| Sea-blue histiocytosis | |
|---|---|
| Specialty | Hematology  |
Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. [1] :720
| Sea-blue histiocytosis | |
|---|---|
| Specialty | Hematology |
Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an acquired secondary or systemic infiltrative process. [1] :720
It can be associated with the gene APOE. [2]
It can also be acquired. [3] Sea-blue histiocyte syndrome is seen in patients receiving fat emulsion as a part of long-term parenteral nutrition (TPN) for intestinal failure.
The high lipid content in the blood leads to excessive cytoplasm loading of lipids within histiocytes.
The subsequent incomplete degradation of these lipids leads to the formation of cytoplasmic lipid pigments.
High lipid content may also cause membrane abnormality of the hemopoietic cells which is recognized by macrophages and therefore, increased accumulation within the bone marrow.
These lipid laden histiocytes appear blue with May-Giemsa [4] /PAS stain hence the name of Sea-Blue Histocyte Syndrome. Sea-blue histiocytosis is also seen in lipid disorders.
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A xanthoma, from Greek ξανθός (xanthós) 'yellow', is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. They are cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skin. They are associated with hyperlipidemias, both primary and secondary types.
Niemann–Pick disease is a group of severe inherited metabolic disorders, in which sphingomyelin accumulates in lysosomes in cells.
Langerhans cell histiocytosis (LCH) is an abnormal clonal proliferation of Langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. Symptoms range from isolated bone lesions to multisystem disease.
Farber disease is an extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. Normally, the enzyme ceramidase breaks down fatty material in the body’s cells. In Farber disease, the gene responsible for making this enzyme is mutated. Hence, the fatty material is never broken down and, instead, accumulates in various parts of the body, leading to the signs and symptoms of this disorder.
Malignant histiocytosis is a rare hereditary disease found in the Bernese Mountain Dog and humans, characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected. Histiocytes are a component of the immune system that proliferate abnormally in this disease. In addition to its importance in veterinary medicine, the condition is also important in human pathology.
A histiocytoma in the dog is a benign tumor. It is an abnormal growth in the skin of histiocytes (histiocytosis), a cell that is part of the immune system. A similar disease in humans, Hashimoto-Pritzker disease, is also a Langerhans cell histiocytosis. Dog breeds that may be more at risk for this tumor include Bulldogs, American Pit Bull Terriers, American Staffordshire Terriers, Scottish Terriers, Greyhounds, Boxers, and Boston Terriers. They also rarely occur in goats and cattle.
Erdheim–Chester disease (ECD) is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages. It was declared a histiocytic neoplasm by the World Health Organization in 2016. Onset typically is in middle age. The disease involves an infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones.
Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis, and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages, characterised by proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH).
In medicine, histiocytosis is an excessive number of histiocytes, and the term is also often used to refer to a group of rare diseases which share this sign as a characteristic. Occasionally and confusingly, the term "histiocytosis" is sometimes used to refer to individual diseases.
Niemann-Pick disease, type C1 (NPC1) is a disease of a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene.
Chronic multifocal Langerhans cell histiocytosis, previously known as Hand–Schüller–Christian disease, is a type of Langerhans cell histiocytosis (LCH), which can affect multiple organs. The condition is traditionally associated with a combination of three features; bulging eyes, breakdown of bone, and diabetes insipidus, although around 75% of cases do not have all three features. Other features may include a fever and weight loss, and depending on the organs involved there maybe rashes, asymmetry of the face, ear infections, signs in the mouth and the appearance of advanced gum disease. Features relating to lung and liver disease may occur.
Barraquer–Simons syndrome is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax. It is named for Luis Barraquer Roviralta (1855–1928), a Spanish physician, and Arthur Simons (1879–1942), a German physician. Some evidence links it to LMNB2.
Niemann-Pick C1-Like 1 (NPC1L1) is a protein found on the gastrointestinal tract epithelial cells as well as in hepatocytes. Specifically, it appears to bind to a critical mediator of cholesterol absorption.
Rosai–Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or sometimes as Destombes–Rosai–Dorfman disease, is a rare disorder of unknown cause that is characterized by abundant histiocytes in the lymph nodes or other locations throughout the body.
Niemann–Pick type C (NPC) is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people. Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade.
Familial hypertriglyceridemia is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins (VLDL). As a result, an afflicted individual will have an excessive number of VLDL and triglycerides on a lipid profile. This genetic disorder usually follows an autosomal dominant inheritance pattern. The disorder presents clinically in patients with mild to moderate elevations in triglyceride levels. Familial hypertriglyceridemia is typically associated with other co-morbid conditions such as hypertension, obesity, and hyperglycemia. Individuals with the disorder are mostly heterozygous in an inactivating mutation of the gene encoding for lipoprotein lipase (LPL). This sole mutation can markedly elevate serum triglyceride levels. However, when combined with other medications or pathologies it can further elevate serum triglyceride levels to pathologic levels. Substantial increases in serum triglyceride levels can lead to certain clinical signs and the development of acute pancreatitis.
Periodontitis as a manifestation of systemic diseases is one of the seven categories of periodontitis as defined by the American Academy of Periodontology 1999 classification system and is one of the three classifications of periodontal diseases and conditions within the 2017 classification. At least 16 systemic diseases have been linked to periodontitis. These systemic diseases are associated with periodontal disease because they generally contribute to either a decreased host resistance to infections or dysfunction in the connective tissue of the gums, increasing patient susceptibility to inflammation-induced destruction.
These secondary periodontal inflammations should not be confused by other conditions in which an epidemiological association with periodontitis was revealed, but no causative connection was proved yet. Such conditions are coronary heart diseases, cerebrovascular diseases and erectile dysfunction.
The Xanthogranulomatous Process (XP), is a form of acute and chronic inflammation characterized by an exuberant clustering of foamy macrophages among other inflammatory cells. Localization in the kidney and renal pelvis has been the most frequent and better known occurrence followed by that in the gallbladder but many others have been subsequently recorded. The pathological findings of the process and etiopathogenetic and clinical observations have been reviewed by Cozzutto and Carbone.
The Histiocyte Society is an international network of people that co-ordinate studies of the histiocytoses, which it has divided into Langerhans cell histiocytosis, non-Langerhans cell histiocytoses, and malignant histiocytosis. They provided the criteria to definitively diagnose Langerhans cell histiocytosis.
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