Xanthoma disseminatum with progressive involvement of the central nervous and hepatobiliary systems

Knobler, Robert; Neumann, R.; Gebhart, W.; Radaskiewicz, Th.; Ferenci, Péter; Widhalm, K.

doi:10.1016/0190-9622(90)70218-7

Cited by 49 publications

(42 citation statements)

References 7 publications

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“…Reported cases of XD usually follow a chronic course which lasts for years or decades [2,7,10,22,24]. Skin lesions usually reach a peak of severity after 1-2 years.…”

Section: Discussionmentioning

confidence: 99%

Xanthoma disseminatum: a rare normolipemic xanthomatosis

Weiss¹,

Keller²

1993

Clin Investig

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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.

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“…Reported cases of XD usually follow a chronic course which lasts for years or decades [2,7,10,22,24]. Skin lesions usually reach a peak of severity after 1-2 years.…”

Section: Discussionmentioning

confidence: 99%

Xanthoma disseminatum: a rare normolipemic xanthomatosis

Weiss¹,

Keller²

1993

Clin Investig

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“…Low-fat diet [3,8], surgical excision [3,4,20], electrocoagulation [20], cryotherapy [8], radiation [3,21], glucocorticoids [22,23,24], anti-metabolites [21,24], anti-cancer drugs [4], lipid-lowering agents [4,17,25], or combinations of these therapies have been tried. However, most XD patients do not respond to any form of therapy and their disease either remains stable or becomes progressive.…”

Section: Discussionmentioning

confidence: 99%

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

Park¹,

Joe²,

Kang³

et al. 2011

Dermatology

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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.

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“…XD usually is a self-limiting and benign disorder [3], but a patient with similar skin lesions, diabetes insipidus and multiple cerebral lesions [2] died 4 years after developing disseminated CNS symptoms. As therapy is similar to MS, but not identical, patients with MS and a hypothalamic syndrome should be evaluated for histiocytosis.…”

mentioning

confidence: 99%

“…Our patient's prednisolone dependency also appeared untypical for MS. Autopsy eventually revealed that our patient had suffered from MS and XD. This hardly is a chance association, taken the rarity of cerebral histiocytosis and the frequency of reported concurrent disseminated encephalomyelopathies, relapsing [2,6] or demyelinating [4][5][6].…”

mentioning

confidence: 99%