PTR
MCID: PLM026
MIFTS: 46

Pilomatrixoma (PTR) malady

Summaries for Pilomatrixoma

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 squamous 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 is Thyroid cancer. The compounds vitamin d and matrigel have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, 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:63 Pilomatricoma, also known as a calcifying epithelioma of Malherbe,Malherbe calcifying epithelioma, and... more...

Description from OMIM:46 132600

Aliases & Classifications for Pilomatrixoma

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 44Novoseek, 39NCIt, 46OMIM, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

pilomatrixoma 8 42 22 21 10 60
pilomatricoma 8 42 21 44
calcifying epithelioma of malherbe 42 21
benign pilomatricoma 8 21
malherbe calcifying epithelioma 21
benign pilomatrixoma 21
ptr 42


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Disease Ontology8 DOID:5374
NCIt39 C7368
SNOMED-CT56 44155009, 274901004
OMIM46 132600
MeSH34 D018296

Related Diseases for Pilomatrixoma

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17GeneCards, 18GeneDecks
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Diseases related to Pilomatrixoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1squamous cell carcinoma30.2KRT14, TCHH, CTNNB1, S100A2
2skin pilomatrix carcinoma30.2LEF1, HOXC13
3craniopharyngioma30.1KRT14, CTNNB1
4basal cell carcinoma30.1TCHH, CTNNB1, S100A2
5keratosis29.8CLEC2A
6alopecia29.8HOXC13, CLEC2A
7breast cancer10.1
8mature teratoma10.1
9colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.1
10myotonic dystrophy10.1
11pilomatricoma, somatic10.1
12monilethrix10.0KRT81
13epidermolytic hyperkeratosis10.0KRT81
14spiradenoma10.0CLEC2A
15cholesteatoma10.0KRT14
16epidermolysis bullosa10.0KRT14
17syringoma10.0KRT14
18papilloma10.0KRT14
19synovial sarcoma10.0CTNNB1, KRT14
20epidermolysis bullosa simplex10.0KRT14, KRT81
21hypertrophic scars10.0KRT14, CD36
22keloids10.0CD36, KRT14
23melanoma10.0S100A2, CTNNB1, CD36, LEF1, KRT14
24rubinstein-taybi syndrome9.9
25bilateral retinoblastoma9.9
26basaloid squamous cell carcinoma9.9
27follicular basal cell carcinoma9.9
28nasopharyngitis9.9
29adenocarcinoma9.9
30corneal ulcer9.9
31hemangioma9.9
32mature teratoma of the ovary9.9
33retinoblastoma9.9
34skin squamous cell carcinoma9.9
35turner syndrome9.9
3621-hydroxylase deficiency9.9
37neuroendocrine carcinoma9.9
38sotos syndrome9.9
39tuberous sclerosis9.9
40xeroderma pigmentosum9.9
41panhypopituitarism9.9
42gliomatosis cerebri9.9
43churg-strauss syndrome9.9
44adenosquamous carcinoma9.9
45hypermobility syndrome9.9
46keratoacanthoma9.9
47psoriasis9.9
48seborrheic keratosis9.9
49seminoma9.9
50kabuki syndrome9.9

Graphical network of the top 20 diseases related to Pilomatrixoma:



Diseases related to pilomatrixoma

Clinical Features for Pilomatrixoma

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46OMIM
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Clinical features from OMIM:

132600

Drugs & Therapeutics for Pilomatrixoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pilomatrixoma

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22GTR
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Genetic tests related to Pilomatrixoma:

id Genetic test Affiliating Genes
1 Pilomatrixoma22

Anatomical Context for Pilomatrixoma

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32MalaCards
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MalaCards organs/tissues related to Pilomatrixoma:

32
Skin, Breast, Bone, Liver, Ovary, Testis

Animal Models for Pilomatrixoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pilomatrixoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5KRT14, LEF1, HOXC13, CD36, CTNNB1

Publications for Pilomatrixoma

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50PubMed
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Articles related to Pilomatrixoma:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Metastatic malignant pilomatrixoma, acanthomatous ameloblastoma, and liver tumor in a dog with polyphagia, polyuria, polydipsia, and weight loss. (24082168)
2013
2
Ulcerated giant pilomatrixoma in a child. (23540592)
2013
3
An unusual presentation of giant pilomatrixoma in an adult patient. (23858343)
2013
4
Pilomatrixoma - Presented as Hypopigmented Tender Nodule: Diagnosed by FNAC: A Case Report with Review of Literature. (24082196)
2013
5
Hybrid odontogenic ghost cell tumor and cutaneous pilomatrixoma: a highly unusual coexistence. (22801122)
2012
6
Pilomatrixoma of eyelid in a middle aged. (21587326)
2011
7
Radiology quiz case 2. Pilomatrixoma. (21576567)
2011
8
Pilomatrixoma. Review of 205 cases. (20711110)
2011
9
Pediatric pilomatrixoma of the preauricular region. (20968163)
2010
10
Three cases of giant pilomatrixoma--considerations for diagnosis and treatment of giant skin tumours with abundant inner calcification present on the upper body. (20080452)
2010
11
Pilomatrixoma of the head and neck in children. (21384737)
2010
12
Pilomatrixoma: Misdiagnosed as a round cell tumor of soft tissue on fine needle aspiration cytology. (21938173)
2009
13
Pilomatrixoma in an infant: diagnostic challenges of fine-needle aspiration. (18799943)
2008
14
Pseudoglandular pattern of basaloid cells in pilomatrixoma in the needle aspiration cytology: a case report. (17474263)
2007
15
Pilomatrixoma breast mimicking carcinoma. (15857602)
2005
16
Pilomatrixoma of the face: a benign skin appendage mimicking squamous cell carcinoma. (15100649)
2004
17
A benign pilomatrixoma mimicking a skull vault tumour in a 9-month-old girl. (14635757)
2003
18
Multinodular pilomatrixoma. (11834858)
2002
19
Case 3: Multiple familial pilomatrixoma. (12139698)
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
Malignant pilomatrixoma with multiple local recurrences and distant metastases: a case report and review of the literature. (11716236)
2001
24
Fine-needle aspiration features of pilomatrixoma. (11507698)
2001
25
Two cases of pilomatrixoma in Turner's syndrome. (10640845)
1999
26
CT of pilomatrixoma in the cheek. (9726456)
1998
27
Pilomatrixoma-like visceral carcinomas. (9822938)
1998
28
Sonography in preauricular pilomatrixoma of childhood. (9041824)
1997
29
Pilomatrixoma. (20948103)
1996
30
Pilomatrixoma: a description of two cases diagnosed by fine-needle aspiration. (7774497)
1995
31
Malignant pilomatrixoma with bone metastasis. (8088728)
1994
32
Pilomatrixoma mimicking male breast carcinoma on mammography. (8456689)
1993
33
Pilomatrixoma: patient report of a common childhood tumor. (8275612)
1993
34
A case of pilomatrixoma misdiagnosed as squamous cell carcinoma. (8343593)
1993
35
Pigmented malignant pilomatrixoma: report of a case and review of the literature. (1401348)
1992
36
Pilomatrixoma: a rare condition in the differential diagnosis of a parotid swelling. (1651762)
1991
37
Preauricular pilomatrixoma: a diagnostic pitfall. (2797740)
1989
38
Aggressive pilomatrixoma in a child: a case report. (3511996)
1986
39
Malignant pilomatrixoma. Report of a case. (6099035)
1984
40
Pilomatrixoma (pilomatricoma, calcifying epithelioma of Malherbe). (6721547)
1984
41
Pilomatrixoma of the parotid in a one year old girl (calcifying epithelioma of Malherbe). (6544835)
1984
42
Calcifying epithelioma of Malherbe (pilomatrixoma) of the cheek. (6571881)
1983
43
Pilomatrixoma (calcifying epithelioma) in Sarawak. (7268457)
1981
44
Pilomatrixoma: an unusual presentation. (317140)
1979
45
Pilomatrixoma (calcifying epithelioma of malherbe). (277655)
1978
46
Pilomatrixoma. (836698)
1977
47
Giant pilomatrixoma (Malherbe calcifying epithelioma). (1244818)
1976
48
Letter: Pilomatrixoma. (4828547)
1974
49
Pilomatrixoma--calcifying epithelioma (Malherbe). (4107687)
1969
50
Pilomatrixoma (calcifying epithelioma) in children. (13869281)
1962

Genetic Variations for Pilomatrixoma

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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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29KEGG
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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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44Novoseek
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Compounds related to Pilomatrixoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d449.4KRT14, CD36, CTNNB1
2matrigel448.9LEF1, 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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet