Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Between May 1995 and March 1996 we were able to diagnose and remove glomus tumors of the left nasal cavity from three female patients. Ages of the patients were 9, 36 and 74 years. All patients suffered from a frequent epistaxis and all were extremely sensitive to the slightest nasal touch. One patient reported breathing difficulties due to nasal congestion. Examination revealed a tumor that filled the entire nasal cavity. The method of choice in treatment of these tumors is surgical removal. Hemangiopericytoma, non-chromaffin paraganglioma, hidradenoma, cavernous hemangioma and nevus cell nevi have to be excluded by histology and immunohistochemical techniques. From a clinical perspective the bleeding septal polyp (granuloma telangiectaticum sive pyogenicum sive pediculatum) has to be considered because it often comes from Kieselbachi's plexus, has a mushroom-like appearance and bleeds slightly.
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PMID:[Glomus tumor of the nose]. 1019 80

BRCA1-associated protein 1(BAP1) inactivated melanocytic nevi are pink to tan and dome-shaped in clinical appearance, resembling dermal nevi, but with distinct histologic features of two melanocytic subpopulations: larger atypical melanocytes and nests of smaller, blander nevoid melanocytes. Pedigrees with BAP1 mutations are at greater risk of various malignancies. We report the case of a 16-year-old boy with multiple benign-appearing nevi, all demonstrating loss of BAP1 on immunohistochemistry. History revealed that his father had died of paraganglioma, which is also associated with BAP1 mutations.
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PMID:Germline BRCA1-associated protein 1 mutation presenting as BAP1 inactivated melanocytic nevi in a child of a father with fatal paraganglioma. 2997 97