Epidermoid Cysts disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards based summary: Epidermoid Cysts, also known as epidermoid cyst, is related to cutaneous fibrous histiocytoma and psoriasis 7. An important gene associated with Epidermoid Cysts is S100A1 (S100 Calcium Binding Protein A1), and among its related pathways/superpathways are Keratinization and Vitamin D receptor pathway. The drugs Lidocaine and Anti-Arrhythmia Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, spleen and testis, and related phenotypes are abnormality of the skin and epidermoid cyst

Wikipedia: ⁷⁵ An epidermoid cyst or epidermal inclusion cyst is a benign cyst usually found on the skin. The cyst... more...

More information from OMIM: 131600

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Related Diseases for Epidermoid Cysts

Diseases related to Epidermoid Cysts via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 552)

#	Related Disease	Score	Top Affiliating Genes
1	cutaneous fibrous histiocytoma	30.2	S100B S100A1
2	psoriasis 7	30.1	S100A5 S100A3
3	glomus tumor	30.0	S100B S100A1
4	germinoma	30.0	CGB3 APC
5	syringoma	29.9	S100B S100A1
6	granular cell tumor	29.9	S100B S100A1
7	steatocystoma multiplex	29.9	KRT6A KRT17
8	basal cell carcinoma	29.6	TCHH S100A2 KRT17 IVL
9	keratosis	29.6	TCHH KRT17 IVL
10	keratosis, seborrheic	29.5	KRT17 IVL
11	meningioma, familial	29.5	S100B S100A6 S100A5 APC
12	pachyonychia congenita 1	29.3	KRT6A KRT17 IVL
13	pilomatrixoma	29.0	TCHH S100B S100A6 S100A3 S100A2 KRT17
14	skin disease	28.6	TCHH KRT6A KRT17 IVL APC
15	pituitary dermoid and epidermoid cysts	11.4
16	familial adenomatous polyposis 1	11.3
17	follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts	11.2
18	basaloid follicular hamartoma	11.1
19	dermoid or epidermoid cyst of the central nervous system	11.1
20	teratoma	10.5
21	benign teratoma	10.4
22	dermoid cyst of ovary	10.4
23	trigeminal neuralgia	10.3
24	testicular cancer	10.3
25	aseptic meningitis	10.3
26	ptosis	10.3
27	arachnoid cysts, intracranial	10.3
28	hydrocephalus	10.3
29	conjunctival intraepithelial neoplasm	10.3	S100A2 S100A1
30	molluscum contagiosum	10.3
31	basal cell carcinoma 1	10.3
32	paraplegia	10.2
33	cholesteatoma of middle ear	10.2
34	pancreatic cancer	10.2
35	urinary tract infection	10.2
36	splenomegaly	10.2
37	paresthesia	10.2
38	adenoma	10.2
39	intracranial hypertension	10.2
40	germ cell tumor	10.2
41	breast cyst	10.1
42	hemangioma	10.1
43	chondroblastoma	10.1	S100A2 S100A1
44	bone cancer	10.1
45	myiasis	10.1
46	meningocele	10.1
47	mucocele of salivary gland	10.1
48	communicating hydrocephalus	10.1
49	squamous cell carcinoma	10.1
50	calcinosis	10.1

Graphical network of the top 20 diseases related to Epidermoid Cysts:

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Symptoms & Phenotypes for Epidermoid Cysts

Human phenotypes related to Epidermoid Cysts:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormality of the skin ³⁰			HP:0000951
2	epidermoid cyst ³⁰			HP:0200040

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skin:
epidermoid cysts

Clinical features from OMIM®:

131600 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Epidermoid Cysts

Drugs for Epidermoid Cysts (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

2

Anti-Arrhythmia Agents

Phase 4

3

Sodium Channel Blockers

Phase 4

4

Anesthetics, Local

Phase 4

5

Anesthetics

Phase 4

6

Diuretics, Potassium Sparing

Phase 4

7

Sodium tetradecyl sulfate

Approved, Investigational

Phase 2

1191-50-0, 139-88-8

5248

8

Pharmaceutical Solutions

Phase 2

9

Sclerosing Solutions

Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Use of Local Anesthetic in Intralesional Corticosteroid Injections; A Randomized, Double Blind Controlled Trial	Completed	NCT03630198	Phase 4	Corticosteroid with lidocaine;Corticosteroid with normal saline
2	Comparison of Excision Versus Punch Incision in the Treatment of Epidermal Cysts	Completed	NCT00165958	Phase 4
3	A Prospective Clinical Trial Evaluating the Efficacy of 1.5% Sodium Tetradecyl Sulfate Foam Injection for the Treatment of Epidermoid Cysts	Not yet recruiting	NCT05597995	Phase 2	Sodium Tetradecyl Sulfate
4	Atypical Intraorbital Dermoid and Epidermoid Cyst: A Single Institution Cross-sectional Retrospective Study	Completed	NCT05410431
5	Computer Aided Tool for Diagnosis of Neck Masses in Children	Recruiting	NCT05187923

Search NIH Clinical Center for Epidermoid Cysts

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Genetic Tests for Epidermoid Cysts

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Anatomical Context for Epidermoid Cysts

Organs/tissues related to Epidermoid Cysts:

MalaCards : Skin, Spleen, Testis, Spinal Cord, Pineal, Breast, Bone

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Publications for Epidermoid Cysts

Articles related to Epidermoid Cysts:

(show top 50) (show all 3986)

#	Title	Authors	PMID	Year
1	Could APC gene screening be useful in children with hepatoblastoma? Early onset of adenocarcinoma in a child with familial adenomatous polyposis and hepatoblastoma. ⁵³ ⁶²	Lazzareschi I...Riccardi R	20210251	2009
2	Human papillomavirus-associated plantar epidermoid cyst related to epidermoid metaplasia of the eccrine duct epithelium: a combined histological, immunohistochemical, DNA-DNA in situ hybridization and three-dimensional reconstruction analysis. ⁵³ ⁶²	Egawa K...Honda Y	15888153	2005
3	Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli. ⁵³ ⁶²	Blaker H...Helmke BM	15287021	2004
4	Differential expression of S100 calcium-binding proteins in epidermoid cysts, branchial cysts, craniopharyngiomas and cholesteatomas. ⁵³ ⁶²	Pelc P...Decaestecker C	12653951	2003
5	Falsely increased beta-human chorionic gonadotropin with a testicular epidermoid cyst. ⁵³ ⁶²	Mills JN...Williams RD	11696768	2001
6	Expression of keratins (K10 and K17) in steatocystoma multiplex, eruptive vellus hair cysts, and epidermoid and trichilemmal cysts. ⁵³ ⁶²	Tomkova H...Arata J	9185910	1997
7	Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. ⁵³ ⁶²	Davies DR...Warnes TW	7485167	1995
8	Epidermoid cyst of the spleen: a cytokeratin profile with comparison to other squamous epithelia. ⁵³ ⁶²	Lifschitz-Mercer B...Czernobilsky B	7514079	1994
9	An investigation of cytokeratin expression in skin epithelial cysts and some uncommon types of cystic tumours using chain-specific antibodies. ⁵³ ⁶²	Broekaert D...Coucke P	1701984	1990
10	Epidermal Cyst Mimicking Thyroid Cancer Metastasis. ⁶²	Luo L...Yao X	36469062	2023
11	Rapid malignant transformation of an intracranial epidermoid cyst: Report of a case. ⁶²	Narasimhaiah D...Poyuran R	36464491	2022
12	Atypical presentation of a subungual intraosseous epidermoid cyst of the thumb: A case report. ⁶²	Dejonghe M...Goubau J	36155831	2022
13	Establishment and Verification of a Prediction Model for Identifying Pathologic Infections Based on the Clinical Characteristics of Epidermoid Cysts. ⁶²	Ren H...Gao X	36374320	2022
14	Assessment of epidermoid cyst with trigeminal neuralgia before neuroendoscopy: A high-resolution MR study based on 3D-FIESTA and MR angiography. ⁶²	Wang L...Wang Q	35973272	2022
15	Epidermoid Cyst of the Floor of the Mouth. ⁶²	Erol B...Lacin N	34980839	2022
16	Intracranial "white" epidermoid tumours - An imaging approach and systematic review. ⁶²	Loy LM...Ho CL	35961175	2022
17	Epidermoid cyst of the cerebellar vermis: Case report of a rare medial topography. ⁶²	Diop AD...Ba S	36120520	2022
18	Imaging of intraspinal cystic lesions: A review. ⁶²	Cunha B...Conceicao C	35942824	2022
19	Intraoperative high-field resonance: How to optimize its use in our healthcare system. ⁶²	Limpo H...Tejada S	34625382	2022
20	Synchronous ovarian epidermoid cyst torsion with appendicitis in a 2.5-year-old girl: Case report. ⁶²	Maree G...Omran A	36242891	2022
21	Diffuse Large B-cell Lymphoma Presenting as an "Oops" Lesion in the Nasolabial Fold: A Case Report. ⁶²	Heo YJ...Koh HM	36437728	2022
22	Fetal Orbital Epidermal Cyst Pre-Postnatal Imaging Findings: A Case Report and Literature Review. ⁶²	Topaloglu OF...Koplay M	36453487	2022
23	Stage T3 Squamous Cell Carcinoma Misdiagnosed as an Epidermal Inclusion Cyst. ⁶²	Griffin D...Polansky M	36095254	2022
24	The reproducibility of shear wave and strain elastography in epidermal cysts. ⁶²	Kim JN...Shin H	36195316	2022
25	Epidermal inclusion cyst in male breast: how to differentiate from other male breast lesions. ⁶²	Ak M...Yurtsever N	36032200	2022
26	Nonneoplastic and noninfective cysts of the central nervous system: A histopathological study. ⁶²	Poyuran R...Narasimhaiah D	36210745	2022
27	Benign Pilomatricoma With Osseous Metaplasia: A Rare Case. ⁶²	Bhatti N...Chong W	36311481	2022
28	Primary squamous cell carcinoma of liver. First case report from Pakistan and South Asia. ⁶²	Atiq M...Dar FS	36126461	2022
29	Prepubertal-Type Testicular Tumors in Postpubertal Patients: Epidermoid Cyst and Well-Differentiated Neuroendocrine Tumor. ⁶²	Gupta S...Erickson LA	36202503	2022
30	Intracranial Epidermoid Cyst Mimics Musculoskeletal Shoulder Disease: Findings from a Case Report in Physiotherapy Clinical Practice. ⁶²	Brindisino F...Salomon M	36294171	2022
31	Large Unruptured Perineal Epidermoid Cyst: A Rare Case. ⁶²	Reddy SG...Nunna B	36381860	2022
32	[Neuroendocrine tumor associated with an intestinal cyst: a case report]. ⁶²	Ruiz Cabezas L...Gonzalez Ibanez MV	36154737	2022
33	Perirectal epidermoid cyst in a patient with sacrococcygeal scoliosis and anal sinus: A case report. ⁶²	Ji ZX...Wang D	36338219	2022
34	[Imaging findings in cranial and spinal epidermoid cysts]. ⁶²	Heckl S...Horger M	36252572	2022
35	Rare Giant Infected Intradiploic Skull Epidermoid Cysts. ⁶²	Catapano JS...Porter RW	36299917	2022
36	Epidermoid cyst in ureter: A case report. ⁶²	Jing Q...Zhang X	36123920	2022
37	Intraspinal Epidermoid Cyst with Calcification: A Case Report. ⁶²	Katayama S...Saito M	36348675	2022
38	A Hole in the Head: An Intradiploic Epidermoid Cyst With A Calvarial Defect. ⁶²	Key A...Ellison C	36054060	2022
39	Combined Exoscopic- and Endoscopic-Assisted Resection of an Interpeduncular and Middle Fossa Epidermoid Cyst via a Transcavernous Approach: Technical Note. ⁶²	Bertolini G...Cherian I	36096388	2022
40	Clinical image-postpartum clitoral epidermoid cyst. ⁶²	Oluwaferanmi E...Jha S	35380211	2022
41	Perianal sinus as a unique presentation of a recurrent presacral epidermoid cyst. ⁶²	Goswami AG...Basu S	35005826	2022
42	MRI findings of benign tumors and tumor-like diseases of the tongue with radiologic-pathologic correlation. ⁶²	Liu L...Wu H	36097236	2022
43	Epidermal Inclusion Cyst of the Clitoris: A Case Report. ⁶²	Prasad I...Dureja S	36133501	2022
44	Ultrasonographic and strain elastographic features of epidermal cyst according to body location. ⁶²	Ahn DY...Kang CH	36172630	2022
45	Atypical Presentation of Epidermoid Inclusion Cyst in a 60-Year-Old Female: A Case Report. ⁶²	Salem R...Tiesenga F	36324344	2022
46	Paleopathology of the skull of Santorio Santorio, father of modern clinical experimental physiology. ⁶²	Beck De Lotto MA...Zanatta A	36163303	2022
47	Epidermal cyst formation of the lip following autologous fat transplant. ⁶²	Monnet P...Al-Hage J	35937544	2022
48	Microcystic adnexal carcinoma misdiagnosed as a "recurrent epidermal cyst": A case report. ⁶²	Yang SX...Li FQ	36158483	2022
49	Case report: Axilla fibroadenoma - An atypical presentation. ⁶²	Virji SN...Idrees R	36045822	2022
50	Subtotal Petrosectomy With Preservation of Chorda Tympani for Petrous Bone Cholesteatoma: Case Report. ⁶²	Takata Y...Ikeda K	33064026	2022

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Genes for Epidermoid Cysts

Genes related to Epidermoid Cysts (0 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	S100A1	S100 Calcium Binding Protein A1	Protein Coding	10.48	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12653951
2	KRT17	Keratin 17	Protein Coding	7.75	Novoseek inferred ⁵³	9185910 12653736 19875094
3	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	7.05	Novoseek inferred ⁵³	16411234 15287021 7485167 (more) 20210251
4	S100A2	S100 Calcium Binding Protein A2	Protein Coding	7.02	GeneCards inferred via : Publications (show sections)
5	S100A3	S100 Calcium Binding Protein A3	Protein Coding	7.02	GeneCards inferred via : Publications (show sections)
6	S100A4	S100 Calcium Binding Protein A4	Protein Coding	7.02	GeneCards inferred via : Publications (show sections)
7	S100A5	S100 Calcium Binding Protein A5	Protein Coding	7.02	GeneCards inferred via : Publications (show sections)
8	S100A6	S100 Calcium Binding Protein A6	Protein Coding	7.02	GeneCards inferred via : Publications (show sections)
9	S100B	S100 Calcium Binding Protein B	Protein Coding	7.02	GeneCards inferred via : Publications (show sections)
10	KRT6A	Keratin 6A	Protein Coding	6.92	Novoseek inferred ⁵³	10606845
11	TCHH	Trichohyalin	Protein Coding	6.33	Novoseek inferred ⁵³	8453573
12	CGB3	Chorionic Gonadotropin Subunit Beta 3	Protein Coding	4.66	Novoseek inferred ⁵³	11696768
13	IVL	Involucrin	Protein Coding	2.17	Novoseek inferred ⁵³	15888153
14	CHKB	Choline Kinase Beta	Protein Coding	2.12	Novoseek inferred ⁵³	7514079 1701984

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Variations for Epidermoid Cysts

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Expression for Epidermoid Cysts

Search GEO for disease gene expression data for Epidermoid Cysts.

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Pathways for Epidermoid Cysts

Pathways related to Epidermoid Cysts according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.79	TCHH KRT6A KRT17 IVL
2	Vitamin D receptor pathway ⁷⁴	11.6	S100A6 S100A4 S100A2
3	Ca, cAMP and Lipid Signaling ³	11.02	S100B S100A6 S100A4 S100A1

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GO Terms for Epidermoid Cysts

Cellular components related to Epidermoid Cysts according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cornified envelope	GO:0001533	9.1	TCHH KRT17 IVL

Biological processes related to Epidermoid Cysts according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament organization	GO:0045109	9.43	TCHH KRT6A KRT17
2	morphogenesis of an epithelium	GO:0002009	9.33	KRT6A KRT17
3	keratinization	GO:0031424	9.23	TCHH KRT6A KRT17 IVL

Molecular functions related to Epidermoid Cysts according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:0005509	10.06	S100A1 S100A2 S100A3 S100A4 S100A5 S100A6
2	S100 protein binding	GO:0044548	9.73	S100B S100A6 S100A1
3	RAGE receptor binding	GO:0050786	9.62	S100B S100A4
4	transition metal ion binding	GO:0046914	9.56	TCHH S100A5 S100A4 S100A3 S100A2
5	calcium-dependent protein binding	GO:0048306	9.47	S100B S100A6 S100A5 S100A4 S100A3 S100A2

Sources

Sources for Epidermoid Cysts

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: EPD070 MIFTS: 42	Epidermoid Cysts Categories: Skin diseases	Data Licensing For inquiries, contact: [email protected]
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