Xanthoma Disseminatum: From benign to fatal - A rare case report

Xanthoma Disseminatum (XD) is a cutaneous Non-Langerhans Cell Histiocytosis (Non-LCH) with major systemic involvement and belongs to the Juvenile Xanthogranuloma (JXG) family. A 9-year-old boy presented with progressively erupting nodular skin lesions since 6 years of age. Despite spontaneous involution of some lesions, the disease progressed over time to involve oral cavity, oesophagus, nasopharynx and bronchial mucosa, resulting in dysphagia, respiratory distress and failure to thrive. Histological examination of skin lesions was suggestive of XD. On treatment with vinblastine and steroid-based chemotherapy, he showed improvement with dryness and shedding of the lesions. However, he developed respiratory decompensation following bronchial obstruction by the shredded mucosal lesions, and succumbed to the disease. Xanthoma Disseminatum worsens with time and may be fatal. Only in some cases does it resolve spontaneously, which emphasizes the significance of effective treatment.