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PTR
MCID: PLM026
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Pilomatrixoma malady |
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Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: A pilomatrixoma is a benign (non-cancerous) skin tumor that typically occurs in the head and neck area. The tumor usually does not cause any symptoms, but it can be associated with pain. A pilomatrixoma often occurs during childhood but has been reported in individuals of all ages. It may be caused by a change (mutation) in the CTNNB1 gene. Pilomatrixomas have been reported to occur in multiple members of a family, although the pattern of inheritance has not been confirmed. Familial cases have been observed but the mode of inheritance has not been confirmed. Treatment focuses on surgical removal of the tumor. Pilomatrixomas usually occur in the absence of another condition but have been associated with some conditions including Gardner syndrome, myotonic dystrophy (especially when multiple pilomatrixomas are present), and sarcoidosis. A few cases of malignant (cancerous) pilomatrixoma have been reported.30
MalaCards: Pilomatrixoma, also known as pilomatricoma, is related to skin pilomatrix carcinoma and craniopharyngioma. An important gene associated with Pilomatrixoma is CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa), and among its related pathways is Thyroid cancer. The compound matrigel have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype vision/eye. Genetics Home Reference: Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur).17 Wikipedia: Pilomatricoma, also known as a calcifying epithelioma of Malherbe,Malherbe calcifying epithelioma, and...44 more... OMIM: 132600 |
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 8DISEASES, 43UMLS, 7diseasecard, 33OMIM, 32Novoseek , 24MeSH, 40SNOMED-CT, 27NCIt See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 132600
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for pilomatrixoma Drug clinical trials:Search ClinicalTrials for pilomatrixoma Search NIH Clinical Center for pilomatrixoma Search CenterWatch for pilomatrixoma |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to pilomatrixoma:22Skin
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Sources: 25MGI See all sources |
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Sources: 35PubMed See all sources |
Articles related to pilomatrixoma:
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Sources: 1BioGPS See all sources |
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Sources: 20KEGG See all sources |
Pathways related to pilomatrixoma according to GeneDecks:
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Sources: 32Novoseek See all sources |
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Sources: 12Gene Ontology See all sources |
Cellular components related to pilomatrixoma according to GeneDecks:
Biological processes related to pilomatrixoma according to GeneDecks:
Molecular functions related to pilomatrixoma according to GeneDecks:
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