Mycosis Fungoides

erythematous plaques in advancing mycosis fungoides

Mycosis Fungoides (MF) and Sezary Cell Leukemia (SCL) are related T-cell cutaneous lymphoma/leukemia. Clinical Features: Mycosis Fungoides is an uncommon chronic T-cell lymphoma primarily affecting the skin and occasionally the internal organs. The disease is most common in middle-aged men. There are eczematous lesions, plaques, tumors and ulcers of the skin without overt blood involvement. In the late stages, the […]






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Primary Myelofibrosis

Primary Myelofibrosis (PMF) is a chronic myeloproliferative disorder characterized by bone marrow fibrosis, splenomegaly, and anemia with nucleated and teardrop-shaped RBCs. The spleen is often very large. Myelofibrosis may be primary or secondary to a number of hematologic, malignant, and nonmalignant conditions e.g. PRV, ET, hairy cell leukemia, cancer with bone marrow metastases, osteomyelitis and TB. PMF is more common than […]






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Essential Thrombocythemia

Essential thrombocythaemia (ET) is a myeloproliferative neoplasm (MPN) characterised by megakaryocyte hyperplasia and thrombocytosis due to a clonal abnormality of a multipotent hematopoietic stem cell. From the genetic perspective, ET patients harbour mutations in JAK2 (50–60%), CALR (15–30%) and MPL (1–5%) genes. Platelet survival is normal in ET. Approximately one-third of patients with ET is asymptomatic at diagnosis. ET usually occurs […]






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Polycythemia Rubra Vera

Polycythemia Rubra Vera (PRV) or Primary Polycythemia Vera is a chronic myeloproliferative disorder characterized by an increase in RBC mass, which often manifests as an increased hematocrit (Hct). There is a malignant transformation of the multipotential stem cell with excess production of red cells. PRV involves increased production of all cell lines, including RBCs, WBCs, and platelets. Polycythaemia Rubra Vera […]






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Chronic Myeloid Leukemia

Aetiology: In chronic myeloid leukemia (CML) there is a malignant transformation of the multipotential hematopoietic stem cells (pluripotent stem cells). There are excessive cells in the granulocytic series, primarily in the bone marrow but also in extramedullary sites (e.g. spleen, liver), although these malignant cells do differentiate nearly normally. Although granulocyte production predominates, the neoplastic clone includes RBCs, megakaryocytes, monocytes, and […]






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Langerhan’s Cell Histiocytosis

Langerhan’s Cell Histiocytosis (LCH), also called Histiocytosis X, is a group of diseases ranging from the relatively benign unifocal eosinophilic granuloma, to the multifocal variant, to the very malignant diffuse histiocytic infiltration previously known as the Letterer-Siwe syndrome which is frequently fatal. This disorder is characterized by an abnormal increase in certain immune cells called histiocyte cells. Histiocyte cells are […]






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Gaucher’s Disease

Gaucher’s Disease is an autosomal recessive condition most common in Jews. There is β-glucocerebrosidase deficiency causing deposition of glucocerebroside and related compounds, leading to hepatosplenomegaly, CNS changes and bony infiltration. Glucocerebrosidase normally hydrolyzes glucocerebroside to glucose and ceramide. Genetic defects of the enzyme cause glucocerebroside accumulation in tissue macrophages through phagocytosis, forming Gaucher cells (with onion skin appearance). Accumulation of […]






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Sea Blue Histiocytes

Sea Blue Histiocytes are large lipid-containing histiocytes in the bone marrow which stain sea blue in color. They may be found in a rare autosomal condition characterized by neurological impairment and splenomegaly. Sea-blue–colored histiocytes have been described in the setting of high rates of intramedullary cell death due to lipid storage diseases (e.g. Niemann-Pick disease), myelodysplastic syndromes (MDS), lymphomas, chronic […]






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Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive primary immunodeficiency disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis and impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory and other infections, albinism, a bleeding tendency, and often progressive neurological disease. Chediak-Higashi syndrome was described over 50 years ago. Initially […]






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Chronic Granulomatous Disease

Chronic Granulomatous Disease (CGD) is a rare inherited disease but is of importance as the study of the condition has helped in the understanding of the phagocyte oxidase system. The inheritance is most commonly x-linked. Affected individuals suffer from recurrent infections, particularly with staphylococci. CGD is a primary immunodeficiency that affects phagocytes of the immune system and leads to recurrent […]






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