Cladribine is a promising therapy for xanthoma disseminatum

Abstract

Xanthoma disseminatum (XD) is a rare, nonLangerhans cell histiocytosis characterized by multiple red to brown papules and nodules involving the skin and mucosal membranes.1,2 XD is very rare, with approximately 100 cases reported in the literature. 2-5The onset of XD ranges from as early as 8 months to as late as 85 years, 3 and is commonest in young adult men, with a male : female ratio of 2.4 : 1.4 XD appears to occur sporadically, with no known hereditary factors identified.2,4 XD is a disease with a chronic and progressive course. It presents a therapeutic challenge. We present a patient with the typical clinical and histological features of XD who was successfully treated with cladribine.A 19-year-old woman presented an 8-year history of an asymptomatic eruption, which had first appeared slowly on the anterior surface of the chest, and then progressed to involve the face, neck, arms and other flexural surfaces. Her medical history was otherwise unremarkable.Physical examination revealed yellow to red-brown coloured papules and nodules on the patient's face, neck and shoulder, the anterior and posterior surface of her chest, and the mucosal surfaces, along with verrucous tumours on the flexural surfaces of the inguinal area, popliteal fossae and axillary folds (Fig. 1a).Laboratory investigations, including full blood count, erythrocyte sedimentation rate, levels of C-reactive protein, urea and electrolytes, lipid profile, protein electrophoresis, urinalysis, 24-hour urine protein test, and chest radiography were all normal.Biopsies taken from the oral mucosa, anterior surface of the chest and inguinal region showed histopathological changes characteristic of XD (Fig. 2), thus the diagnosis of XD was made.We treated the patient with cladribine (2-chlorodeoxyadenosine) 0.14 mg/kg/day for 5 days each week, repeated every month. 4 After 7 months of treatment, many of the papular lesions had disappeared, leaving slightly hyperpigmented macules, but the rapid flattening process that took place in flexural areas resulted in an appearance of the loose skin (Fig. 1b). Cladribine therapy was well-tolerated, with few adverse effects. No new lesions developed during 2 years of follow-up.XD is characterized by multiple, asymptomatic, yellowish or red to brown papules, nodules and tumours. These often initially appear in flexural sites such as the axillae. The lesions tend to have a symmetrical

A Case of Xanthoma Disseminatum in a Progressive Form With Bladder Involvement Effectively Treated With 2-Chlorodeoxyadenosine

“…Although XD is generally considered a benign disease, in extremely rare progressive forms, mechanical mucosal complications and progressive organ dysfunction can cause significant morbidity and mortality [ 2 ]. Many treatments including steroids, azathioprine, cyclophosphamide, electrocoagulation, or surgical excision, have been tried in XD, but recently the most satisfactory results have been obtained with 2-chlorodeoxyadenosine [ 5 , 6 ].…”

Central Nervous System Xanthoma Disseminatum: Response to 2CdA in an Adolescent

“…A 23-year-old patient was treated with eight cycles of 2CdA for cutaneous XD and central diabetes insipidus, with significant improvement of his cutaneous XD after 2CdA therapy [21]. A 19-year-old patient was treated for cutaneous XD with seven courses of 2CdA, and no new lesions had developed at two years of follow-up [22]. A 55-year-old patient with cutaneous and laryngopharyngeal XD demonstrated resolution of his laryngopharyngeal lesions after only three cycles of 2CdA [23].…”

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

“…Immunostaining is usually positive for CD68 and negative for S100. [1,5,10] Many treatment options for XD have been described, yet the ultimate treatment remains unclear. Adışen el al.…”

“…Adışen el al. [10] documented their experience with cladribine (0.14 mg/ kg/day for 5 days each week, repeated every month for 7 months). The treatment was well tolerated by the patient, and the skin lesions flattened.…”

“…No new lesions appeared in the 2 years of follow-up. [10] In a case report and literature review by Campero et al, various immunosuppressing agents were described with various responses. The only protocols that were effective causing complete or partial remission were vinblastine (32 cycles), cyclophosphamide, high-dose chemotherapy (carmustine, etoposide, cytarabine, and melphalan) with matched unrelated donor bone marrow transplantation, doxycycline, rosiglitazone, simvastatin, acipimox, 5-8 cycles of cladribine, cyclosporine and doxycycline, corticosteroids 1 mg/kg/day and thalidomide 100 mg/day, and anakinra (interleukin-1 receptor antagonist).…”