Von Hippel–Lindau disease (VHL), also known as VonHippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
Pathology is the study of disease. The word pathology also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in the context of modern medical treatment, the term is often used in a narrower fashion to refer to processes and tests that fall within the contemporary medical field of "general pathology", an area that includes a number of distinct but inter-related medical specialties that diagnose disease, mostly through analysis of tissue and human cell samples. Idiomatically, "a pathology" may also refer to the predicted or actual progression of particular diseases. The suffix pathy is sometimes used to indicate a state of disease in cases of both physical ailment and psychological conditions. A physician practicing pathology is called a pathologist.
Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells and is part of the paraganglioma (PGL) family of tumors, being defined as an intra-adrenal PGL. These neuroendocrine tumors can be sympathetic, where they release catecholamines into the bloodstream which cause the most common symptoms, including hypertension, tachycardia, sweating, and headaches. Some PGLs may secrete little to no catecholamines, or only secrete paroxysmally (episodically), and other than secretions, PGLs can still become clinically relevant through other secretions or mass effect. PGLs of the head and neck are typically parasympathetic and their sympathetic counterparts are predominantly located in the abdomen and pelvis, particularly concentrated at the organ of Zuckerkandl at the bifurcation of the aorta.
A biopsy is a medical test commonly performed by a surgeon, an interventional radiologist, or an interventional cardiologist. The process involves the extraction of sample cells or tissues for examination to determine the presence or extent of a disease. The tissue is then fixed, dehydrated, embedded, sectioned, stained and mounted before it is generally examined under a microscope by a pathologist; it may also be analyzed chemically. When an entire lump or suspicious area is removed, the procedure is called an excisional biopsy. An incisional biopsy or core biopsy samples a portion of the abnormal tissue without attempting to remove the entire lesion or tumor. When a sample of tissue or fluid is removed with a needle in such a way that cells are removed without preserving the histological architecture of the tissue cells, the procedure is called a needle aspiration biopsy. Biopsies are most commonly performed for insight into possible cancerous or inflammatory conditions.
Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase, which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.
Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity. These are inherited metabolic disorders in which sphingomyelin accumulates in lysosomes in cells of many organs. NP types A, A/B, and B are caused by mutations in the SMPD1 gene, which causes a deficiency of an acid sphingomyelinase (ASM). NP type C is now considered a separate disease, as SMPD1 is not involved, and there is no deficiency in ASM.
Hepatosplenomegaly is the simultaneous enlargement of both the liver (hepatomegaly) and the spleen (splenomegaly). Hepatosplenomegaly can occur as the result of acute viral hepatitis, infectious mononucleosis, and histoplasmosis or it can be the sign of a serious and life-threatening lysosomal storage disease. Systemic venous hypertension can also increase the risk for developing hepatosplenomegaly, which may be seen in those patients with right-sided heart failure.
A lipid storage disorder is any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in some body cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize and break down lipids or, they produce enzymes that do not work properly. Over time, the buildup of fats may cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.
Friedrich Daniel von Recklinghausen was a German pathologist born in Gütersloh, Westphalia. He was the father of physiologist Heinrich von Recklinghausen (1867–1942).
Nikolaus Friedreich was a German pathologist and neurologist, and a third generation physician in the Friedreich family. His father was psychiatrist Johann Baptist Friedreich (1796–1862), and his grandfather was pathologist Nicolaus Anton Friedreich (1761–1836), who is remembered for his early description of idiopathic facial paralysis, which would later be known as Bell's palsy.
Carl Wedl was a pathologist who was a native of Vienna, Austrian Empire.
Karl Theodor Fahr was a German pathologist born in Pirmasens of the Rhineland-Palatinate.
Otto Lubarsch was a German pathologist and academic who was a native of Berlin. Among other contributions to medical knowledge, Lubarsch provided the first detailed description of carcinoid tumors.
Robert Rössle was a German pathologist. He was born in Augsburg and died in Berlin.
Carl Max Wilhelm Wilms was a German pathologist and surgeon who was a native of Hünshoven, which today is part of the town Geilenkirchen.
Felix Victor Birch-Hirschfeld was a German pathologist who was a native of Kluvensieck bei Rendsburg.
SMPD1-associated Niemann–Pick disease refers to two different types of Niemann–Pick disease, type A (NPA) and type B (NPB), which are associated with the SMPD1 gene.
Ferdinand Albert Thierfelder was a German pathologist born in Meissen. He was the son of city physician Johann Gottlieb Thierfelder (1799–1867), and was a younger brother to internist Theodor Thierfelder (1824–1904).
Juan Rosai was an Italian-born American physician who contributed to clinical research and education in the specialty of surgical pathology. He was the principal author and editor of a major textbook in that field, and he characterized novel medical conditions such as Rosai-Dorfman disease and the desmoplastic small round cell tumor. Rosai is also well-known because of his role as teacher, mentor and consultant to many American and international surgical pathologists.
Ernst Klenk was a German biochemist, known as a pioneer in research on biolipids, their metabolism, and diseases caused by biolipid disorders.
