MCID: PRL042
MIFTS: 37

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:

Orphanet 59 ORPHA492
ICD10 via Orphanet 34 L72.1

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 squamous cell carcinoma and nevus, epidermal. 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, lung and kidney, and related phenotypes are skin ulcer and sparse scalp hair

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 82)
# Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma 10.4
2 nevus, epidermal 10.1
3 spindle cell carcinoma 10.1
4 intrahepatic bile duct adenoma 10.0 KRT19 KRT7
5 anal gland adenocarcinoma 10.0 KRT19 KRT7
6 anus adenocarcinoma 10.0 KRT19 KRT7
7 renal pelvis adenocarcinoma 10.0 KRT19 KRT7
8 epithelioid trophoblastic tumor 10.0 KRT18 KRT7
9 bladder carcinoma in situ 10.0 KRT19 KRT7
10 malignant leydig cell tumor 10.0 KRT19 KRT7
11 corneal abscess 10.0 KRT19 KRT7
12 eccrine adenocarcinoma 10.0 KRT19 KRT7
13 anal canal adenocarcinoma 10.0 KRT19 KRT7
14 seminal vesicle tumor 10.0 KRT18 KRT7
15 metanephric adenoma 10.0 KRT18 KRT7
16 chondroid lipoma 10.0 KRT19 KRT7
17 renal pelvis carcinoma 10.0 KRT19 KRT7
18 warthin tumor 10.0 KRT18 KRT7
19 biliary papillomatosis 10.0 KRT19 KRT7
20 lipoadenoma 10.0 KRT19 KRT7
21 pericardium cancer 10.0 KRT19 KRT7
22 pericardial mesothelioma 10.0 KRT19 KRT7
23 white sponge nevus 1 10.0 KRT19 KRT7
24 bile duct adenocarcinoma 10.0 KRT19 KRT7
25 ovarian brenner tumor 10.0 KRT18 KRT7
26 bile duct disease 10.0 KRT19 KRT7
27 biliary tract disease 10.0 KRT19 KRT7
28 polycystic liver disease 1 with or without kidney cysts 10.0 KRT19 KRT7
29 idiopathic corneal edema 10.0 KRT19 KRT8
30 neurenteric cyst 10.0 KRT18 KRT8
31 cryptogenic cirrhosis 10.0 KRT18 KRT8
32 chordoma 9.9 KRT19 KRT7
33 papillary carcinoma 9.9 KRT19 KRT7
34 papillary ependymoma 9.9 KRT18 KRT8
35 polyposis, skin pigmentation, alopecia, and fingernail changes 9.9 KRT19 KRT8
36 intrahepatic cholangiocarcinoma 9.9 KRT19 KRT7
37 endolymphatic sac tumor 9.9 KRT7 KRT8
38 hidrocystoma 9.9 KRT7 KRT8
39 adenoid squamous cell carcinoma 9.9 KRT7 KRT8
40 apocrine sweat gland neoplasm 9.9 KRT7 KRT8
41 bile duct cancer 9.9 KRT19 KRT7
42 nasal cavity cancer 9.9 KRT7 KRT8
43 brooke-spiegler syndrome 9.9 KRT7 KRT8
44 prostate squamous cell carcinoma 9.9 KRT7 KRT8
45 gastrointestinal system cancer 9.9 KRT19 KRT7
46 pleomorphic carcinoma 9.9 KRT7 KRT8
47 papilloma 9.9 KRT7 KRT8
48 nasal cavity squamous cell carcinoma 9.9 KRT7 KRT8
49 atypical choroid plexus papilloma 9.9 KRT7 KRT8
50 breast secretory carcinoma 9.9 KRT7 KRT8

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 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
3 epidermal cyst 59 Very frequent (99-80%)
4 epidermoid cyst 32 hallmark (90%) HP:0200040

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.73 KRT18
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.73 KRT18
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.73 KRT8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.73 KRT18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.73 KRT8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.73 KRT7
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.73 KRT18 KRT7 KRT8
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.73 KRT7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.73 KRT18
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.73 KRT7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.53 KRT8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.53 KRT7 KRT8
13 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.53 KRT7 KRT8
14 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.53 KRT8
15 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.53 KRT7 KRT8

Drugs & Therapeutics for Proliferating Trichilemmal Cyst

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Excision Versus Punch Incision in the Treatment of Epidermal Cysts Completed NCT00165958 Phase 4

Search 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, Lung, Kidney, Liver, Prostate, Thymus

Publications for Proliferating Trichilemmal Cyst

Articles related to Proliferating Trichilemmal Cyst:

(show all 44)
# Title Authors Year
1
A proliferating trichilemmal cyst in the perianal region: A case report. ( 30408740 )
2018
2
Giant proliferating trichilemmal cyst arising from a nevus sebaceus growing for 30a88years. ( 28419495 )
2017
3
Proliferating trichilemmal cyst of the mamma. ( 28734098 )
2017
4
Trichilemmal Carcinoma from Proliferating Trichilemmal Cyst on the Posterior Neck. ( 28913304 )
2017
5
Atypical Proliferating Trichilemmal Cyst with Malignant Breast Skin Transformation: A Case Report and Review of the Literature. ( 27403361 )
2016
6
18F-FDG PET/CT Findings in a Patient With a Proliferating Trichilemmal Cyst. ( 25706794 )
2015
7
Proliferating trichilemmal cyst with nodal enlargement mimicking metastatic squamous cell carcinoma. ( 25994896 )
2015
8
Recurrent proliferating trichilemmal cyst of the scalp. Case report. ( 26426376 )
2015
9
A large proliferating trichilemmal cyst masquerading as squamous cell carcinoma. ( 25657426 )
2015
10
Giant proliferating trichilemmal cyst. ( 25419322 )
2014
11
Proliferating trichilemmal cyst: the value of ki67 immunostaining. ( 24574687 )
2013
12
Sebaceous carcinoma of scalp with proliferating trichilemmal cyst. ( 23130291 )
2012
13
Malignant proliferating trichilemmal cyst of the scalp: histological aspects and nosology. ( 22007570 )
2011
14
Proliferating trichilemmal cyst of the vulva. ( 19747312 )
2009
15
Malignant proliferating trichilemmal cyst: a case report with review of literature. ( 19694318 )
2009
16
Proliferating trichilemmal cyst with focal calcification. ( 19061624 )
2008
17
Proliferating trichilemmal cyst associated with an epidermal nevus. ( 18181781 )
2008
18
Proliferating trichilemmal cyst of the eyelid. ( 17524785 )
2007
19
Carcinoma arising in a proliferating trichilemmal cyst expresses fetal and trichilemmal hair phenotype. ( 12142616 )
2002
20
Proliferating trichilemmal cyst: report of two cases, one benign and the other malignant. ( 12027086 )
2002
21
Proliferating trichilemmal cyst mimicking squamous cell carcinoma. ( 20877061 )
2000
22
Proliferating trichilemmal cyst with focal invasion: report of a case and a review of the literature. ( 10770443 )
2000
23
A trichilemmal carcinoma arising from a proliferating trichilemmal cyst: a response. ( 10029459 )
1999
24
A trichilemmal carcinoma arising from a proliferating trichilemmal cyst: the loss of the wild-type p53 is a critical event in malignant transformation. ( 9490283 )
1998
25
Enlarging scalp nodule. Proliferating trichilemmal cyst (PTC). ( 7778929 )
1995
26
Malignant proliferating trichilemmal cyst. ( 7722047 )
1995
27
Proliferating trichilemmal cyst arising in the arm of a young woman. ( 8003800 )
1994
28
A DNA-flow cytometric analysis of trichilemmal carcinoma, proliferating trichilemmal cyst and trichilemmal cyst. ( 7817671 )
1994
29
Proliferating trichilemmal cyst. Report of four cases, two with nondiploid DNA content and increased proliferation index. ( 8238779 )
1993
30
Proliferating trichilemmal cyst in an organoid nevus. ( 1868744 )
1991
31
Proliferating trichilemmal cyst with apocrine-acrosyringeal and sebaceous differentiation. ( 1856342 )
1991
32
Proliferating trichilemmal cyst with spindle cell carcinoma. ( 1700885 )
1990
33
Unusual proliferating trichilemmal cyst. ( 3688371 )
1987
34
Proliferating trichilemmal cyst occurring on the shin. ( 2426317 )
1986
35
Development of proliferating trichilemmal cyst in organoid nevus. Presentation of two cases. ( 3950099 )
1986
36
Proliferating trichilemmal cyst: an ultrastructural study. ( 6208223 )
1984
37
Biochemical characteristics of keratins from proliferating trichilemmal cyst. ( 6206807 )
1984
38
Proliferating trichilemmal cyst. ( 6863684 )
1983
39
Development of a malignant proliferating trichilemmal cyst in a patient with multiple trichilemmal cysts. ( 6852333 )
1983
40
Proliferating Pilar Cyst. ( 28193970 )
1982
41
Pathology quiz case 1. Pilar tumor of the scalp (proliferating trichilemmal cyst). ( 7259227 )
1981
42
Proliferating trichilemmal cyst: a simulant of squamous cell carcinoma. ( 6268280 )
1981
43
Proliferating pilar cyst with spindle cell component. ( 500878 )
1979
44
Proliferating trichilemmal cyst on the back. ( 372277 )
1978

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 KRT18 KRT19 KRT7 KRT8
2 11.95 KRT18 KRT19 KRT7 KRT8
3
Show member pathways
11.71 KRT18 KRT19 KRT7 KRT8
4
Show member pathways
10.96 KRT18 KRT19 KRT7 KRT8
5 10.8 KRT19 KRT8

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 KRT18 KRT19 KRT7 KRT8
2 Z disc GO:0030018 9.46 KRT19 KRT8
3 sarcolemma GO:0042383 9.43 KRT19 KRT8
4 apicolateral plasma membrane GO:0016327 9.37 KRT19 KRT8
5 keratin filament GO:0045095 9.33 KRT18 KRT7 KRT8
6 costamere GO:0043034 9.32 KRT19 KRT8
7 dystrophin-associated glycoprotein complex GO:0016010 9.26 KRT19 KRT8
8 cell periphery GO:0071944 9.13 KRT18 KRT19 KRT8
9 intermediate filament GO:0005882 8.92 KRT18 KRT19 KRT7 KRT8

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

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 KRT18 KRT8
2 structural molecule activity GO:0005198 8.8 KRT18 KRT7 KRT8

Sources for Proliferating Trichilemmal Cyst

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74 UMLS via Orphanet
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