MCID: STT007
MIFTS: 49

Steatocystoma Multiplex malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Steatocystoma Multiplex

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. the cysts may become inflamed and cause scarring when they heal. the condition is thought to be caused by mutations in the krt17 gene and appears to be inherited in an autosomal dominant manner. some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2. treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation. last updated: 6/6/2012

MalaCards: Steatocystoma Multiplex, also known as multiple sebaceous cysts, is related to pachyonychia congenita and keratoacanthoma, and has symptoms including skin tumors/lumps/epidermal cysts, adenoma sebaceum and autosomal dominant inheritance. An important gene associated with Steatocystoma Multiplex is KRT17 (keratin 17), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Keratin filaments. The compounds hematoxylin and dithranol have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and breast, and related mouse phenotypes are integument and craniofacial.

Genetics Home Reference:22 Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.

Wikipedia:66 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM:48 184500

Aliases & Classifications for Steatocystoma Multiplex

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22Genetics Home Reference, 50Orphanet, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 63UMLS, 27ICD10 via Orphanet, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
steatocystoma multiplex:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

steatocystoma multiplex 44 21 23 22 48 46 50 63
multiple sebaceous cysts 44 22 63
sebocystomatosis 22 50
multiplex steatocystoma 22


External Ids:

OMIM48 184500
ICD10 via Orphanet27 L72.2
ICD1026 L72.2

Related Diseases for Steatocystoma Multiplex

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18GeneCards, 19GeneDecks
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Diseases related to Steatocystoma Multiplex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita31.0KRT17, KRT16
2keratoacanthoma30.3KRT10, KRT17
3lichen planus30.2KRT10, KRT16
4adenocarcinoma29.9KRT10, KRT17, CALB2
5steatocystoma multiplex with natal teeth10.6
6sebocystomatosis10.5
7leukonychia totalis10.4
8hidradenitis suppurativa10.3
9syringoma10.3
10hidradenitis10.3
11alagille syndrome10.2
12acrokeratosis verruciformis10.2
13leopard syndrome10.2
14alopecia10.2
15arthritis10.2
16rheumatoid arthritis10.2
17preauricular sinus10.2
18pseudofolliculitis barbae10.2
19sinusitis10.2
20gorlin bushkell jensen syndrome10.2
21fibroma10.1CALB2
22pachyonychia congenita 210.0KRT16, KRT17
23diffuse palmoplantar keratoderma, bothnian type10.0KRT16, KRT17
24palmoplantar keratoderma, epidermolytic10.0KRT16, KRT17
25keratoderma10.0KRT17, KRT16
26monilethrix10.0KRT17, KRT16
27cervical cancer10.0KRT17, KRT10
28epidermolytic hyperkeratosis10.0KRT16, KRT10
29cervical intraepithelial neoplasia10.0KRT17, KRT10
30nonepidermolytic palmoplantar keratoderma10.0KRT10, KRT16
31keratosis10.0KRT16, KRT10
32cholesteatoma10.0KRT10, KRT16
33bowen syndrome9.9KRT10, KRT17, KRT16
34palmoplantar keratosis9.9KRT16, KRT17, KRT10
35epidermolysis bullosa simplex9.9KRT16, KRT10, KRT17
36basal cell carcinoma9.9KRT16, KRT17, KRT10
37skin disease9.9KRT17, KRT10, KRT16
38psoriasis9.9KRT16, KRT10, KRT17
39tongue squamous cell carcinoma9.9KRT10, KRT17, KRT16, CALB2

Graphical network of the top 20 diseases related to Steatocystoma Multiplex:



Diseases related to steatocystoma multiplex

Symptoms for Steatocystoma Multiplex

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

184500

Clinical features from OMIM:

184500

Symptoms:

50
  • skin tumors/lumps/epidermal cysts
  • adenoma sebaceum
  • autosomal dominant inheritance
  • urinary/renal lithiasis/kidney stones/nephritic colic

Drugs & Therapeutics for Steatocystoma Multiplex

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Steatocystoma Multiplex

Drug clinical trials:

Search ClinicalTrials for Steatocystoma Multiplex

Search NIH Clinical Center for Steatocystoma Multiplex

Search CenterWatch for Steatocystoma Multiplex

Genetic Tests for Steatocystoma Multiplex

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21GeneTests, 23GTR
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Genetic tests related to Steatocystoma Multiplex:

id Genetic test Affiliating Genes
1 Steatocystoma Multiplex21 23 KRT17

Anatomical Context for Steatocystoma Multiplex

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34MalaCards
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MalaCards organs/tissues related to Steatocystoma Multiplex:

34
Skin, Kidney, Breast, Smooth muscle

Animal Models for Steatocystoma Multiplex or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Steatocystoma Multiplex:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5KRT16, KRT10, KRT17
2MP:00053828.2KRT16, KRT10, KRT17

Publications for Steatocystoma Multiplex

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53PubMed
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Articles related to Steatocystoma Multiplex:

(show top 50)    (show all 135)
idTitleAuthorsYear
1
Increased FDG Uptake in Scrotal Steatocystoma Multiplex With Calcification. (24300354)
2013
2
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. (23268169)
2012
3
Atypical steatocystoma multiplex with calcification. (22363850)
2011
4
Er: yag laser therapy for steatocystoma multiplex. (21063535)
2010
5
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. (19886955)
2010
6
Giant steatocystoma multiplex limited to the scalp. (19456780)
2009
7
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex. (19335690)
2009
8
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. (19120334)
2009
9
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. (19470054)
2009
10
Photo quiz. Case 2. Steatocystoma multiplex. (18193508)
2007
11
The vein hook successfully used for eradication of steatocystoma multiplex. (17214684)
2007
12
Acquired multiple pilosebaceous cysts on the face having the histopathological features of steatocystoma multiplex and eruptive vellus hair cysts. (16207191)
2005
13
Suggestion for the treatment of steatocystoma multiplex located exclusively on the face. (14693025)
2004
14
Steatocystoma multiplex. (14594591)
2003
15
Facial steatocystoma multiplex associated with pilar cyst and bilateral preauricular sinus. (11990251)
2002
16
Cytokeratin expression in steatocystoma multiplex. (11952567)
2002
17
Steatocystoma multiplex suppurativum: oral isotretinoin treatment combined with cryotherapy. (10812703)
2000
18
Acral steatocystoma multiplex. (10901733)
2000
19
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (9767294)
1998
20
Persistent milia, steatocystoma multiplex and eruptive vellus hair cysts: variable expression of multiple pilosebaceous cysts within an affected family. (9669113)
1998
21
Steatocystoma multiplex of the breast: mammographic and sonographic findings. (9423611)
1998
22
Pachyonychia congenita with steatocystoma multiplex. A report of two cases and a discussion of the classification. (9649680)
1998
23
Steatocystoma multiplex localized only in the face. (9199989)
1997
24
Steatocystoma multiplex: a case with unusual clinical and histological manifestation. (9056662)
1997
25
Simultaneous occurrence of multiple trichoblastomas and steatocystoma multiplex. (9185919)
1997
26
Steatocystoma multiplex. (20944297)
1997
27
Hybrid cysts showing alternate combination of eruptive vellus hair cyst, steatocystoma multiplex, and epidermoid cyst, and an association among the three conditions. (8989942)
1996
28
Multiple papules of the scalp and forehead. Steatocystoma multiplex (facial papular variant). (7611805)
1995
29
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
30
Aspiration therapy in steatocystoma multiplex. (8420482)
1993
31
The coexistence of eruptive vellus hair cysts and steatocystoma multiplex. (1479117)
1992
32
CO2 laser therapy for steatocystoma multiplex. (1809593)
1991
33
Multiple cystic lesions. Steatocystoma multiplex. (2297243)
1990
34
Steatocystoma multiplex treated with isotretinoin: a delayed response. (3197445)
1988
35
Steatocystoma multiplex with bilateral preauricular sinuses in four generations. (3421656)
1988
36
Eruptive vellus hair cyst and steatocystoma multiplex: two related conditions? (3351062)
1988
37
Natal teeth and steatocystoma multiplex: a newly recognized syndrome. (3429608)
1987
38
CT demonstration of steatocystoma multiplex. (3950170)
1986
39
Isotretinoin in the treatment of steatocystoma multiplex: a possible adverse reaction. (3456886)
1986
40
Steatocystoma multiplex. (3740892)
1986
41
Steatocystoma multiplex. (6851639)
1983
42
Steatocystoma multiplex: anatomic reevaluation, electron microscopy, and autoradiography. (7165345)
1982
43
An ultrastructural study of steatocystoma multiplex and the normal pilosebaceous apparatus. (7037897)
1981
44
Multiple keratoacanthomas associated with steatocystoma multiplex and rheumatoid arthritis. A case report. (7406520)
1980
45
Steatocystoma multiplex. Report of a florid case and a review. (434851)
1979
46
Pachyonychia congenita and steatocystoma multiplex. (577197)
1977
47
Acrokeratosis verruciformis of Hopf with steatocystoma multiplex and hypertrophic lichen planus. (5060425)
1972
48
Steatocystoma multiplex with embryonal hair formation; case presentation and consideration of pathogenesis. (13478162)
1957
49
Steatocystoma multiplex. (18098681)
1948
50
Steatocystoma multiplex; an analysis of their contents. (20286533)
1947

Variations for Steatocystoma Multiplex

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Steatocystoma Multiplex:

65
id Symbol AA change Variation ID SNP ID
1KRT17p.Asn92HisVAR_003848
2KRT17p.Arg94HisVAR_003850
3KRT17p.Met88ThrVAR_010512
4KRT17p.Arg94CysVAR_010513

Clinvar genetic disease variations for Steatocystoma Multiplex:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRT17NM_000422.2(KRT17): c.274A> C (p.Asn92His)single nucleotide variantPathogenicrs28928896GRCh37Chr 17, 39780488: 39780488
2KRT17NM_000422.2(KRT17): c.281G> A (p.Arg94His)single nucleotide variantPathogenicrs28928897GRCh37Chr 17, 39780481: 39780481
3KRT17NM_000422.2(KRT17): c.280C> T (p.Arg94Cys)single nucleotide variantPathogenicrs58730926GRCh37Chr 17, 39780482: 39780482

Expression for genes affiliated with Steatocystoma Multiplex

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Steatocystoma Multiplex

Search GEO for disease gene expression data for Steatocystoma Multiplex.

Pathways for genes affiliated with Steatocystoma Multiplex

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51PathCards, 5Cell Signaling Technology, 61Thomson Reuters
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Pathways related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3KRT10, KRT17
29.1KRT16, KRT17

Compounds for genes affiliated with Steatocystoma Multiplex

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46Novoseek, 62Tocris Bioscience, 30IUPHAR, 12DrugBank, 25HMDB
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Compounds related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1hematoxylin469.5CALB2, KRT10
2dithranol469.3KRT16, KRT10
3calcipotriol46 62 30 1212.3KRT16, KRT10
4sodium dodecylsulfate469.2KRT16, KRT17
5isotretinoin46 1210.2KRT16, KRT10
61,25 dihydroxy vitamin d3469.1KRT16, KRT10
7calcitriol46 62 25 1211.9KRT10, KRT16
8tyrosine468.8KRT10, KRT17, CALB2
9retinoid468.8KRT17, KRT10, KRT16
10steroid468.7KRT16, KRT10, CALB2
11retinoic acid46 259.5KRT16, KRT10, KRT17
12paraffin468.3KRT16, KRT10, KRT17, CALB2
13serine468.2KRT16, KRT10, KRT17

GO Terms for genes affiliated with Steatocystoma Multiplex

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17Gene Ontology
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Cellular components related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700628.5KRT16, KRT10, KRT17
2intermediate filamentGO:0058828.2KRT16, KRT10, KRT17

Biological processes related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:0085449.1KRT16, KRT17

Molecular functions related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.1KRT16, KRT17

Products for genes affiliated with Steatocystoma Multiplex

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Steatocystoma Multiplex

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet