous cell carcinoma of the base of the tongue, without metastasis, was established. The family’s socioeconomic situation and the unavailability of radiotherapy in Lubumbashi did not allow for adequate management of the tumor. A palliative excision of the mass was proposed, but the patient left the hospital against medical advice.
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