1/20. Clonal change of infiltrating T-cells in children with familial hemophagocytic lymphohistiocytosis: possible association with Epstein-Barr virus infection.BACKGROUND: Although familial hemophagocytic lymphohistiocytosis (FHL) has been considered a T-cell disorder, to the authors' knowledge there are no previous reports on the clonal basis of FHL. In the current study the authors analyzed the clonality of T-cells in two FHL patients at the time of disease onset and at disease progression. methods: Patient 1 had FHL and died of recurrent disease 4 months after bone marrow transplantation (BMT). His liver and spleen showed massive infiltrations of CD3 , CD4-, and CD8 T-cells. The Epstein-Barr virus (EBV) genome was detected by in situ hybridization. Patient 2 also had FHL and died of progressive disease 9 weeks after the onset of disease despite chemotherapy. A polymerase chain reaction (PCR) analysis showed positive EBV genome in the peripheral blood, liver, and spleen of Patient 2. In the two patients, T-cell receptor-beta and alpha-chain variable region (TCR Vbeta and V alpha) repertoires in peripheral mononuclear cells were analyzed at the time of disease onset and at disease progression by the inverse PCR method. When a high usage (> 15%) of a specific Vbeta family member was observed, a clonal analysis was performed by PCR using beta-chain joining region (Jbeta) primers. The clonality of specific Vbeta-Jbeta fragments was confirmed by a single strand confirmation polymorphism (SSCP) analysis. RESULTS: Although there was no preferential usage of Vbeta in Patient 1, the exclusive expression of Jbeta1.2 for Vbeta13 was observed. A high frequency of Vbeta13 also was observed at the time of disease progression, but the Jbeta fragment for Vbeta13 was polyclonal. In Patient 2, the restricted usage of Jbeta1.6 for Vbeta5a was observed at the time of disease onset, whereas Jbeta1.1 and 1.2 for Vbeta4 were observed exclusively at the time of disease progression. The clonality of Vbeta13-Jbeta1.2 in Patient 1 and Vbeta5a-Jbeta1.6 and Vbeta4-Jbeta1.1/Jbeta1.2 in Patient 2 was confirmed by SSCP analysis. CONCLUSIONS: These findings suggest that the polyclonal T-cell lymphoproliferative disease associated with EBV was induced after BMT in Patient 1, and that the clonal change of expanded T-cells also was induced by EBV in Patient 2. The clonal analysis of T-cells is a useful tool to clarify the pathogenesis of FHL.- - - - - - - - - - ranking = 1keywords = histiocytosis (Clic here for more details about this article) |
2/20. Hereditary progressive mucinous histiocytosis.We describe a 61-year-old woman who presented with multiple small, firm, shiny, skin-coloured papules in a symmetrical pattern on the dorsum of the hands, sides of the fingers and extensor aspect of the forearms. These had slowly increased in number over a period of 40 years, and were asymptomatic. Both laboratory results and systemic review were unremarkable. Histological examination of six papules revealed well-circumscribed but unencapsulated dermal nodules composed of epithelioid histiocytes and abundant alcian blue-positive mucin separating broad bundles of collagen. histiocytes within the nodule stained positively with vimentin, and were focally positive for alpha1-antitrypsin and lysozyme. The interstitium was positive for tenascin. On electron microscopy, the histiocytes showed numerous circular, osmophilic myelin bodies and zebra bodies reminiscent of those seen in lysosomal storage diseases. Our patient's clinical, histological and ultrastructural features have been previously described as hereditary progressive mucinous histiocytosis, a rare familial form of eruptive histiocytoma characterized by multiple persistent papules with prominent mucinosis.- - - - - - - - - - ranking = 1keywords = histiocytosis (Clic here for more details about this article) |
3/20. Benign cephalic histiocytosis progressing into juvenile xanthogranuloma: a non-Langerhans cell histiocytosis transforming under the influence of a virus?Benign cephalic histiocytosis (BCH) is best understood as a form of non-Langerhans cell histiocytosis, specifically as an early mononuclear variant of juvenile xanthogranuloma (JXG). However, the progression of BCH into JXG in the same patient has only been reported once before. We describe the case of a 2-year-old girl with asymptomatic, large, ill-defined infiltrated flat plaques over both cheeks, in addition to isolated papules. A punch biopsy of a plaque revealed dermal infiltration by vacuolated and scalloped histiocytes positive for CD68 KP-1, and that lacked expression of CD1a and S-100 protein, favoring macrophages over langerhans cells. Electron microscopy study showed comma-shaped intracytoplasmic bodies in the histiocytic cells leading to the diagnosis of BCH. One year later, after an episode of varicella-zoster infection, the flat plaques over the cheeks became large reddish-yellow nodules, and in a second biopsy appeared to progress to JXG. Virus-related mechanisms of progression are discussed.- - - - - - - - - - ranking = 2keywords = histiocytosis (Clic here for more details about this article) |
4/20. tumor lysis syndrome in an infant with Langerhans cell histiocytosis successfully treated using continuous arteriovenous hemofiltration.Langerhans cell histiocytosis (LCH) is an enigmatic disease usually occurring in children. tumor lysis syndrome (TLS) is a clinical syndrome associated with severe metabolic derangement and oliguric acute renal failure. In this report, we present the clinical course of an infant with advanced LCH who had TLS develop after chemotherapy. Treatment with continuous arteriovenous hemofiltration resulted in effective control of serum uric acid, potassium, creatinine, phosphorus, and blood urea nitrogen levels in the blood.- - - - - - - - - - ranking = 1keywords = histiocytosis (Clic here for more details about this article) |
5/20. Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis.Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients presented here, a 20-month-old Italian female and a 4-year-old Moroccan female, is that the initial presenting neurological symptoms mimicked an encephalitis, anticipating the typical systemic symptoms by 1 and 4 months. They developed progressive encephalopathy accompanied by status epilepticus, one child developed a secondary hydrocephalus. In both children it was not possible to detect an underlying infection or malignant disease and there were no other cases in the family that suggested a familial form of HLH. Diagnosis and initiation of treatment was delayed because of the initial encephalopathic clinical picture and the late onset of the typical systemic features. As early diagnosis allows better therapeutical approaches, haemophagocytic lymphohistiocytosis should be considered in children with persistent or progressive findings of encephalopathy, especially in the absence of identification of a plausible pathogen.- - - - - - - - - - ranking = 1.2keywords = histiocytosis (Clic here for more details about this article) |
6/20. Progressive nodular histiocytosis in a child with a hypothalamic tumor.We report a 13-year-old girl with multiple cutaneous histiocytic lesions, precocious puberty, growth hormone deficiency and a hypothalamic tumour. We conclude that she has progressive nodular histiocytosis, but this case illustrates the difficulty in differentiating the type II histiocytoses.- - - - - - - - - - ranking = 1keywords = histiocytosis (Clic here for more details about this article) |
7/20. Unrelated cord blood transplantation for an infant with chemotherapy-resistant progressive Langerhans cell histiocytosis.The authors describe a patient successfully treated with unrelated cord blood transplantation (CBT) for chemotherapy-resistant progressive Langerhans cell histiocytosis (LCH). An 8-month-old boy had LCH diagnosed based on the histologic examination of skin lesions. Despite intensive chemotherapy and immunotherapy, the disease was progressive, with organ dysfunction. He received unrelated CBT after a conditioning regimen consisting of total body irradiation, etoposide, and melphalan. He was in complete remission 12 months after the transplantation. The authors suggest that CBT could be considered in the treatment of patients with chemotherapy-resistant progressive LCH, especially if there are no available human leukocyte antigen-matched family donors.- - - - - - - - - - ranking = 1keywords = histiocytosis (Clic here for more details about this article) |
8/20. lung cancer and Rosai-Dorfman's disease. A clinicopathological study.CASE REPORT: A 60-year-old female patient underwent craniotomy for a cerebral lesion in the frontoparietal lobe. Histologically, it turned out to be a metastasis from an adenocarcinoma. The primary tumor was found in the upper lobe of the left lung. The patient had whole brain radiation therapy only, the lung tumor was not treated. 4 years later, she presented with enlarged cervical lymph nodes. A biopsy showed dilated sinuses filled with histiocytes, but no tumor cells. The diagnosis of sinus histiocytosis with massive lymphadenopathy was made (Rosai-Dorfman's disease). Without any treatment, the swelling resolved completely a few weeks later. Similar episodes were observed several times in the following years. The patient died more than 7 years after the diagnosis of a metastasizing lung cancer due to pneumonia. CONCLUSION: In a patient with a pulmonary neoplasm and suspected supraclavicular lymph node spread, Rosai-Dorfman's syndrome should be considered as a rare differential diagnosis.- - - - - - - - - - ranking = 0.2keywords = histiocytosis (Clic here for more details about this article) |
9/20. Aggressive and atypical manifestations of erdheim-chester disease.erdheim-chester disease (ECD) is a disseminated non-Langerhans' cell histiocytosis with multisystem involvement, including characteristic sclerotic musculoskeletal lesions. We present the case of a 27-year-old woman with a fulminant course and atypical involvement by ECD manifesting as extensive cerebrovascular disease and lytic musculoskeletal lesions. This case represents an unusual and aggressive presentation of ECD owing to the patient's young age, the severity of the cerebrovascular involvement and the lytic osseous lesions.- - - - - - - - - - ranking = 0.2keywords = histiocytosis (Clic here for more details about this article) |
10/20. Langerhans' cell histiocytosis and haemophagocytic lymphohistiocytosis in an elderly patient.We present a case of a 78-year-old man suffering from a chronic psoriasiform eruption, with rapid deterioration over the previous 8 weeks. Langerhans' cell histiocytosis with skin and bone involvement was diagnosed, and there was evidence of liver and lung dysfunction. The patient was treated with prednisolone and etoposide, and initially experienced a partial improvement. Three weeks later, haemophagocytic lymphohistiocytosis and subsequently a large pulmonary abscess with sepsis attributed to opportunistic gram-negative enterobacteriaceae serratia marcescens developed, and the patient died. The present case of Langerhans' cell histiocytosis is of particular interest because of the previously unreported development of haemophagocytic lymphohistiocytosis in the elderly population.- - - - - - - - - - ranking = 2.4keywords = histiocytosis (Clic here for more details about this article) |
| | Next -> |