Xeroderma pigmentosum with tongue cancer and neurological manifestations in a 5-year-old child: a case report
Xeroderma pigmentosum with tongue cancer and neurological manifestations in a 5-year-old child: a case report
Keywords:
neurological involvement, squamous cell carcinoma, tongue cancer, xeroderma pigmentosumAbstract
ABSTRACT: Xeroderma pigmentosum is an extremely rare inherited disorder caused by a nucleotide excision repair (NER) defect leading to defective DNA repair after UV radiation-induced DNA damage. The condition is associated with increased risk of cutaneous malignancies, and the manifestations vary across different complementation groups of the disease. Neurologic abnormalities are more frequent in complementation group A, whereas group C has the highest incidence of oral cavity cancer. We describe a case of xeroderma pigmentosum where a 5-year-old child presented with squamous cell carcinoma of tongue and skin, together with neurological and ocular involvement, a constellation of clinical features which has never been reported so early in childhood.
