PTR
MCID: PLM026
MIFTS: 46

Pilomatrixoma (PTR) malady

Summaries for Pilomatrixoma

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42NIH Rare Diseases, 21Genetics Home Reference, 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, 44Novoseek, 60UMLS, 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
Patient profile and outcome of pilomatrixoma in district general hospital in United kingdom. (24023435)
2013
2
Pilomatrixoma in a patient with bilateral retinoblastoma. (23313048)
2013
3
Pediatric parotideomasseteric pilomatrixoma in children. (24077233)
2013
4
Pilomatrixoma of the breast, a rare lesion simulating breast cancer: a case report. (24421922)
2013
5
Malignant pilomatrixoma arising on the previously irradiated face: case report and literature review. (22971309)
2012
6
Cytodiagnosis of pilomatrixoma from an uncommon site with unusual presentation. (23766616)
2012
7
Pilomatrixoma, a misdiagnosed lesion: two pediatric case reports. (22370580)
2012
8
Malherbe's Calcifying Epithelioma (Pilomatrixoma): An Uncommon Periocular Tumor. (21769234)
2011
9
Differentiation and apoptosis in pilomatrixoma. (21239898)
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
A very rare localisation of pilomatrixoma. (20429326)
2010
12
Cystic pilomatrixoma: a diagnostic challenge. (20713764)
2010
13
Recurrent malignant pilomatrixoma invading the cranial cavity: Improved local control with adjuvant radiation. (19453540)
2009
14
Giant pilomatrixoma (benign calcifying epithelioma of Malherbe) of the neck and face. (17338693)
2007
15
Pilomatrixoma of the ear helix. (17987773)
2007
16
Pilomatrixoma as a diagnostic pitfall in fine needle aspiration cytology: a case report. (17718128)
2007
17
Large, rapidly growing pilomatrixoma of the upper eyelid. (16985434)
2006
18
Fine-needle aspiration cytology of pilomatrixoma of the arm and the role of cell block examination in the diagnosis. (15584041)
2005
19
Diagnosis of pilomatrixoma in childhood. (15861101)
2005
20
Concomitant pilomatrixoma and peripheral schwannoma in a child. (15640970)
2005
21
Micro-Raman spectroscopy used to identify and grade human skin pilomatrixoma. (16228983)
2005
22
Pilomatrixoma: clinicopathologic study of 51 cases with emphasis on cytologic features. (12203865)
2002
23
Pilomatrixoma of the retroauricular area and arm. (12149720)
2002
24
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
25
Pilomatrix carcinoma: a report of a case arising from a previously excised pilomatrixoma and a review of the literature. (11174415)
2001
26
Beta-catenin expression in pilomatrixomas. Relationship with beta- catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. (11703283)
2001
27
Concurrent pilomatrix carcinoma and giant pilomatrixoma. (11309036)
2001
28
A large rapidly growing pilomatrixoma on a lower eyelid. (11202914)
2000
29
Fine needle aspiration (FNA) cytology of pilomatrixoma: report of 14 cases and review of the literature. (10458503)
1999
30
Expression of human hair keratin basic 1 in pilomatrixoma. A study of 128 cases. (10233308)
1999
31
Giant calcifying epithelioma of Malherbe (pilomatrixoma): imaging features. (9361356)
1997
32
Multiple occurrence of pilomatrixoma. (8700990)
1996
33
Head and neck pilomatrixoma. (8820190)
1996
34
Fine needle aspiration (FNA) cytology of pilomatrixoma. (9074662)
1996
35
Pilomatrixoma of the earlobe. (7712097)
1995
36
Pathological case of the month. Pilomatrixoma. (7735411)
1995
37
Pilomatrix carcinoma. A case report with immunohistochemical findings, flow cytometric comparison with benign pilomatrixoma and review of the literature. (7974805)
1994
38
Calcifying epithelioma (pilomatrixoma) of Malherbe. (8262600)
1993
39
Malignant pilomatrixoma with bone metastasis. (7993397)
1993
40
Benign cutaneous adnexal tumors in childhood and young adults, excluding pilomatrixoma: review of 28 cases and literature. (1850764)
1991
41
Pilomatrixoma of the preauricular region. (2279043)
1990
42
Fine-needle aspiration cytology of pilomatrixoma: a case report. (2209354)
1990
43
Pathologic quiz case 2. Pilomatrixoma. (3408575)
1988
44
Pilomatrixoma. Cytologic features with differential diagnostic considerations. (3827534)
1987
45
Pilomatrixoma of the head and neck in children. (3997377)
1985
46
Pilomatrixoma masquerading as a parotid mass. (4821511)
1974
47
Multifocal pilomatrixoma: part of a follicular malformation. (4665978)
1972
48
Association of pilomatrixoma (calcifying epithelioma) and basal-cell carcinoma: a case report. (5652846)
1968
49
Ultrastructure of pilomatrixoma (calcifying epithelioma). (5844161)
1965
50
Pilomatrixoma (calcifying epithelioma). (13700704)
1961

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
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47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet