Xanthoma disseminatum with extensive respiratory involvement effectively treated with cladribine: A case report

Xanthoma disseminatum (XD) is a rare and benign proliferative systemic disease that usually affects the skin and mucosal membranes with variable extent. Extensive systemic involvement can be associated with higher morbidity. There is paucity in the literature describing this rare pathological entity, and the ideal management remains controversial. In this article, we report our experience with cladribine in treating a case of XD. We documented the clinical and pathological manifestations of a 24-year-old woman who was initially diagnosed with rheumatoid arthritis. She presented to our institute with respiratory compromise and was found to have XD affecting skin, mucosal membranes, joints, and bone marrow. The patient received six cycles of cladribine for 6 months, during which she showed a remarkable response in relation to the respiratory lesions. Her hemoglobin also normalized and inflammatory markers gradually decreased to reach normal values. However, her skin lesions did not respond to treatment but no new lesions appeared. With our experience with cladribine, we believe that it could be a promising treatment option for XD. However, more work has to be conducted to determine the efficacy and safety in the long term.