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

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.

Cladribine Use in Xanthoma Disseminatum: A Rare Case Presentation and Brief Updated Literature Review

“…Thus far, cladribine use for XD has been described in 23 patients across 10 case reports and three case series [3][4][5][6]8,[11][12][13][14][15][16][17][18]. On review, patients were largely treated with 3-10 cycles of cladribine at a standard dose of 0.14 mg/kg/day for five days per month, with the exception of one pediatric patient [3] dosed according to body surface area.…”

“…On review, patients were largely treated with 3-10 cycles of cladribine at a standard dose of 0.14 mg/kg/day for five days per month, with the exception of one pediatric patient [ 3 ] dosed according to body surface area. All but one patient [ 6 ] experienced marked cutaneous and mucosal response, with some experiencing complete, long-standing remission up to eight years post-completion [ 4 ]. Though 10 of the 23 patients were reported to have concomitant DI [ 3 - 5 , 11 , 13 ], only one patient was reported to have improvement after treatment [ 11 ].…”

“…Xanthoma disseminatum (XD) is a rare, non-Langerhans cell histiocytosis characteristically presenting as a symmetric eruption of red-brown to yellow cutaneous papules that coalesce into larger plaques [1,2]. Mucosal involvement and concomitant diabetes insipidus (DI) are common; respiratory and central nervous system involvement has also been reported [1][2][3][4][5][6]. Histopathologically, XD presents with diffuse histiocytic infiltration of the dermis with Touton giant cells [2,7,8].…”

Topical simvastatin ointment improves xanthoma disseminatum lesions

“…4 Available reports show inconsistencies in the outcomes of disease management among different patients, including, but not limited to, oral antimitotic drugs, corticosteroids, and lipid-lowering drugs. 5,6 Herein, we report our findings in treating two patients with XD with topical simvastatin ointment.…”