XERODERMA PIGMENTOSUM AND ESOPHAGEAL ADENOCARCINOMA IN A CHILD: A CASE REPORT

Malignant tumors of the esophagus in children are exceptional, accounting for less than 0.5% of pediatric cancers. Xeroderma Pigmentosum (XP) is a rare genodermatosis characterized by a deficiency in the DNA repair system, primarily predisposing to skin cancers. We report the case of an 11-year-old child, born to consanguineous parents, diagnosed with Xeroderma Pigmentosum at the age of 4 years, who presented with rapidly progressive dysphagia. Investigations revealed a moderately differentiated adenocarcinoma of the thoracic esophagus, classified as T4bN3M0, with significant locoregional invasion. The outcome was fatal due to respiratory distress from tracheal invasion. This case illustrates the rarity of the XP-esophageal adenocarcinoma association in children and raises important pathophysiological questions regarding the risk of internal tumors in this population. Genetic counseling was offered to the siblings.