A Case of Xanthoma Disseminatum with Spontaneous Resolution over 10 Years: Review of the Literature on Long-Term Follow-Up

Abstract

Xanthoma disseminatum (XD) is a rare and potentially progressive non-Langerhans-cell histiocytosis. To date, a few cases of XD with spontaneous complete resolution have been described. The present report describes a 16-year-old girl who presented with yellow to red-brown papules and nodules on her eyelids, cheeks, axillae, back and buttocks. Indirect laryngoscopy showed multiple xanthomatous plaques on the larynx, posterior pharynx, epiglottis, and vocal cords. Additional findings were polyuria, polydipsia, and amenorrhea. Skin biopsy and electron microscopy results confirmed the diagnosis of XD. The patient was treated with fenofibrate, simvastatin, desmopressin, and sex-hormone replacement therapy. Her skin lesions began to slowly fade 6 years after disease onset, eventually resolving spontaneously and completely, but leaving an atrophic scar, frank anetoderma, and persisting diabetes insipidus. This case report together with a review of the English-language literature on the long-term follow-up of XD patients provides additional information on the natural history of this disease.

Xanthoma disseminatum: improvement in disfiguring facial lesions with cladribine

“…Our hypothesis is supported by a previous similar report. 3 Though too early to comment, cladribine could emerge as a safe and effective treatment for xanthoma disseminatum. It remains to be seen how long the beneficial effect lasts and whether it is restricted to cutaneous manifestations alone.…”

Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview

“…Spontaneous improvement of brain lesions in NLH has been described [13], but it is not very likely in this case since there is a clear temporal relationship between the initiation of anakinra and the resolution of the contrast-enhancing lesions. In fact, our patient also exhibited a complete remission of cutaneous xanthomas under this systemic treatment.…”

“…In fact, the ECD [6,11,12], xanthogranuloma disseminatum [1,2,3,4,5,13] and juvenile xanthogranulomas [14] may have similar distributions in their CNS lesions. Finally, the XD diagnosis in the present patient is supported by the pattern of skin lesions and the absence of other symptoms/involvement as in the ECD.…”

Cladribine is a promising therapy for xanthoma disseminatum

“…These often initially appear in flexural sites such as the axillae. The lesions tend to have a symmetrical distribution over the body . Mucous membrane involvement occurs in 40–60% of patients.…”

“…XD has persistent, progressive and selflimiting forms, which are classified on the basis of disease progression and prognosis . Spontaneous resolution has also been reported in one‐third of patients over a period of 5–30 years …”