MCID: STT007
MIFTS: 51

Steatocystoma Multiplex malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Steatocystoma Multiplex

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NIH Rare Diseases:42 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 based summary: 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:21 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:65 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM:46 184500

Aliases & Classifications for Steatocystoma Multiplex

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Steatocystoma Multiplex, Aliases & Descriptions:

Name: Steatocystoma Multiplex 42 20 22 21 46 44 48 62
Multiple Sebaceous Cysts 42 21 62
 
Sebocystomatosis 21 48 62
Multiplex Steatocystoma 21 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
steatocystoma multiplex:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 184500
ICD10 via Orphanet26 L72.2
ICD1025 L72.2

Related Diseases for Steatocystoma Multiplex

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita31.0KRT17, KRT16
2keratoacanthoma30.4KRT10, KRT17
3lichen planus30.1KRT10, KRT16
4adenocarcinoma29.5KRT10, KRT17, CALB2
5steatocystoma multiplex with natal teeth10.6
6sebocystomatosis10.5
7leukonychia totalis10.4
8sinusitis10.3
9hidradenitis suppurativa10.3
10syringoma10.3
11hidradenitis10.3
12fibroma10.3CALB2
13alagille syndrome10.2
14alopecia10.2
15arthritis10.2
16rheumatoid arthritis10.2
17leopard syndrome10.2
18polycystic kidney disease10.2
19acrokeratosis verruciformis10.2
20kidney disease10.2
21lung cancer10.2
22preauricular sinus10.2
23pseudofolliculitis barbae10.2
24gorlin bushkell jensen syndrome10.2
25pachyonychia congenita 210.0KRT16, KRT17
26diffuse palmoplantar keratoderma, bothnian type10.0KRT16, KRT17
27palmoplantar keratoderma, epidermolytic10.0KRT16, KRT17
28keratoderma10.0KRT17, KRT16
29monilethrix10.0KRT17, KRT16
30cervical cancer10.0KRT17, KRT10
31epidermolytic hyperkeratosis9.9KRT16, KRT10
32cervical intraepithelial neoplasia9.9KRT17, KRT10
33nonepidermolytic palmoplantar keratoderma9.9KRT10, KRT16
34keratosis9.9KRT16, KRT10
35cholesteatoma9.8KRT10, KRT16
36bowen syndrome9.8KRT10, KRT17, KRT16
37palmoplantar keratosis9.8KRT16, KRT17, KRT10
38epidermolysis bullosa simplex9.8KRT16, KRT10, KRT17
39basal cell carcinoma9.8KRT16, KRT17, KRT10
40skin disease9.7KRT17, KRT10, KRT16
41psoriasis9.7KRT16, KRT10, KRT17
42tongue squamous cell carcinoma9.5KRT10, 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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Symptoms by clinical synopsis from OMIM:

184500

Clinical features from OMIM:

184500

Symptoms:

48
  • skin tumors/lumps/epidermal cysts
  • adenoma sebaceum
  • autosomal dominant inheritance
  • urinary/renal lithiasis/kidney stones/nephritic colic

HPO human phenotypes related to Steatocystoma Multiplex:

id Description Frequency HPO Source Accession
1 adenoma sebaceum hallmark (90%) HP:0009720
2 nephrolithiasis occasional (7.5%) HP:0000787
3 autosomal dominant inheritance HP:0000006
4 steatocystoma multiplex HP:0012035

Drugs & Therapeutics for Steatocystoma Multiplex

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Drug clinical trials:

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Search NIH Clinical Center for Steatocystoma Multiplex

Genetic Tests for Steatocystoma Multiplex

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Genetic tests related to Steatocystoma Multiplex:

id Genetic test Affiliating Genes
1 Steatocystoma Multiplex20 22 KRT17

Anatomical Context for Steatocystoma Multiplex

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MalaCards organs/tissues related to Steatocystoma Multiplex:

32
Skin, Kidney, Breast, Smooth muscle, Lung

Animal Models for Steatocystoma Multiplex or affiliated genes

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MGI Mouse Phenotypes related to Steatocystoma Multiplex:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5KRT16, KRT10, KRT17
2MP:00053828.2KRT16, KRT10, KRT17

Publications for Steatocystoma Multiplex

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Articles related to Steatocystoma Multiplex:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Steatocystoma multiplex associated with bilateral preauricular sinuses. (24666120)
2014
2
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. (24842198)
2014
3
Carbon dioxide laser perforation and extirpation of steatocystoma multiplex. (24852470)
2014
4
Steatocystoma multiplex as initial impression of non-small cell lung cancer with complete response to gefitinib. (24653640)
2014
5
Increased FDG Uptake in Scrotal Steatocystoma Multiplex With Calcification. (24300354)
2013
6
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. (23268169)
2012
7
Atypical steatocystoma multiplex with calcification. (22363850)
2011
8
Er: yag laser therapy for steatocystoma multiplex. (21063535)
2010
9
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. (19886955)
2010
10
Giant steatocystoma multiplex limited to the scalp. (19456780)
2009
11
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex. (19335690)
2009
12
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. (19120334)
2009
13
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. (19470054)
2009
14
Photo quiz. Case 2. Steatocystoma multiplex. (18193508)
2007
15
The vein hook successfully used for eradication of steatocystoma multiplex. (17214684)
2007
16
Acquired multiple pilosebaceous cysts on the face having the histopathological features of steatocystoma multiplex and eruptive vellus hair cysts. (16207191)
2005
17
Suggestion for the treatment of steatocystoma multiplex located exclusively on the face. (14693025)
2004
18
Facial steatocystoma multiplex associated with pilar cyst and bilateral preauricular sinus. (11990251)
2002
19
Cytokeratin expression in steatocystoma multiplex. (11952567)
2002
20
Steatocystoma multiplex suppurativum: oral isotretinoin treatment combined with cryotherapy. (10812703)
2000
21
Acral steatocystoma multiplex. (10901733)
2000
22
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (9767294)
1998
23
Persistent milia, steatocystoma multiplex and eruptive vellus hair cysts: variable expression of multiple pilosebaceous cysts within an affected family. (9669113)
1998
24
Steatocystoma multiplex of the breast: mammographic and sonographic findings. (9423611)
1998
25
Steatocystoma multiplex localized only in the face. (9199989)
1997
26
Steatocystoma multiplex: a case with unusual clinical and histological manifestation. (9056662)
1997
27
Simultaneous occurrence of multiple trichoblastomas and steatocystoma multiplex. (9185919)
1997
28
Steatocystoma multiplex. (20944297)
1997
29
Hybrid cysts showing alternate combination of eruptive vellus hair cyst, steatocystoma multiplex, and epidermoid cyst, and an association among the three conditions. (8989942)
1996
30
Multiple papules of the scalp and forehead. Steatocystoma multiplex (facial papular variant). (7611805)
1995
31
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
32
Aspiration therapy in steatocystoma multiplex. (8420482)
1993
33
CO2 laser therapy for steatocystoma multiplex. (1809593)
1991
34
Multiple cystic lesions. Steatocystoma multiplex. (2297243)
1990
35
Steatocystoma multiplex treated with isotretinoin: a delayed response. (3197445)
1988
36
Steatocystoma multiplex with bilateral preauricular sinuses in four generations. (3421656)
1988
37
Eruptive vellus hair cyst and steatocystoma multiplex: two related conditions? (3351062)
1988
38
Natal teeth and steatocystoma multiplex: a newly recognized syndrome. (3429608)
1987
39
CT demonstration of steatocystoma multiplex. (3950170)
1986
40
Isotretinoin in the treatment of steatocystoma multiplex: a possible adverse reaction. (3456886)
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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UniProtKB/Swiss-Prot genetic disease variations for Steatocystoma Multiplex:

64
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:

6
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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Expression patterns in normal tissues for genes affiliated with Steatocystoma Multiplex

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Pathways for genes affiliated with Steatocystoma Multiplex

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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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Sources:
44Novoseek, 61Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1hematoxylin449.5CALB2, KRT10
2dithranol449.3KRT16, KRT10
3calcipotriol44 61 28 1112.3KRT16, KRT10
4sodium dodecylsulfate449.2KRT16, KRT17
5isotretinoin44 1110.2KRT16, KRT10
61,25 dihydroxy vitamin d3449.1KRT16, KRT10
7calcitriol44 61 24 1111.9KRT10, KRT16
8tyrosine448.8KRT10, KRT17, CALB2
9retinoid448.8KRT17, KRT10, KRT16
10steroid448.7KRT16, KRT10, CALB2
11retinoic acid44 249.5KRT16, KRT10, KRT17
12paraffin448.3KRT16, KRT10, KRT17, CALB2
13serine448.2KRT16, KRT10, KRT17

GO Terms for genes affiliated with Steatocystoma Multiplex

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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
  • Lysates

Sources for Steatocystoma Multiplex

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet