Plexiform Xanthomatous Tumor, Variety of Xanthoma or Subtype of Fibrohistiocytic Tumors?

Plexiform xanthomatous tumor was proposed as an independent neoplasm within fibrohistiocytic tumor group a few years ago. The arguments were based on their different clinical features as well as their own morphological and immunohistochemical findings. Nevertheless, it has not been widely studied yet, and there are few reports about this entity. Regarding a case, we reviewed the diagnostic characteristics of this underdiagnosed tumor.

Xanthomas: clinical and pathophysiological relations.

BACKGROUND: Xanthomas are well circumscribed lesions in the connective tissue of the skin, tendons or fasciae that predominantly consist of foam cells; these specific cells are formed from macrophages as a result of an excessive uptake of low density lipoprotein (LDL) particles and their oxidative modification. RESULTS: Until recently, xanthelasma was considered to be only a cosmetic lesion; however, according to the results of recent prospective studies it is connected with an increased cardiovascular risk and reduced average lifespan. Pathogenetic mechanisms involved in the development of xanthomas resemble early stages of atherogenesis. In clinical practice, xanthomas can signalise various congenital or acquired dyslipidemias. The most prevalent form of xanthomas is xanthelasma palpebrarum. Tendinous and tuberous xanthomas are typical for autosomal dominant hypercholesterolemia, as well as for some rare conditions, such as cerebrotendinous xanthomatosis and familial ß-sitosterolemia. In patients with familial hypercholesterolemia, the presence of tendinous xanthomas has been shown to be associated with a two to four times higher risk for cardiovascular disease. Eruptive xanthomas are skin manifestations of a severe hypertriglyceridemia and implicate an elevated risk for acute pancreatitis or type 2 diabetes mellitus. Xanthoma striatum palmare is pathognomic for primary dysbetalipoproteinemia, whereas diffuse plane xanthomas are frequently associated with paraproteinemia and lymphoproliferative disorders. CONCLUSION: Thorough familiarity with the clinical presentation of xanthomas helps in the diagnosis and follow-up of different forms of dyslipidemia. Moreover, xanthelasma palpebrarum, the most prevalent form of xanthomas, is connected with increased risk of atherothrombotic disease independently of conventional cardiovascular risk factors. To fully understand the pathogenesis, further experimental and clinical research is required.

Xantomas eruptivos: manifestación cutánea de desórdenes de las lipoproteínas / Eruptive xanthomas: skin manifestation of the lipoprotein disorders

Los xantomas constituyen tumores cutáneos, y se presentan por depósitos de lipoproteínas en los macrófagos tisulares. Clínicamente se manifiestan como lesiones papulosas o nodulares de color amarillento, estando relacionada su distribución con las diferentes formas clínicas de presentación. Aunque no se observan con frecuencia, su presencia puede alertar sobre la existencia de alteraciones en los niveles lipídicos en sangre, y es por lo que se presentó este caso, donde la presencia de los xantomas fue indicador de un incremento de los niveles de colesterol y triglicéridos, lo que pudo constituir un importante factor de riesgo para que la paciente presentara alteraciones en otros sistemas...

Xanthomas are skin tumors, and they present as a cause of lipoprotein deposits in tissue macrophages. Clinically they take the form of yellow papular or nodular lesions, being related its distribution with their different forms of presentation. Though they are not very frequent, their presence can alert about the existence of alterations in the lipid levels in blood. That is why we presented this case, where the presence of xanthomas was an indicator of the cholesterol and triglycerides level increase, what probably was an important risk fact for the patient to present alterations in other systems...

Xantomas eruptivos: manifestación cutánea de desórdenes de las lipoproteínas / Eruptive xanthomas: skin manifestation of the lipoprotein disorders

Los xantomas constituyen tumores cutáneos, y se presentan por depósitos de lipoproteínas en los macrófagos tisulares. Clínicamente se manifiestan como lesiones papulosas o nodulares de color amarillento, estando relacionada su distribución con las diferentes formas clínicas de presentación. Aunque no se observan con frecuencia, su presencia puede alertar sobre la existencia de alteraciones en los niveles lipídicos en sangre, y es por lo que se presentó este caso, donde la presencia de los xantomas fue indicador de un incremento de los niveles de colesterol y triglicéridos, lo que pudo constituir un importante factor de riesgo para que la paciente presentara alteraciones en otros sistemas...(AU)

Xanthomas are skin tumors, and they present as a cause of lipoprotein deposits in tissue macrophages. Clinically they take the form of yellow papular or nodular lesions, being related its distribution with their different forms of presentation. Though they are not very frequent, their presence can alert about the existence of alterations in the lipid levels in blood. That is why we presented this case, where the presence of xanthomas was an indicator of the cholesterol and triglycerides level increase, what probably was an important risk fact for the patient to present alterations in other systems...(AU)

Xantomas planos normolipémicos y micosis fungoide / Normolipemic plane xanthomas and mycosis fungoides

Los xantomas planos difusos normolipémicos se caracterizan por la presencia de placas amarillentas en párpados, cuello, parte superior del tronco, glúteos y flexuras. En la histología se objetivan histiocitos espumosos en la dermis. Aproximadamente la mitad de los casos se asocia a trastornos hematológicos. Raramente se han descrito en el contexto de linfomas cutáneos de células T. Presentamos el caso de una paciente con micosis fungoide tumoral que desarrolló xantomas planos normolipémicos coincidiendo con la aparición de nuevas lesiones de linfoma. Revisamos la literatura inglesa sobre la rara asociación de xantomas y linfomas cutáneos de células T

Diffuse normolipemic plane xanthomas are characterized by the presence of yellowish plaques on the eyelids, neck, upper trunk, buttocks and flexures. Histology shows foamy histiocytes in the dermis. Approximately half of all cases are associated with hematological disorders. On rare occasions, they have been described in the context of cutaneous T-cell lymphomas. We present the case of a female patient with tumor-stage mycosis fungoides who developed normolipemic plane xanthomas coinciding with the appearance of new lymphoma lesions. We review English-language literature regarding the rare association of xanthomas and cutaneous T-cell lymphomas

[Xanthomas]. / Les xanthomes.

Xanthomas are cutaneous lesions due to a local accumulation of spumous cells in the dermal tissue or the tendons. Histologically, they are characterized by the presence of histiocytes, fibroblasts, macrophages and Touton cells full of lipids. Xanthomas may be found on any part of the body and are usually yellow-orange in color. They may or may not be associated to hyperlipoproteinemia which may be genetic or secondary. A blood test and a complete physical examination are necessary in case such a lesion is discovered. When there is no hyperlipemia some types of xanthomas may be associated to rare diseases. Xanthomas are classified according to their clinical features.

Xanthomas: a marker for hyperlipidemias

Xanthomas are deposits of lipids in the skin and sometimes of the subcutaneous tissue that are expressed clinically as yellowish papules and plaques, nodules, and tumors. They are often, but not always, a consequence of hyperlipidemia. In these cases, a meticulous work-up nearly always reveals some disturbance in regards to the metabolism of the lipids-lack of certain lipoproteins, for example. Xanthoma tuberosum and tendinosum occur in persons with familiar hypercholesterolemia, palmar crease xanthoma in familial dysbetalipoproteinemia, plane xanthoma in persons with an underlying lymphoproliferative disorder (or normolipemic), and eruptive xanthoma in those with a genetically-transmitted lipoprotenemia. In sum, each type of xanthoma and any associated abnormality in lipid metabolism can be diagnosed with specificity. Xanthomas are deposits of lipid in the skin or subcutaneous tissue that manifest clinically as yellowish papules, nodules and tumors. They are often associated with hyperlipidemias, although some of them may be normolipemic. Xanthomas result when abnormalities in the transportation of lipids such as cholesterol, triglycerides and phospholipids cause these lipids to be deposited in the skin and being ingested by tissue macrophages. When they are deposited in the walls of arteries, they promote the development of atherosclerosis. Sometimes, by identifying the clinical variant of the xanthoma, the lipoprotein that is deposited and the clinical associations can be predicted. This discussion will focus on those xanthomas associated with hyperlipidemias

Xantomatosis eruptiva: a propósito de un caso / Eruptive xanthomata

Se presenta el caso de un paciente de sexo masculino y 41 años, diabético tipo II, que manifiesta la aparición en forma abrupta de múltiples lesiones diagnosticadas como xantomas eruptivos. Debido a que la hiperlipidemia puede presentarse con xantomas, los dermatólogos pueden ser los primeros en diagnosticar éstas lesiones cutáneas asociadas con anormalidades lipídicas (AU)

Xanthomas: a marker for hyperlipidemias.

Xanthomas are deposits of lipids in the skin and sometimes of the subcutaneous tissue that are expressed clinically as yellowish papules and plaques, nodules, and tumors. They are often, but not always, a consequence of hyperlipidemia. In these cases, a meticulous work-up nearly always reveals some disturbance in regards to the metabolism of the lipids-lack of certain lipoproteins, for example. Xanthoma tuberosum and tendinosum occur in persons with familiar hypercholesterolemia, palmar crease xanthoma in familial dysbetalipoproteinemia, plane xanthoma in persons with an underlying lymphoproliferative disorder (or normolipemic), and eruptive xanthoma in those with a genetically-transmitted lipoprotenemia. In sum, each type of xanthoma and any associated abnormality in lipid metabolism can be diagnosed with specificity. Xanthomas are deposits of lipid in the skin or subcutaneous tissue that manifest clinically as yellowish papules, nodules and tumors. They are often associated with hyperlipidemias, although some of them may be normolipemic. Xanthomas result when abnormalities in the transportation of lipids such as cholesterol, triglycerides and phospholipids cause these lipids to be deposited in the skin and being ingested by tissue macrophages. When they are deposited in the walls of arteries, they promote the development of atherosclerosis. Sometimes, by identifying the clinical variant of the xanthoma, the lipoprotein that is deposited and the clinical associations can be predicted. This discussion will focus on those xanthomas associated with hyperlipidemias.

Xantomatosis e hiperlipoproteinemia en la infancia: a propósito de un caso clínico / Xanthomas and hiperlipoproteinemia in infancy: apropos of a clinical case

Los xantomas cutáneos pueden ser marcadores cutáneos de una patología subyacente, por lo que su identificación y el conocimiento básico de las hiperlipoproteinemias hereditarias que afectan a la población infantil nos ayudarán a realizar un diagnóstico y derivación precoz de los pacientes portadores de estas enfermedades. Las alteraciones de las lipoproteínas pueden acompañarse de patologías tales como diabetes mellitus, enfermedad tiroidea o enfermedad cardiovascular ateroesclerótica precoz. Presentamos el caso clínico de un escolar portador de xantomas e hiperlipoproteinemia

Xantomatosis plana difusa asociada a gammapatía monoclonal / Diffuse plane xantomatosis associated with monoclonal gammapathy

La xantomatosis plana difusa es una enfermedad rara, dentro del grupo de las xantomatosis. Se presenta con infiltración y cambio de coloración de la piel; puede asociarse a enfermedades sistémicas, las que marcan su pronóstico. Se presenta un caso de xantomatosis plana difusa asociada a gammapatía monoclonal

Xantomatosis plana difusa asociada a gammapatía monoclonal / Diffuse plane xantomatosis associated with monoclonal gammapathy

La xantomatosis plana difusa es una enfermedad rara, dentro del grupo de las xantomatosis. Se presenta con infiltración y cambio de coloración de la piel; puede asociarse a enfermedades sistémicas, las que marcan su pronóstico. Se presenta un caso de xantomatosis plana difusa asociada a gammapatía monoclonal (AU)

Reticulohistiocytoma and multicentric reticulohistiocytosis. Histopathologic and immunophenotypic distinct entities.

The clinicopathological and immunohistochemical features of four patients with systemic multicentric reticulohistiocytosis (MR) were compared with five cases of solitary and one case of multiple reticulohistiocytoma (RH), which were confined to the skin only. The MR cases mostly affected the limbs of older women, while RH affected young male adults without preference to site. Characteristically, both entities consisted of oncocytic mononuclear histiocytes (with granular eosinophilic cytoplasm similar to oncocytic thyroid cells) and multinucleated histiocytes with a ground-glass appearance, which appeared to be much larger (> 200 microns) and bizarre in cases of RH compared with cases of MR (50-100 microns). In RH a variable number of vacuolated, spindle-shaped, and xanthomatized mononuclear histiocytes were also present. Immunohistochemical profiles showed positivity of mononuclear histiocytes with HHF35, factor XIIIa, and LN3 (HLA-DR), with a variable number of multinucleated histiocytes in RH showing binding with peanut agglutinin. In mono- and multinucleated histiocytes in both entities macrophage markers KP1 (CD68), KiM1P, HAM56, lysozyme, and alpha 1-antitrypsin were positive. However, macrophage markers MAC387 (L1 antigen) and Leu-M1 (CD15) were negative. Vimentin was universally positive in both conditions, with all other markers (S100, desmin, smooth muscle-specific actin, and QBEnd 10 [CD34]) negative. This study shows that histology supplemented by immunocytochemistry delineates MR from RH and immunohistochemical profiles indicate a cell lineage relationship between RH and adult xanthogranuloma.

Generalized papular xanthomatosis in mycosis fungoides.

Xanthomas can occur in association with underlying lymphoproliferative disease, or they can result from lipid deposition in damaged or altered skin. We report a case of generalized papular xanthomas that developed in a patient with Sézary syndrome. The xanthomas were composed of foamy histiocytes that were shown by immunoperoxidase staining to be of the monocyte/macrophage lineage. Electron microscopic studies revealed lipid vacuoles, lysosomes, and myelin figures but no Birbeck granules, features that are consistent with a non-X histiocytosis. Generalized papular xanthomatosis has not been previously described in a patient with cutaneous T-cell lymphoma.