MCID: PRL042
MIFTS: 32

Proliferating Trichilemmal Cyst

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Proliferating Trichilemmal Cyst

MalaCards integrated aliases for Proliferating Trichilemmal Cyst:

Name: Proliferating Trichilemmal Cyst 53 59
Proliferating Pilar Cyst 53

Characteristics:

Orphanet epidemiological data:

59
proliferating trichilemmal cyst
Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

ICD10 via Orphanet 34 L72.1
Orphanet 59 ORPHA492

Summaries for Proliferating Trichilemmal Cyst

NIH Rare Diseases : 53 Proliferating trichilemmal tumor (PTT) is a benign tumor originating from the hair follicle. Although it is a benign tumor, PTT may be locally aggressive and in very rare cases the tumor may become malignant. In most cases there is only one lesion and occur in elderly women. The tumor is not painful but sometimes they may grow very large and pressure and damage the skin around it resulting in wounds and foul-smelling discharge. About 90% of the cases are on the scalp, but they have also been found on the forehead, nose, back, chest, abdomen, buttocks, elbow, wrist and genitalia. Treatment is with surgery removing the lesion. Prognosis is good in most cases but the patient should be followed closely after surgery.

MalaCards based summary : Proliferating Trichilemmal Cyst, also known as proliferating pilar cyst, is related to basal cell carcinoma and squamous cell carcinoma. An important gene associated with Proliferating Trichilemmal Cyst is KRT18 (Keratin 18), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include skin, lymph node and breast, and related phenotypes are skin ulcer and epidermoid cyst

Related Diseases for Proliferating Trichilemmal Cyst

Diseases related to Proliferating Trichilemmal Cyst via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 29.3 KRT8 KRT7 KRT19
2 squamous cell carcinoma 10.5
3 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
4 rare tumor 10.2
5 intrahepatic bile duct adenoma 10.1 KRT7 KRT19
6 anal gland adenocarcinoma 10.1 KRT7 KRT19
7 anus adenocarcinoma 10.1 KRT7 KRT19
8 renal pelvis adenocarcinoma 10.1 KRT7 KRT19
9 epithelioid trophoblastic tumor 10.1 KRT7 KRT18
10 bladder carcinoma in situ 10.1 KRT7 KRT19
11 epidermoid cysts 10.1
12 muir-torre syndrome 10.1
13 nevus, epidermal 10.1
14 schimmelpenning-feuerstein-mims syndrome 10.1
15 spindle cell carcinoma 10.1
16 sebaceous adenocarcinoma 10.1
17 eccrine acrospiroma 10.1
18 posttransplant acute limbic encephalitis 10.1
19 malignant leydig cell tumor 10.1 KRT7 KRT19
20 eccrine adenocarcinoma 10.1 KRT7 KRT19
21 corneal abscess 10.1 KRT7 KRT19
22 metanephric adenoma 10.1 KRT7 KRT18
23 seminal vesicle tumor 10.1 KRT7 KRT18
24 anal canal adenocarcinoma 10.1 KRT7 KRT19
25 chondroid lipoma 10.1 KRT7 KRT19
26 warthin tumor 10.1 KRT7 KRT18
27 renal pelvis carcinoma 10.0 KRT7 KRT19
28 biliary papillomatosis 10.0 KRT7 KRT19
29 lipoadenoma 10.0 KRT7 KRT19
30 pericardium cancer 10.0 KRT7 KRT19
31 pericardial mesothelioma 10.0 KRT7 KRT19
32 bile duct adenocarcinoma 10.0 KRT7 KRT19
33 white sponge nevus 1 10.0 KRT7 KRT19
34 ovarian brenner tumor 10.0 KRT7 KRT18
35 bile duct disease 9.9 KRT7 KRT19
36 biliary tract disease 9.9 KRT7 KRT19
37 polycystic liver disease 1 with or without kidney cysts 9.9 KRT7 KRT19
38 idiopathic corneal edema 9.9 KRT8 KRT19
39 neurenteric cyst 9.9 KRT8 KRT18
40 cryptogenic cirrhosis 9.9 KRT8 KRT18
41 chordoma 9.9 KRT7 KRT19
42 papillary ependymoma 9.9 KRT8 KRT18
43 papillary carcinoma 9.8 KRT7 KRT19
44 polyposis, skin pigmentation, alopecia, and fingernail changes 9.8 KRT8 KRT19
45 intrahepatic cholangiocarcinoma 9.8 KRT7 KRT19
46 endolymphatic sac tumor 9.8 KRT8 KRT7
47 hidrocystoma 9.8 KRT8 KRT7
48 adenoid squamous cell carcinoma 9.8 KRT8 KRT7
49 apocrine sweat gland neoplasm 9.8 KRT8 KRT7
50 nasal cavity cancer 9.8 KRT8 KRT7

Graphical network of the top 20 diseases related to Proliferating Trichilemmal Cyst:



Diseases related to Proliferating Trichilemmal Cyst

Symptoms & Phenotypes for Proliferating Trichilemmal Cyst

Human phenotypes related to Proliferating Trichilemmal Cyst:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
2 epidermoid cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0200040
3 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209

Drugs & Therapeutics for Proliferating Trichilemmal Cyst

Search Clinical Trials , NIH Clinical Center for Proliferating Trichilemmal Cyst

Genetic Tests for Proliferating Trichilemmal Cyst

Anatomical Context for Proliferating Trichilemmal Cyst

MalaCards organs/tissues related to Proliferating Trichilemmal Cyst:

41
Skin, Lymph Node, Breast

Publications for Proliferating Trichilemmal Cyst

Articles related to Proliferating Trichilemmal Cyst:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Recurrent proliferating trichilemmal cyst of the scalp. 38
26426376 2018
2
[Malignant proliferating trichilemmal cyst of the scalp: A case report]. 38
28755831 2018
3
A proliferating trichilemmal cyst in the perianal region: A case report. 38
30408740 2018
4
Proliferating trichilemmal cyst of the mamma. 38
28734098 2017
5
Giant proliferating trichilemmal cyst arising from a nevus sebaceus growing for 30 years. 38
28419495 2017
6
[Proliferating trichilemmal cyst: An unusual presentation]. 38
28238462 2017
7
Trichilemmal Carcinoma from Proliferating Trichilemmal Cyst on the Posterior Neck. 38
28913304 2017
8
Twinkle artefact in the ultrasound diagnosis of superficial epidermoid cysts. 38
27867407 2016
9
Atypical Proliferating Trichilemmal Cyst with Malignant Breast Skin Transformation: A Case Report and Review of the Literature. 38
27403361 2016
10
Benign follicular tumors. 38
26734858 2015
11
Proliferating trichilemmal cyst with nodal enlargement mimicking metastatic squamous cell carcinoma. 38
25994896 2015
12
18F-FDG PET/CT Findings in a Patient With a Proliferating Trichilemmal Cyst. 38
25706794 2015
13
A large proliferating trichilemmal cyst masquerading as squamous cell carcinoma. 38
25657426 2015
14
Giant proliferating trichilemmal cyst. 38
25419322 2014
15
Proliferating trichilemmal cyst: the value of ki67 immunostaining. 38
24574687 2013
16
Morphological spectrum of pilar cysts. 38
23641374 2013
17
Recurrent proliferating trichilemmal tumor of the vulva: a case report. 38
23222051 2013
18
Sebaceous carcinoma of scalp with proliferating trichilemmal cyst. 38
23130291 2012
19
Malignant proliferating trichilemmal tumor. 38
22470211 2012
20
Malignant proliferating trichilemmal cyst of the scalp: histological aspects and nosology. 38
22007570 2011
21
Proliferating trichilemmal cyst of the vulva. 38
19747312 2009
22
Malignant proliferating trichilemmal cyst: a case report with review of literature. 38
19694318 2009
23
Proliferating trichilemmal cyst with focal calcification. 38
19061624 2008
24
Proliferating trichilemmal cyst associated with an epidermal nevus. 38
18181781 2008
25
Proliferating trichilemmal cyst of the eyelid. 38
17524785 2007
26
[Amelanotic malignant melanoma of the scalp clinically resembling a proliferating trichilemmal cyst]. 38
14606032 2003
27
Cutaneous cysts: a plea for systematic analysis. 38
14653038 2003
28
Carcinoma arising in a proliferating trichilemmal cyst expresses fetal and trichilemmal hair phenotype. 38
12142616 2002
29
Proliferating trichilemmal cyst: report of two cases, one benign and the other malignant. 38
12027086 2002
30
Proliferating trichilemmal cyst mimicking squamous cell carcinoma. 38
20877061 2000
31
Proliferating trichilemmal cyst with focal invasion: report of a case and a review of the literature. 38
10770443 2000
32
A trichilemmal carcinoma arising from a proliferating trichilemmal cyst: a response. 38
10029459 1999
33
[Proliferating trichilemmal cyst with focal segments of metastatic squamous epithelial carcinoma]. 38
10068931 1999
34
[Gigantic proliferating trichilemmal cyst of the scalp with central carcinoma and lymph node metastasis]. 38
9738372 1998
35
A trichilemmal carcinoma arising from a proliferating trichilemmal cyst: the loss of the wild-type p53 is a critical event in malignant transformation. 38
9490283 1998
36
Development of multiple tumors in a sebaceous nevus of Jadassohn. 38
9310725 1997
37
Distribution of lectin UEA-I in trichilemmal carcinoma, squamous cell carcinoma, and other epithelial tumors of the skin. 38
8708150 1996
38
Low frequency of loss of heterozygosity at the nevoid basal cell carcinoma locus and other selected loci in appendageal tumors. 38
8618054 1996
39
Enlarging scalp nodule. Proliferating trichilemmal cyst (PTC). 38
7778929 1995
40
Malignant proliferating trichilemmal cyst. 38
7722047 1995
41
A DNA-flow cytometric analysis of trichilemmal carcinoma, proliferating trichilemmal cyst and trichilemmal cyst. 38
7817671 1994
42
Proliferating trichilemmal cyst arising in the arm of a young woman. 38
8003800 1994
43
Proliferating trichilemmal cyst. Report of four cases, two with nondiploid DNA content and increased proliferation index. 38
8238779 1993
44
Immunohistological analysis of P53 expression in human skin tumors. 38
1419981 1992
45
Proliferating trichilemmal cyst in an organoid nevus. 38
1868744 1991
46
Proliferating trichilemmal cyst with apocrine-acrosyringeal and sebaceous differentiation. 38
1856342 1991
47
Proliferating trichilemmal cyst with spindle cell carcinoma. 38
1700885 1990
48
[What is your diagnosis? Proliferating trichilemmal cyst]. 38
2742305 1989
49
[A huge Wilson-Jones proliferating trichilemmal cyst]. 38
2619186 1989
50
[Proliferating trichilemmal cyst of the hair]. 38
2619187 1989

Variations for Proliferating Trichilemmal Cyst

Expression for Proliferating Trichilemmal Cyst

Search GEO for disease gene expression data for Proliferating Trichilemmal Cyst.

Pathways for Proliferating Trichilemmal Cyst

Pathways related to Proliferating Trichilemmal Cyst according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 KRT8 KRT7 KRT19 KRT18
2 11.95 KRT8 KRT7 KRT19 KRT18
3
Show member pathways
11.71 KRT8 KRT7 KRT19 KRT18
4
Show member pathways
10.96 KRT8 KRT7 KRT19 KRT18
5 10.8 KRT8 KRT19

GO Terms for Proliferating Trichilemmal Cyst

Cellular components related to Proliferating Trichilemmal Cyst according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.71 KRT8 KRT7 KRT19 KRT18
2 Z disc GO:0030018 9.46 KRT8 KRT19
3 sarcolemma GO:0042383 9.43 KRT8 KRT19
4 dystrophin-associated glycoprotein complex GO:0016010 9.37 KRT8 KRT19
5 keratin filament GO:0045095 9.33 KRT8 KRT7 KRT18
6 costamere GO:0043034 9.32 KRT8 KRT19
7 apicolateral plasma membrane GO:0016327 9.26 KRT8 KRT19
8 cell periphery GO:0071944 9.13 KRT8 KRT19 KRT18
9 intermediate filament GO:0005882 8.92 KRT8 KRT7 KRT19 KRT18

Biological processes related to Proliferating Trichilemmal Cyst according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.46 KRT8 KRT7 KRT19 KRT18
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.43 KRT8 KRT18
3 extrinsic apoptotic signaling pathway GO:0097191 9.4 KRT8 KRT18
4 sarcomere organization GO:0045214 9.37 KRT8 KRT19
5 hepatocyte apoptotic process GO:0097284 9.32 KRT8 KRT18
6 cell differentiation involved in embryonic placenta development GO:0060706 9.26 KRT8 KRT19
7 keratinization GO:0031424 9.26 KRT8 KRT7 KRT19 KRT18
8 cornification GO:0070268 8.92 KRT8 KRT7 KRT19 KRT18

Molecular functions related to Proliferating Trichilemmal Cyst according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 8.96 KRT8 KRT18
2 structural molecule activity GO:0005198 8.32 KRT18

Sources for Proliferating Trichilemmal Cyst

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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