PTR
MCID: PLM026
MIFTS: 48

Pilomatrixoma (PTR) malady

Rare diseases, Cancer diseases categories

Summaries for Pilomatrixoma

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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. last updated: 12/1/2010

MalaCards: Pilomatrixoma, also known as pilomatricoma, is related to basal cell carcinoma and skin pilomatrix carcinoma. An important gene associated with Pilomatrixoma is CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa), and among its related pathways are Non-Canonical Wnt Pathway and Hypertrophic cardiomyopathy (HCM). The compounds palmitate and matrigel have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone.

Genetics Home Reference:22 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).

Wikipedia:66 Pilomatricoma, also known as a calcifying epithelioma of Malherbe,Malherbe calcifying epithelioma, and... more...

Description from OMIM:48 132600

Aliases & Classifications for Pilomatrixoma

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9Disease Ontology, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases


Aliases & Descriptions:

pilomatrixoma 9 44 23 22 11 63
pilomatricoma 9 44 22 46
calcifying epithelioma of malherbe 44 22
benign pilomatricoma 9 22
malherbe calcifying epithelioma 22
benign pilomatrixoma 22
ptr 44


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Disease Ontology9 DOID:5374
MeSH36 D018296
SNOMED-CT59 44155009, 274901004
NCIt41 C7368
OMIM48 132600

Related Diseases for Pilomatrixoma

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Pilomatrixoma:



Diseases related to pilomatrixoma

Symptoms for Pilomatrixoma

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48OMIM
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Clinical features from OMIM:

132600

Drugs & Therapeutics for Pilomatrixoma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Pilomatrixoma

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23GTR
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Genetic tests related to Pilomatrixoma:

id Genetic test Affiliating Genes
1 Pilomatrixoma23

Anatomical Context for Pilomatrixoma

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34MalaCards
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MalaCards organs/tissues related to Pilomatrixoma:

34
Skin, Breast, Bone, Liver, Ovary, Testis

Animal Models for Pilomatrixoma or affiliated genes

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Publications for Pilomatrixoma

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53PubMed
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Articles related to Pilomatrixoma:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Patient profile and outcome of pilomatrixoma in district general hospital in United kingdom. (24023435)
2013
2
Metastatic malignant pilomatrixoma, acanthomatous ameloblastoma, and liver tumor in a dog with polyphagia, polyuria, polydipsia, and weight loss. (24082168)
2013
3
Pilomatrixoma of the arm: a rare case with cytologic diagnosis. (23259079)
2012
4
Pilomatrixoma: an infrequently encountered lesion on the lower extremity. (23001736)
2012
5
Pilomatrixoma of eyelid in a middle aged. (21587326)
2011
6
Radiology quiz case 2. Pilomatrixoma. (21576567)
2011
7
Malherbe's Calcifying Epithelioma (Pilomatrixoma): An Uncommon Periocular Tumor. (21769234)
2011
8
Pilomatrixoma imitating infantile hemangioma. (21415649)
2011
9
Pilomatrixoma. (21874815)
2011
10
Basal cell carcinoma and pilomatrixoma mirror human follicular embryogenesis as reflected by their differential expression patterns of SOX9 and I^-catenin. (20105172)
2010
11
Pilomatrixoma in the head and neck. (19784434)
2009
12
Multiple pilomatrixoma in Turner syndrome. (19454938)
2009
13
Giant pilomatrixoma (benign calcifying epithelioma of Malherbe) of the neck and face. (17338693)
2007
14
Pilomatrixoma of the ear helix. (17987773)
2007
15
Pilomatrixoma: never lower your guard. (17580349)
2007
16
Expression of hard alpha-keratins in pilomatrixoma, craniopharyngioma, and calcifying odontogenic cyst. (15716233)
2005
17
Fine-needle aspiration cytology of pilomatrixoma of the arm and the role of cell block examination in the diagnosis. (15584041)
2005
18
Pilomatrixoma of the face: a benign skin appendage mimicking squamous cell carcinoma. (15100649)
2004
19
Pilomatrixoma of the spermatic cord. (12647919)
2002
20
Calcified pilomatrixoma of the breast: mammographic and sonographic findings. (11734941)
2001
21
Pilomatrixoma of the head and neck in children. (11700451)
2001
22
High-frequency ultrasound in the diagnosis of pilomatrixoma. (11358563)
2001
23
Surgical excision of pilomatrixoma of the head and neck: a retrospective review of 26 cases. (10485145)
1999
24
Fine needle aspiration diagnosis of pilomatrixoma. A case report. (9622704)
1998
25
Pilomatrixoma of the ovary: a rare variant of mature teratoma. (9543679)
1998
26
Multiple occurrence of pilomatrixoma. (8700990)
1996
27
Pilomatrixoma of the earlobe. (7712097)
1995
28
Pilomatrixoma: a description of two cases diagnosed by fine-needle aspiration. (7774497)
1995
29
An unusual impediment to spectacle wear: pilomatrixoma. (8562557)
1995
30
Pilomatrixoma: a common, benign childhood skin tumour. (7982152)
1994
31
Pilomatrixoma mimicking male breast carcinoma on mammography. (8456689)
1993
32
Calcifying epithelioma (pilomatrixoma) of Malherbe. (8262600)
1993
33
Pilomatrixoma as a diagnostic problem: the Edinburgh experience. (1941746)
1991
34
Fine needle aspiration diagnosis of pilomatrixoma. A monomorphic population of basaloid cells with squamous differentiation not to be mistaken for carcinoma. (1927203)
1991
35
Pilomatrixoma of the preauricular region. (2279043)
1990
36
Fine needle aspiration cytologic findings in four cases of pilomatrixoma (calcifying epithelioma of Malherbe). (1701604)
1990
37
Preauricular pilomatrixoma: a diagnostic pitfall. (2797740)
1989
38
Cytokeratin analysis of pilomatrixoma: changes in cytokeratin-type expression during differentiation. (2457633)
1988
39
Pilomatrixoma. An elusive diagnosis. (3372114)
1988
40
Pilomatrixoma mimicking breast carcinoma. (3580292)
1987
41
Immunohistochemical and ultrastructural study on pilomatrixoma. (2413188)
1985
42
Pilomatrixoma of the head and neck in children. (3997377)
1985
43
Malignant pilomatrixoma. Report of a case. (6099035)
1984
44
Malignant pilomatrixoma in an old english sheepdog. (17422343)
1983
45
Letter: Pilomatrixoma. (4828547)
1974
46
Pilomatrixoma--calcifying epithelioma (Malherbe). (4107687)
1969
47
Invasive hair matrix tumors of the scalp. Invasive pilomatrixoma. (4952818)
1966
48
Ultrastructure of pilomatrixoma (calcifying epithelioma). (5844161)
1965
49
PILOMATRIXOMA (BENIGN CALCIFYING EPITHELIOMA) OF THE EYELIDS AND EYEBROW. (14048805)
1963
50
Pilomatrixoma (calcifying epithelioma) in children. (13869281)
1962

Variations for Pilomatrixoma

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Expression for genes affiliated with Pilomatrixoma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pilomatrixoma

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Pathways for genes affiliated with Pilomatrixoma

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51PathCards, 58SinoBiological, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Pilomatrixoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6CTNNB1, LEF1
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.6CTNNB1, LEF1
39.6CTNNB1, LEF1
49.6LEF1, CTNNB1
59.6CTNNB1, LEF1
69.6CTNNB1, LEF1
79.6CTNNB1, LEF1

Compounds for genes affiliated with Pilomatrixoma

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46Novoseek
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Compounds related to Pilomatrixoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1palmitate469.7CTNNB1, CD36
2matrigel469.1CTNNB1, CD36, LEF1
3h2o2468.9CTNNB1, CD36, S100A2

GO Terms for genes affiliated with Pilomatrixoma

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17Gene Ontology
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Cellular components related to Pilomatrixoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein-DNA complexGO:0329939.6CTNNB1, LEF1

Biological processes related to Pilomatrixoma according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1epithelial to mesenchymal transitionGO:0018379.8CTNNB1, LEF1
2patterning of blood vesselsGO:0015699.7CTNNB1, LEF1
3embryonic limb morphogenesisGO:0303269.7CTNNB1, LEF1
4positive regulation of MAPK cascadeGO:0434109.6CTNNB1, CD36
5odontogenesis of dentin-containing toothGO:0424759.6LEF1, CTNNB1
6canonical Wnt signaling pathwayGO:0600709.3CTNNB1, LEF1
7negative regulation of transcription from RNA polymerase II promoterGO:0001229.2CTNNB1, CD36, LEF1

Molecular functions related to Pilomatrixoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1estrogen receptor bindingGO:0303319.3CTNNB1, LEF1
2calcium ion bindingGO:0055098.7S100A3, S100A2, TCHH

Products for genes affiliated with Pilomatrixoma

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Sources for Pilomatrixoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet