Xanthoma disseminatum: a rare normolipemic xanthomatosis

Abstract

Xanthoma disseminatum (XD) is a rare benign histiocytic disorder with extensive cutaneous and mucous membrane xanthomas in normolipemic patients. We describe the 9-year course of a 25-year-old white man who presented with multiple brownish-reddish papulous skin tumors that developed over 3 years and remained relatively constant, with spontaneous regression and progression of individual lesions since. In addition, there was asymptomatic xanthomatous infiltration of the epipharnyx and symptomatic infiltration of the synovial membrane of the left knee joint leading to restriction of movement. Histologically, the corium was infiltrated by large lipid-storing macrophages, polynucleated histiocytic giant cells of the Touton and the foreign body type. Immunhistochemically, the lipid-storing cells could be classified as macrophage/monocyte derived cells distinctly different from Langerhans' cells without proliferative activity. The clinical picture and course as well as laboratory findings indicating normolipidemia made it possible to differentiate XD from other normolipemic xanthomatosis, especially juvenile xanthogranuloma, eruptive histiocytoma, and histiocytosis X. The etiology of XD is still unknown. It is possible to differentiate xanthoma disseminatum from malignant histiocytosis X by the clinical picture and immunhistochemical studies. Thus it is no longer justified to administer cytostatic treatment for this disorder.

Treatment of Cutaneous Lesions of Xanthoma Disseminatum with a CO2 Laser

“…4 Its development is thought to be due to xanthomatous infiltration of the hypothalamic-pituitary axis. 14 Caputo et al,4 in their recent study of seven cases and review of the literature, proposed three clinical variants of XD according to their evolution and prognosis: (1) the extremely rare self-healing form wherein lesions undergo spontaneous resolution, (2) the more common persistent form wherein mucocutaneous lesions may persist indefinitely, and (3) the extremely rare progressive form wherein there is systemic involvement, including organ dysfunction or central nervous system involvement. 4 Cutaneous lesions may persist indefinitely, remain stable, or progress slowly, or lesions may spontaneously resolve over periods of up to 40 years.…”

Xanthoma Disseminatum In a Pair of Blind, Deaf Male Twins

“…Extensive meningeal involvement in the region of the sella and hypophysis is thought to be the cause of the frequent association with diabetes insipidus [3, 23–25]. Meningeal involvement may also lead to seizures, ataxia, ophthalmoplegia, and growth retardation [20, 26–29]. …”

A Case of Xanthoma Disseminatum Accentuating over the Eyelids

“…However, multiple papules accentuating in a coalesced presentation, particularly on the eyelids and eyelashes, screened her field of vision, and made it difficult for her to blink her eyes, because the papules on the eyelashes made her eyelashes stiffer. Unlike other types of xanthomatous disorders, patients with XD usually show normal lipid profiles 10 , but slightly elevated levels of serum cholesterol or triglyceride can be seen in a few patients 1 . Radiologic findings are usually nonspecific, except on a brain MRI when the XD has been associated with intracranial lesions 1 .…”