Xantoma disseminado: relato de caso e revisão da literatura / Disseminated xanthoma: a case report and literature review

Xantoma disseminado é uma histiocitose não Langerhans, rara, não familiar, benigna, normolipídica, caracterizada pela deposição lipídica na pele e órgãos internos secundária à proliferação histiocitária. É caracterizado por lesões xantomatosas que geralmente afetam as regiões flexurais e, frequentemente, acomete mucosas. Tem curso em geral benigno, com resolução das lesões cutâneas em alguns anos, porém lesões em certas localizações podem resultar em morbidade e até óbito, sendo, nestes casos, o achado cutâneo uma importante pista diagnóstica. Devido à sua raridade, não há um consenso terapêutico, e as respostas às terapias têm sido insatisfatórias. Relatamos o caso de uma paciente com essa patologia, na qual não foi detectada patologia sistêmica (AU)

Disseminated xanthoma is a rare non-familial, benign, and normolipid form of non-Langerhans histiocytosis, characterized by lipid deposition in the skin and internal organs secondary to histiocytic proliferation. It is characterized by xanthomatous lesions that generally affect the flexural regions and often affects mucous membranes. Although it has a generally benign course, with resolution of cutaneous lesions in a few years, lesions in certain locations can result in morbidity and even death. In these cases, the cutaneous finding is an important diagnostic clue. Because of its rarity, there is no therapeutic consensus and responses to therapies have been unsatisfactory. Here we report the case of a patient with this disorder, in whom no systemic disease was detected (AU)

Síndrome hematofagocítico: Reporte de cuatro casos y revisión de la literatura / Hemophagocytic syndrome: Report of four cases

Hemophagocytic syndrome (HS) is a severe hyper inflammatory condition whose cardinal symptoms are prolonged fever, cytopenia, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. The clinical course resembles sepsis, sharing similar physiopathological features. We report four patients with the syndrome. A 61-year-old female presenting with fever and pleuritic pain. During the course of the disease, a pancytopenia was detected and a bone marrow aspiration was suggestive of HS. The patient was treated with cyclosporine and steroids with a good response. A 61-year-old male with fever and pancytopenia and a bone marrow aspirate suggestive of HS. The patient did not respond to treatment and died. A 23-year-old male with fever, pancytopenia and positive Hanta virus antibodies. A bone marrow aspirate was suggestive of HS. The patient recovered without any treatment. A 72-year-old male admitted with the diagnosis of pneumonia, that developed a progressive pancytopenia and bone marrow aspirate was suggestive of HS. A bronchoalveolar lavage showed the presence of Acinetobacter baumanii. Despite treatment with methylprednisolone and gammaglobulin, the patient died. Awareness of the clinical symptoms and of the diagnostic criteria of HS is important to start life-saving therapy in time.

Xantoma diseminado / Disseminated xanthoma

Paciente de sexo femenino, de 22 años de edad, que consulta por poliuria, fiebre, desorientación témpo-espacial y pápulas pardo-rojizas en párpados, surco nasogenianos, pliegues y raíz de miembros. Se solicitan exámenes complementarios y biopsia confirmando el diagnóstico de xantoma diseminado. El interés del caso radica en una patología poco frecuente, generalmente de evolución benigna que en nuestra paciente tuvo desenlace fatal.

Clinical and biological significance of clonal macrophage detection in hemophagocytic syndrome / 华中科技大学学报（医学）（英德文版）

By using the method of clonal analysis the evidence to prove that Hemophagocytic syndrome (HPS) is reactive or malignant was investigated to probe into the pathogenesis of HPS and its relations with clinical prognosis. The macrophages abnormally proliferated in bone marrow were isolated. Electrophoresis analysis was made after DNA extraction, enzyme restriction of human ardrogen receptor (HUMARA) genetic locus, and PCR amplification. In the 9 specimens, clonal proliferation was found in 2 cases and nonclonal proliferation in 7. Among the 7 cases of nonclonal proliferation, 3 were voluntarily discharged without clinical outcome, 2 cases fully recovered after 2-3 week treatment of large dose gamma globulin intravenous drip and hormone therapy, 1 case died at the 43th day after the hormone and anti-infection therapy, and one case was found to have granular leukoblast in peripheral blood after 3 weeks and diagnosed as having M2a after bone puncture. For the two patients with clonal proliferation, one obtained remission after chemotherapy and the other was died after 32 days without chemotherapy. It was concluded that there do exist clonal or malignant proliferation in HPS, so not every case is reactive.

Bone marrow transplantation in a child with hemophagocytic lymphohistiocytosis using a less toxic conditioning regimen

Background. Hemophagocytic lymphohistiocytosis (HLH) is a rare non-neoplastic, frequently fatal disease of childhood. HLA-matched bone marrow transplantation (BMT) can bring about long-term remission and an eventual cure. Methods. We report on the beneficial effect of BMT in a 2-month-old male using a less intensive conditioning regimen. The regimen included busulfan at 4 mg/kg/day (total dose 16 mg/kg), etoposide at 300 mg/m²/day (total dose 900 mg/m²), and cyclophosphamide at 50 mg/kg/day (total dose 150 mg/kg). Prophylaxis for graft-vs.-host disease included methotrexate and cyclosporine. Results. An absolute neutrophil count of 500 µL was noticed on + day 12 (engraftment day). At present, i.e., 400 days after the procedure, the patients is asymptomatic, his physical examination is normal, and a slightly increased level of gamma-glutamyl-transpeptidase (GGT) and alkaline phosphatase are the only laboratory abnormalities. Conclusions. In this case, the conditioning regimen was adequate for the eradication of the disease and allowed persistent engraftment without significant toxicity. The results in our patient suggest that a less toxic regiment is feasible and permits rapid engraftment without compromising the effectiveness of chemotheraphy

Síndrome hemofagocítico / Haemophogocytic syndrome

El sindrome hemofagocítico es una proliferación reactiva de histiocitos benignos, asociados a fagocitosis de elementos hemopoyéticos y pancitopenia periferica. Entre los factores desencadenantes se ha encontrado una infección viral activa en el 80 por ciento de los casos. En su patogenia estaría involucrada como hecho basico, la activación descontrolada de celulas T, con la consecuente cascada patológica que conduciria a la proliferación reactiva de monocitos e histiocitos y la hemofagocitosis secundaria. Los hallazgos clínicos mas observados son hepatoesplenomegalia, linfoadenopatías y fiebre. Se analiza una paciente internada en la Sala XIX del Pabellón DïAmelio del HIGA Gral. San Martín de La Plata, que se presentó con esta enfermedad, manifestada por pancitopenia y compromiso multiorgánico y desencadenada por el virus B de la hepatitis. Se expone el diagnóstico y tratamiento.

Síndrome hemofagocítico asociado a parvovirus B19 y citomegalovirus / Parvovirus associated hemophagocytic syndrome B19 citomegalovirus

El síndrome hemofagocítico asociado a virus está caracterizado por fiebre elevada, hepatoesplenomegalia, anormalidades de la coagulación, linfadenopatías, pancitopenia y una proliferación histiocítica benigna con hemofagocitos en médula ósea, ganglios linfáticos, bazo e higado. Los virus del grupo herpes han sido los más frecuentementes identificados como agentes causantes. Se presenta el caso de un varón de 5 meses de edad con síndrome hemofagocítico y evidencia serológica de infección reciente por parvovirus B19 y citomegalovirus; con evolución tórpida sin respuesta al tratamiento con antivirales, inmunoglobulina y quimioterapia. Destacamos la importancia de la infección por parvovirus B19 en el diagnóstico diferencial de los niños con hepatoesplenomegalia y alteraciones hematológicas. Asimismo, se trata del segundo caso reportado en la literatura de síndrome hemofagocítico secundario e infección por parvovirus B19