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

Primary Myelofibrosis (PMF) is a chronic myeloproliferative neoplasm characterized by bone marrow fibrosis, splenomegaly, and anemia with nucleated and teardrop-shaped RBCs. The spleen is often very large. Marked enlargement of the spleen and liver may result in infarction, portal hypertension, hypersplenism, plasma volume expansion, and splanchnic vein thrombosis. Myelofibrosis may be primary or secondary to several hematologic, malignant, and non-malignant […]

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Essential Thrombocythemia

Essential Thrombocythemia - Bone Marrow

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN) characterized 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 are asymptomatic at diagnosis. ET usually occurs […]

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Polycythemia Rubra Vera

polycythemia rubra vera

Polycythemia Rubra Vera (PRV) is a chronic myeloproliferative neoplasm characterized by an increased red blood cell (RBC) production and RBC mass often manifested as an increased hematocrit (Hct).  There is a malignant transformation of the multipotential stem cell with excess production of red blood cells in the bone marrow and blood, causing the blood to thicken. The number of white […]

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Chronic Myeloid Leukemia

Chronic Myeloid Leukemia

Chronic myeloid leukaemia (CML), also known as chronic myelogenous leukaemia, is a myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without losing its capacity to differentiate. Chronic myeloid leukaemia ICD-10 code is C91. 10. 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 […]

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Langerhan’s Cell Histiocytosis

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 Cells

Gaucher’s Disease is a rare genetic disorder that falls under the category of lysosomal storage diseases. Gaucher’s Disease is an autosomal recessive condition most common in Jews. Gaucher’s Disease is caused by mutations in the GBA gene, leading to deficient activity of the enzyme glucocerebrosidase. This deficiency results in the accumulation of glucocerebroside within macrophages, leading to the formation of […]

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Sea Blue Histiocytes

Sea Blue Histiocyte

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 dominant 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, […]

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Chediak-Higashi Syndrome

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

Chronic Granulomatous Disease (CGD) is a rare inherited disease that affects the immune system’s ability to fight off bacterial and fungal infections. Chronic Granulomatous Disease (CGD) is important as the study of the condition has helped understand the phagocyte oxidase system. Chronic Granulomatous Disease is caused by mutations in any one of the genes that code for the components of the […]

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