MCID: PRL042
MIFTS: 33

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 52 58
Proliferating Pilar Cyst 52

Characteristics:

Orphanet epidemiological data:

58
proliferating trichilemmal cyst
Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 L72.1
Orphanet 58 ORPHA492

Summaries for Proliferating Trichilemmal Cyst

NIH Rare Diseases : 52 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 eccrine acrospiroma and basal 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 131)
# Related Disease Score Top Affiliating Genes
1 eccrine acrospiroma 29.7 KRT7 KRT19
2 basal cell carcinoma 29.3 KRT8 KRT7 KRT19
3 spindle cell carcinoma 28.6 KRT8 KRT7 KRT19 KRT18
4 squamous cell carcinoma 10.5
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
6 rare tumor 10.2
7 epidermoid cysts 10.1
8 muir-torre syndrome 10.1
9 nevus, epidermal 10.1
10 schimmelpenning-feuerstein-mims syndrome 10.1
11 sebaceous adenocarcinoma 10.1
12 posttransplant acute limbic encephalitis 10.1
13 neurenteric cyst 10.1 KRT8 KRT18
14 cryptogenic cirrhosis 10.1 KRT8 KRT18
15 adhesive otitis media 10.0 KRT8 KRT18
16 idiopathic corneal edema 10.0 KRT8 KRT19
17 luminal breast carcinoma a 9.9 KRT8 KRT18
18 ductal carcinoma in situ 9.9 KRT8 KRT18
19 autoimmune hepatitis 9.9 KRT8 KRT18
20 breast carcinoma in situ 9.9 KRT8 KRT19
21 endolymphatic sac tumor 9.8 KRT8 KRT7
22 subareolar duct papillomatosis 9.8 KRT8 KRT7
23 papilloma 9.8 KRT8 KRT7
24 nipple benign neoplasm 9.8 KRT8 KRT7
25 benign breast adenomyoepithelioma 9.8 KRT8 KRT7
26 lung clear cell carcinoma 9.8 KRT7 KRT18
27 synovium neoplasm 9.8 KRT8 KRT7
28 warthin tumor 9.8 KRT7 KRT18
29 teratoma 9.8 KRT7 KRT18
30 epithelioid trophoblastic tumor 9.8 KRT7 KRT18
31 apocrine sweat gland neoplasm 9.8 KRT8 KRT7
32 breast osteosarcoma 9.8 KRT8 KRT7
33 central epithelioid sarcoma 9.8 KRT7 KRT18
34 epithelioid sarcoma 9.8 KRT8 KRT7
35 vulvar proximal-type epithelioid sarcoma 9.8 KRT7 KRT18
36 cribriform carcinoma 9.8 KRT8 KRT7
37 esophageal adenosquamous carcinoma 9.8 KRT7 KRT18
38 intrahepatic cholangiocarcinoma 9.8 KRT7 KRT19
39 papillary adenocarcinoma 9.8 KRT7 KRT19
40 metanephric adenoma 9.8 KRT7 KRT18
41 intrahepatic bile duct adenoma 9.8 KRT7 KRT19
42 sweat gland benign neoplasm 9.8 KRT8 KRT7
43 bile duct adenoma 9.8 KRT7 KRT19
44 renal pelvis adenocarcinoma 9.8 KRT7 KRT19
45 myoepithelial carcinoma 9.8 KRT7 KRT18
46 vulvar apocrine adenocarcinoma 9.8 KRT7 KRT19
47 sweat gland disease 9.8 KRT8 KRT7
48 anal canal adenocarcinoma 9.8 KRT7 KRT19
49 lipoadenoma 9.8 KRT7 KRT19
50 thoracic benign neoplasm 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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
2 epidermoid cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0200040
3 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209

GenomeRNAi Phenotypes related to Proliferating Trichilemmal Cyst according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.77 KRT18
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 9.77 KRT18
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.77 KRT18
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.77 KRT18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.77 KRT8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.77 KRT18
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.77 KRT7 KRT8 KRT18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.77 KRT18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.4 KRT8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.4 KRT7 KRT8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.4 KRT8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.4 KRT7 KRT8
13 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.4 KRT8
14 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.4 KRT7
15 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.4 KRT7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.4 KRT7 KRT8
17 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.4 KRT7

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:

40
Skin, Lymph Node, Breast

Publications for Proliferating Trichilemmal Cyst

Articles related to Proliferating Trichilemmal Cyst:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Proliferating trichilemmal cyst with clinical, radiological, macroscopic, and microscopic correlation. 61
31644620 2019
2
[Malignant proliferating trichilemmal cyst of the scalp: A case report]. 61
28755831 2018
3
Recurrent proliferating trichilemmal cyst of the scalp. 61
26426376 2018
4
A proliferating trichilemmal cyst in the perianal region: A case report. 61
30408740 2018
5
Proliferating trichilemmal cyst of the mamma. 61
28734098 2017
6
Giant proliferating trichilemmal cyst arising from a nevus sebaceus growing for 30 years. 61
28419495 2017
7
[Proliferating trichilemmal cyst: An unusual presentation]. 61
28238462 2017
8
Trichilemmal Carcinoma from Proliferating Trichilemmal Cyst on the Posterior Neck. 61
28913304 2017
9
Twinkle artefact in the ultrasound diagnosis of superficial epidermoid cysts. 61
27867407 2016
10
Atypical Proliferating Trichilemmal Cyst with Malignant Breast Skin Transformation: A Case Report and Review of the Literature. 61
27403361 2016
11
Benign follicular tumors. 61
26734858 2015
12
Proliferating trichilemmal cyst with nodal enlargement mimicking metastatic squamous cell carcinoma. 61
25994896 2015
13
18F-FDG PET/CT Findings in a Patient With a Proliferating Trichilemmal Cyst. 61
25706794 2015
14
A large proliferating trichilemmal cyst masquerading as squamous cell carcinoma. 61
25657426 2015
15
Giant proliferating trichilemmal cyst. 61
25419322 2014
16
Proliferating trichilemmal cyst: the value of ki67 immunostaining. 61
24574687 2013
17
Morphological spectrum of pilar cysts. 61
23641374 2013
18
Recurrent proliferating trichilemmal tumor of the vulva: a case report. 61
23222051 2013
19
Sebaceous carcinoma of scalp with proliferating trichilemmal cyst. 61
23130291 2012
20
Malignant proliferating trichilemmal tumor. 61
22470211 2012
21
Malignant proliferating trichilemmal cyst of the scalp: histological aspects and nosology. 61
22007570 2011
22
Proliferating trichilemmal cyst of the vulva. 61
19747312 2009
23
Malignant proliferating trichilemmal cyst: a case report with review of literature. 61
19694318 2009
24
Proliferating trichilemmal cyst with focal calcification. 61
19061624 2008
25
Proliferating trichilemmal cyst associated with an epidermal nevus. 61
18181781 2008
26
Proliferating trichilemmal cyst of the eyelid. 61
17524785 2007
27
[Amelanotic malignant melanoma of the scalp clinically resembling a proliferating trichilemmal cyst]. 61
14606032 2003
28
Cutaneous cysts: a plea for systematic analysis. 61
14653038 2003
29
Carcinoma arising in a proliferating trichilemmal cyst expresses fetal and trichilemmal hair phenotype. 61
12142616 2002
30
Proliferating trichilemmal cyst: report of two cases, one benign and the other malignant. 61
12027086 2002
31
Proliferating trichilemmal cyst mimicking squamous cell carcinoma. 61
20877061 2000
32
Proliferating trichilemmal cyst with focal invasion: report of a case and a review of the literature. 61
10770443 2000
33
A trichilemmal carcinoma arising from a proliferating trichilemmal cyst: a response. 61
10029459 1999
34
[Proliferating trichilemmal cyst with focal segments of metastatic squamous epithelial carcinoma]. 61
10068931 1999
35
[Gigantic proliferating trichilemmal cyst of the scalp with central carcinoma and lymph node metastasis]. 61
9738372 1998
36
A trichilemmal carcinoma arising from a proliferating trichilemmal cyst: the loss of the wild-type p53 is a critical event in malignant transformation. 61
9490283 1998
37
Development of multiple tumors in a sebaceous nevus of Jadassohn. 61
9310725 1997
38
Distribution of lectin UEA-I in trichilemmal carcinoma, squamous cell carcinoma, and other epithelial tumors of the skin. 61
8708150 1996
39
Low frequency of loss of heterozygosity at the nevoid basal cell carcinoma locus and other selected loci in appendageal tumors. 61
8618054 1996
40
Enlarging scalp nodule. Proliferating trichilemmal cyst (PTC). 61
7778929 1995
41
Malignant proliferating trichilemmal cyst. 61
7722047 1995
42
A DNA-flow cytometric analysis of trichilemmal carcinoma, proliferating trichilemmal cyst and trichilemmal cyst. 61
7817671 1994
43
Proliferating trichilemmal cyst arising in the arm of a young woman. 61
8003800 1994
44
Proliferating trichilemmal cyst. Report of four cases, two with nondiploid DNA content and increased proliferation index. 61
8238779 1993
45
Immunohistological analysis of P53 expression in human skin tumors. 61
1419981 1992
46
Proliferating trichilemmal cyst in an organoid nevus. 61
1868744 1991
47
Proliferating trichilemmal cyst with apocrine-acrosyringeal and sebaceous differentiation. 61
1856342 1991
48
Proliferating trichilemmal cyst with spindle cell carcinoma. 61
1700885 1990
49
[A huge Wilson-Jones proliferating trichilemmal cyst]. 61
2619186 1989
50
[Proliferating trichilemmal cyst of the hair]. 61
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 11.35 KRT19 KRT18
5
Show member pathways
10.96 KRT8 KRT7 KRT19 KRT18
6 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 apicolateral plasma membrane GO:0016327 9.37 KRT8 KRT19
5 keratin filament GO:0045095 9.33 KRT8 KRT7 KRT18
6 costamere GO:0043034 9.32 KRT8 KRT19
7 dystrophin-associated glycoprotein complex GO:0016010 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 8.62 KRT8 KRT18

Sources for Proliferating Trichilemmal Cyst

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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