MCID: STT007
MIFTS: 43

Steatocystoma Multiplex malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Steatocystoma Multiplex

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Aliases & Descriptions for Steatocystoma Multiplex:

Name: Steatocystoma Multiplex 49 11 45 22 23 47 67 65
Multiple Sebaceous Cysts 45 22 23
Multiplex Steatocystoma 23 24
 
Sebocystomatosis 23 65
Sm 67

Characteristics:

HPO:

61
steatocystoma multiplex:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 184500
MedGen34 C0259771
ICD1027 L72.2
UMLS65 C0259771, C3671377

Summaries for Steatocystoma Multiplex

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NIH Rare Diseases:45 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 steatocystoma multiplex with natal teeth and sm-ahnmd, and has symptoms including adenoma sebaceum, nephrolithiasis and steatocystoma multiplex. An important gene associated with Steatocystoma Multiplex is KRT17 (Keratin 17), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, liver and thyroid, and related mouse phenotypes are integument and craniofacial.

UniProtKB/Swiss-Prot:67 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.

Genetics Home Reference:23 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:68 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM:49 184500

Related Diseases for Steatocystoma Multiplex

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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

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 steatocystoma multiplex HP:0012035

UMLS symptoms related to Steatocystoma Multiplex:


leser-trélat sign, tumor-like lesion of skin

Drugs & Therapeutics for Steatocystoma Multiplex

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Interventional clinical trials:

Search ClinicalTrials, 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 Multiplex22 KRT17

Anatomical Context for Steatocystoma Multiplex

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MalaCards organs/tissues related to Steatocystoma Multiplex:

33
Skin, Liver, Thyroid, Brain, Prostate, Lung, Myeloid

Animal Models for Steatocystoma Multiplex or affiliated genes

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MGI Mouse Phenotypes related to Steatocystoma Multiplex:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1KRT16, KRT17, KRT6B, PKD1
2MP:00053828.1KRT16, KRT17, KRT6B, PKD1
3MP:00053817.8KRT16, KRT17, KRT6B, PKD1

Publications for Steatocystoma Multiplex

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Articles related to Steatocystoma Multiplex:

(show top 50)    (show all 151)
idTitleAuthorsYear
1
Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex. (27183246)
2016
2
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. (26165312)
2015
3
Steatocystoma multiplex associated with bilateral preauricular sinuses. (24666120)
2014
4
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. (24842198)
2014
5
Carbon dioxide laser perforation and extirpation of steatocystoma multiplex. (24852470)
2014
6
Steatocystoma multiplex as initial impression of non-small cell lung cancer with complete response to gefitinib. (24653640)
2014
7
Increased FDG Uptake in Scrotal Steatocystoma Multiplex With Calcification. (24300354)
2013
8
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. (23268169)
2012
9
Atypical steatocystoma multiplex with calcification. (22363850)
2011
10
Er: yag laser therapy for steatocystoma multiplex. (21063535)
2010
11
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. (19886955)
2010
12
Giant steatocystoma multiplex limited to the scalp. (19456780)
2009
13
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex. (19335690)
2009
14
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. (19120334)
2009
15
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. (19470054)
2009
16
Photo quiz. Case 2. Steatocystoma multiplex. (18193508)
2007
17
The vein hook successfully used for eradication of steatocystoma multiplex. (17214684)
2007
18
Acquired multiple pilosebaceous cysts on the face having the histopathological features of steatocystoma multiplex and eruptive vellus hair cysts. (16207191)
2005
19
Suggestion for the treatment of steatocystoma multiplex located exclusively on the face. (14693025)
2004
20
Facial steatocystoma multiplex associated with pilar cyst and bilateral preauricular sinus. (11990251)
2002
21
Steatocystoma multiplex suppurativum: oral isotretinoin treatment combined with cryotherapy. (10812703)
2000
22
Acral steatocystoma multiplex. (10901733)
2000
23
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (9767294)
1998
24
Persistent milia, steatocystoma multiplex and eruptive vellus hair cysts: variable expression of multiple pilosebaceous cysts within an affected family. (9669113)
1998
25
Steatocystoma multiplex of the breast: mammographic and sonographic findings. (9423611)
1998
26
Steatocystoma multiplex localized only in the face. (9199989)
1997
27
Steatocystoma multiplex: a case with unusual clinical and histological manifestation. (9056662)
1997
28
Simultaneous occurrence of multiple trichoblastomas and steatocystoma multiplex. (9185919)
1997
29
Steatocystoma multiplex. (20944297)
1997
30
Hybrid cysts showing alternate combination of eruptive vellus hair cyst, steatocystoma multiplex, and epidermoid cyst, and an association among the three conditions. (8989942)
1996
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
Aspiration therapy in steatocystoma multiplex. (8420482)
1993
34
CO2 laser therapy for steatocystoma multiplex. (1809593)
1991
35
Multiple cystic lesions. Steatocystoma multiplex. (2297243)
1990
36
Steatocystoma multiplex treated with isotretinoin: a delayed response. (3197445)
1988
37
Steatocystoma multiplex with bilateral preauricular sinuses in four generations. (3421656)
1988
38
Eruptive vellus hair cyst and steatocystoma multiplex: two related conditions? (3351062)
1988
39
Natal teeth and steatocystoma multiplex: a newly recognized syndrome. (3429608)
1987
40
CT demonstration of steatocystoma multiplex. (3950170)
1986
41
Isotretinoin in the treatment of steatocystoma multiplex: a possible adverse reaction. (3456886)
1986
42
Steatocystoma multiplex. (6851639)
1983
43
Steatocystoma multiplex: anatomic reevaluation, electron microscopy, and autoradiography. (7165345)
1982
44
An ultrastructural study of steatocystoma multiplex and the normal pilosebaceous apparatus. (7037897)
1981
45
Steatocystoma multiplex. Report of a florid case and a review. (434851)
1979
46
Pachyonychia congenita and steatocystoma multiplex. (577197)
1977
47
Steatocystoma multiplex with embryonal hair formation; case presentation and consideration of pathogenesis. (13478162)
1957
48
Steatocystoma multiplex. (18098681)
1948
49
Steatocystoma multiplex; an analysis of their contents. (20286533)
1947
50

Variations for Steatocystoma Multiplex

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UniProtKB/Swiss-Prot genetic disease variations for Steatocystoma Multiplex:

67
id Symbol AA change Variation ID SNP ID
1KRT17p.Asn92HisVAR_003848
2KRT17p.Met88ThrVAR_010512
3KRT17p.Arg94CysVAR_010513

Clinvar genetic disease variations for Steatocystoma Multiplex:

5
id Gene Variation 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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Search GEO for disease gene expression data for Steatocystoma Multiplex.

Pathways for genes affiliated with Steatocystoma Multiplex

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Pathways related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4KRT16, KRT17

GO Terms for genes affiliated with Steatocystoma Multiplex

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Cellular components related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular exosomeGO:00700628.6KRT10, KRT6B, PKD1

Biological processes related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:00085449.4KRT16, KRT17

Sources for Steatocystoma Multiplex

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet