PTR
MCID: PLM026
MIFTS: 45

Pilomatrixoma (PTR) malady

Summaries for Pilomatrixoma

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 squamous cell carcinoma. An important gene associated with Pilomatrixoma is CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa), and among its related pathways is Thyroid cancer. The compounds vitamin d and matrigel have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and liver, and related mouse phenotype vision/eye.

Genetics Home Reference:21 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:64 Pilomatricoma, also known as a calcifying epithelioma of Malherbe,Malherbe calcifying epithelioma, and... more...

Description from OMIM:47 132600

Aliases & Classifications for Pilomatrixoma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 45Novoseek, 40NCIt, 47OMIM, 35MeSH, 57SNOMED-CT
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Aliases & Descriptions:

pilomatrixoma 8 43 22 21 10 61
pilomatricoma 8 43 21 45
calcifying epithelioma of malherbe 43 21
benign pilomatricoma 8 21
malherbe calcifying epithelioma 21
benign pilomatrixoma 21
ptr 43


External Ids:

Disease Ontology8 DOID:5374
NCIt40 C7368
SNOMED-CT57 44155009, 274901004
OMIM47 132600
MeSH35 D018296

Related Diseases for Pilomatrixoma

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pilomatrixoma:



Diseases related to pilomatrixoma

Clinical Features for Pilomatrixoma

Sources:
47OMIM
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Clinical features from OMIM:

132600

Drugs & Therapeutics for Pilomatrixoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Pilomatrixoma

Drug clinical trials:

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Search CenterWatch for Pilomatrixoma

Genetic Tests for Pilomatrixoma

Sources:
22GTR
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Genetic tests related to Pilomatrixoma:

id Genetic test Affiliating Genes
1 Pilomatrixoma22

Anatomical Context for Pilomatrixoma

Sources:
33MalaCards
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MalaCards organs/tissues related to Pilomatrixoma:

33
Skin, Ovary, Liver, Breast, Testis

Animal Models for Pilomatrixoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Pilomatrixoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5KRT14, LEF1, HOXC13, CD36, CTNNB1

Publications for Pilomatrixoma

Sources:
51PubMed
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Articles related to Pilomatrixoma:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Pilomatrixoma - Presented as Hypopigmented Tender Nodule: Diagnosed by FNAC: A Case Report with Review of Literature. (24082196)
2013
2
Pilomatrixoma of the arm: a rare case with cytologic diagnosis. (23259079)
2012
3
Radiology quiz case 2. Pilomatrixoma. (21576567)
2011
4
Pilomatrixoma. (21874815)
2011
5
Pilomatrixoma of the adult male breast: a rare tumor with typical ultrasound features. (21977385)
2011
6
Pediatric pilomatrixoma of the preauricular region. (20968163)
2010
7
Pilomatrixoma mimicking breast cancer in man. (19825002)
2010
8
Pilomatrixoma of the head and neck in children. (21384737)
2010
9
Multiple pilomatrixoma in Turner syndrome. (19454938)
2009
10
Recurrent malignant pilomatrixoma invading the cranial cavity: Improved local control with adjuvant radiation. (19453540)
2009
11
Pilomatrixoma of the forearm: a case report. (19742099)
2009
12
Fine needle aspiration cytology of pilomatrixoma and differential diagnoses. (20014559)
2009
13
Pilomatrixoma of earlobe. (20300371)
2009
14
Pilomatrixoma: late onset in two periocular cases. (18209650)
2008
15
Pilomatrixoma of the ear helix. (17987773)
2007
16
Pilomatrixoma: a potential diagnostic pitfall in aspiration cytology. (17635163)
2007
17
Pilomatrixoma as a diagnostic pitfall in fine needle aspiration cytology: a case report. (17718128)
2007
18
Large, rapidly growing pilomatrixoma of the upper eyelid. (16985434)
2006
19
Expression of hard alpha-keratins in pilomatrixoma, craniopharyngioma, and calcifying odontogenic cyst. (15716233)
2005
20
Diagnosis of pilomatrixoma in childhood. (15861101)
2005
21
Aggressive pilomatrixoma of the infra-auricular area: a case report. (16198080)
2005
22
Aberrantly differentiated cells in benign pilomatrixoma reflect the normal hair follicle: immunohistochemical analysis of Ca-binding S100A2, S100A3 and S100A6 proteins. (15727645)
2005
23
Pilomatrixoma of the head and neck. (15779488)
2004
24
Giant pilomatrixoma arising in the preauricular region: a case report. (16020991)
2004
25
Uterine malignant mixed mA1llerian tumour with pilomatrixoma-like areas. (14660107)
2003
26
Multinodular pilomatrixoma. (11834858)
2002
27
Pilomatrixoma: clinicopathologic study of 51 cases with emphasis on cytologic features. (12203865)
2002
28
High-frequency ultrasound in the diagnosis of pilomatrixoma. (11358563)
2001
29
Dermoid cyst of the testis: a study of five postpubertal cases, including a pilomatrixoma-like variant, with evidence supporting its separate classification from mature testicular teratoma. (11395557)
2001
30
Pilomatrixoma in the parotid region. (11779341)
2001
31
Fine needle aspiration cytology of pilomatrixoma of the breast. (10740619)
2000
32
A large rapidly growing pilomatrixoma on a lower eyelid. (11202914)
2000
33
Pilomatrixoma of the eyelids and eyebrows in children and adolescents. (10355837)
1999
34
Pilomatrixomas in Rubinstein-Taybi syndrome. (9557902)
1998
35
Pilomatrixoma. (20948103)
1996
36
Pilomatrixoma of the earlobe. (7712097)
1995
37
Pilomatrixoma of the eyelid. (7494166)
1995
38
A case of pilomatrixoma misdiagnosed as squamous cell carcinoma. (8343593)
1993
39
Pigmented malignant pilomatrixoma: report of a case and review of the literature. (1401348)
1992
40
Pilomatrixoma: a rare condition in the differential diagnosis of a parotid swelling. (1651762)
1991
41
Benign cutaneous adnexal tumors in childhood and young adults, excluding pilomatrixoma: review of 28 cases and literature. (1850764)
1991
42
Pilomatrixoma of the preauricular region. (2279043)
1990
43
Pilomatrixoma. An elusive diagnosis. (3372114)
1988
44
Pilomatrixoma presenting as a parotid mass. (3763730)
1986
45
Immunohistochemical and ultrastructural study on pilomatrixoma. (2413188)
1985
46
Malignant pilomatrixoma. Report of a case. (6099035)
1984
47
Pilomatrixoma of the head and neck. (6490388)
1984
48
Pilomatrixoma. (836698)
1977
49
Pilomatrixoma (calcifying epithelioma of Malherbe): radiographic features. (847140)
1977
50
Pilomatrixoma (calcifying epithelioma). A statistical study. (4745286)
1973

Genetic Variations for Pilomatrixoma

Expression for genes affiliated with Pilomatrixoma

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1BioGPS, 15Gene 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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30KEGG
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Pathways related to Pilomatrixoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LEF1, CTNNB1

Compounds for genes affiliated with Pilomatrixoma

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45Novoseek
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Compounds related to Pilomatrixoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d459.4KRT14, CD36, CTNNB1
2matrigel458.9LEF1, CD36, CTNNB1

GO Terms for genes affiliated with Pilomatrixoma

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16Gene Ontology
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Cellular components related to Pilomatrixoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell peripheryGO:0719449.8KRT14, CTNNB1
2protein-DNA complexGO:0329939.4LEF1, CTNNB1

Biological processes related to Pilomatrixoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tongue morphogenesisGO:0435879.8HOXC13, CTNNB1
2embryonic limb morphogenesisGO:0303269.7LEF1, CTNNB1
3epithelial to mesenchymal transitionGO:0018379.6LEF1, CTNNB1
4patterning of blood vesselsGO:0015699.4LEF1, CTNNB1

Molecular functions related to Pilomatrixoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1estrogen receptor bindingGO:0303319.7LEF1, CTNNB1

Products for genes affiliated with Pilomatrixoma

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Sources for Pilomatrixoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet