MCID: STT007
MIFTS: 40

Steatocystoma Multiplex malady

Skin category

Summaries for Steatocystoma Multiplex

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 lichen planus, 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 smooth muscle, breast and skin, and related mouse phenotype 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:64 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM:47 184500

Aliases & Classifications for Steatocystoma Multiplex

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
steatocystoma multiplex:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

steatocystoma multiplex 43 20 22 21 47 45 49 61
multiple sebaceous cysts 43 21 61
sebocystomatosis 21 49
multiplex steatocystoma 21


External Ids:

OMIM47 184500
ICD10 via Orphanet26 L72.2
ICD1025 L72.2

Related Diseases for Steatocystoma Multiplex

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Steatocystoma Multiplex family:

steatocystoma multiplex with natal teeth

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
2lichen planus30.2KRT16, KRT10
3steatocystoma multiplex with natal teeth10.6
4sebocystomatosis10.5
5leukonychia totalis10.4
6hidradenitis suppurativa10.3
7syringoma10.3
8n syndrome10.3
9preauricular sinus10.3
10leopard syndrome10.2
11alagille syndrome10.2
12acrokeratosis verruciformis10.2
13alopecia10.2
14arthritis10.2
15gardner syndrome10.2
16pseudofolliculitis barbae10.2
17myospherulosis10.2
18gorlin bushkell jensen syndrome10.2
19adenocarcinoma10.0
20basal cell carcinoma10.0KRT17
21ectodermal dysplasia10.0KRT17
22dermatitis10.0KRT16
23sarcoma10.0CALB2
24keratoacanthoma10.0KRT10, KRT17
25amyloidosis10.0KRT10
26keratoderma10.0KRT16, KRT17
27pachyonychia congenita type 210.0KRT17, KRT16
28diffuse palmoplantar keratoderma, bothnian type10.0KRT17, KRT16
29palmoplantar keratoderma, epidermolytic10.0KRT17, KRT16
30keratosis10.0KRT16, KRT10
31cervical cancer10.0KRT10, KRT17
32monilethrix10.0KRT16, KRT17
33cervical intraepithelial neoplasia10.0KRT10, KRT17
34epidermolytic hyperkeratosis10.0KRT16, KRT10
35nonepidermolytic palmoplantar keratoderma10.0KRT10, KRT16
36cholesteatoma10.0KRT10, KRT16
37bowen syndrome10.0KRT16, KRT10, KRT17
38palmoplantar keratosis10.0KRT10, KRT17, KRT16
39epidermolysis bullosa simplex10.0KRT17, KRT10, KRT16
40skin disease10.0KRT10, KRT16, KRT17
41psoriasis10.0KRT16, KRT17, KRT10
42squamous cell carcinoma10.0KRT16, CALB2, KRT17, KRT10

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



Diseases related to steatocystoma multiplex

Clinical Features for Steatocystoma Multiplex

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

184500

Clinical synopsis from OMIM:

184500

Symptoms:

49 (see all 4)
  • skin tumors/lumps/epidermal cysts
  • adenoma sebaceum
  • autosomal dominant inheritance
  • urinary/renal lithiasis/kidney stones/nephritic colic

Drugs & Therapeutics for Steatocystoma Multiplex

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Steatocystoma Multiplex:

id Genetic test Affiliating Genes
1 Steatocystoma Multiplex20 22 KRT17

Anatomical Context for Steatocystoma Multiplex

Sources:
33MalaCards
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MalaCards organs/tissues related to Steatocystoma Multiplex:

33
Smooth muscle, Breast, Skin

Animal Models for Steatocystoma Multiplex or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Steatocystoma Multiplex:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5KRT17, KRT10, KRT16

Publications for Steatocystoma Multiplex

Sources:
51PubMed
See all sources

Articles related to Steatocystoma Multiplex:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
A rare case of facial steatocystoma multiplex. (24183228)
2013
2
Acral steatocystoma multiplex. (23741681)
2013
3
Syringoma masquerading as steatocystoma multiplex. (22565440)
2012
4
1,450-nm diode laser in combination with the 1550-nm fractionated erbium-doped fiber laser for the treatment of steatocystoma multiplex: a case report. (22487444)
2012
5
Er: yag laser therapy for steatocystoma multiplex. (21063535)
2010
6
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. (19886955)
2010
7
Steatocystoma multiplex, a rare distribution of a rare disease. (20299306)
2010
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
Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation. (19659471)
2009
11
Perforation and extirpation of steatocystoma multiplex. (19261031)
2009
12
Late onset of a facial variant of steatocystoma multiplex - calretinin as a specific marker of the follicular companion cell layer. (18266860)
2008
13
Steatocystoma multiplex presenting as acral subcutaneous nodules. (16874434)
2006
14
Acquired multiple pilosebaceous cysts on the face having the histopathological features of steatocystoma multiplex and eruptive vellus hair cysts. (16207191)
2005
15
Steatocystoma multiplex: mammographic and sonographic manifestations. (12490518)
2003
16
Facial steatocystoma multiplex associated with pilar cyst and bilateral preauricular sinus. (11990251)
2002
17
Late onset vulvar steatocystoma multiplex. (12372080)
2002
18
Surgical pearl: mini-incisions for the extraction of steatocystoma multiplex. (11369919)
2001
19
A simple surgical technique for the treatment of steatocystoma multiplex. (11903679)
2001
20
Acral steatocystoma multiplex. (10901733)
2000
21
Congenital linear steatocystoma multiplex of the nose. (10792805)
2000
22
Steatocystoma multiplex: a quick removal technique. (10467508)
1999
23
Steatocystoma multiplex of the breast: mammographic and sonographic findings. (9423611)
1998
24
Pachyonychia congenita associated with steatocystoma multiplex. (9714984)
1998
25
Cytologic-pathologic correlations: fine needle aspiration of three cases of steatocystoma multiplex. (9845756)
1998
26
Spherulocystic disease ("myospherulosis") arising in a lesion of steatocystoma multiplex. (9486689)
1998
27
Steatocystoma multiplex: a case with unusual clinical and histological manifestation. (9056662)
1997
28
Steatocystoma multiplex. (20944297)
1997
29
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. (9008238)
1997
30
Five generations with steatocystoma multiplex congenita: a treatment regimen. (9091916)
1997
31
Multiple papules of the scalp and forehead. Steatocystoma multiplex (facial papular variant). (7611805)
1995
32
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
33
Steatocystoma multiplex confined to the scalp. (7657444)
1995
34
A case of steatocystoma multiplex with prominent cysts on the scalp treated successfully using a simple surgical technique. (7650244)
1995
35
Intracranial paramedian hourglass-shaped dermoid associated with hereditary steatocystoma multiplex. (1521546)
1992
36
CO2 laser therapy for steatocystoma multiplex. (1809593)
1991
37
Familial steatocystoma multiplex: HLA, Gm, Km genotyping and chromosomal analysis in two unrelated families. (2766570)
1989
38
Steatocystoma multiplex treated with isotretinoin: a delayed response. (3197445)
1988
39
Eruptive vellus hair cyst and steatocystoma multiplex: two related conditions? (3351062)
1988
40
Steatocystoma multiplex. A facial papular variant. (3947127)
1986
41
Steatocystoma multiplex suppurativum: treatment with isotretinoin. (6592069)
1984
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
Treatment of lesions of steatocystoma multiplex and other epidermal cysts by cryosurgery. (7354189)
1980
45
Steatocystoma multiplex. Report of a florid case and a review. (434851)
1979
46
Steatocystoma multiplex in a dog. (739971)
1978
47
Natal teeth and steatocystoma multiplex complicated by hidradenitis suppurativa. A new syndrome. (988984)
1976
48
Steatocystoma multiplex. (962340)
1976
49
STEATOCYSTOMA MULTIPLEX: A DERMOID TUMOR. (14145861)
1964
50
Steatocystoma multiplex. (13519858)
1958

Genetic Variations for Steatocystoma Multiplex

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Steatocystoma Multiplex:

63
id Symbol AA change Variation SNP ID
1KRT17p.Asn92HisVAR_003848
2KRT17p.Arg94HisVAR_003850
3KRT17p.Met88ThrVAR_010512
4KRT17p.Arg94CysVAR_010513

Expression for genes affiliated with Steatocystoma Multiplex

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
4Cell Signaling Technology, 12EMD Millipore
See all sources

Pathways related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Steatocystoma Multiplex

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1hematoxylin459.4CALB2, KRT10
2dithranol459.3KRT10, KRT16
3calcipotriol45 60 29 1112.2KRT10, KRT16
4isotretinoin45 1110.2KRT10, KRT16
5sodium dodecylsulfate459.1KRT17, KRT16
6calcitriol45 60 11 2412.0KRT10, KRT16
71,25 dihydroxy vitamin d3458.9KRT16, KRT10
8retinoid458.7KRT16, KRT10, KRT17
9steroid458.6KRT10, KRT16, CALB2
10paraffin458.2KRT17, KRT10, KRT16, CALB2
11retinoic acid45 249.2KRT17, KRT10, KRT16

GO Terms for genes affiliated with Steatocystoma Multiplex

Sources:
16Gene Ontology
See all sources

Cellular components related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058828.5KRT17, KRT10, KRT16

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

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

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

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

Products for genes affiliated with Steatocystoma Multiplex

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Steatocystoma Multiplex

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet