Abstract
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.
Key message: Given the rarity of this understudied entity, the natural history and
the ultimate treatment remain unclear. We highlight the natural history and clinical
course of xanthoma disseminatum (XD) in this article. We also describe our experience
with cladribine in treating XD. We believe that similar experiences should be compiled
to better understand this pathology and the effective therapy options for these patients.
Keywords
Cladribine - histiocytosis - non-Langerhans
