MCID: STT007
MIFTS: 42

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 52 48 24 25 54 70 12 50 68
Sebocystomatosis 48 25 54 68
Multiple Sebaceous Cysts 48 24 25
 
Multiplex Steatocystoma 48 25 27
Sm 70

Characteristics:

Orphanet epidemiological data:

54
steatocystoma multiplex:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood

HPO:

64
steatocystoma multiplex:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 184500
Orphanet54 ORPHA841
ICD10 via Orphanet31 L72.2
MedGen37 C0259771
ICD1030 L72.2

Summaries for Steatocystoma Multiplex

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NIH Rare Diseases:48 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 can be caused by mutations in the KRT17 gene and is inherited in an autosomal dominant manner. Some cases are sporadic (where there are no other cases in the family). 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: 8/2/2016

MalaCards based summary: Steatocystoma Multiplex, also known as sebocystomatosis, 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 are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, lung and kidney, and related mouse phenotypes are craniofacial and digestive/alimentary.

UniProtKB/Swiss-Prot:70 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.

Genetics Home Reference:25 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:71 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM:52 184500

Related Diseases for Steatocystoma Multiplex

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1steatocystoma multiplex with natal teeth12.3
2sm-ahnmd12.0
3stiff-person syndrome11.5
4smith-magenis syndrome11.3
5gorlin bushkell jensen syndrome11.1
6potocki-lupski syndrome10.8
7mental retardation, x-linked, snyder-robinson type10.8
8singleton merten syndrome10.8
9systemic mastocytosis10.1
10mastocytosis10.1
11otosclerosis10.1KRT16, KRT17
12sclerosteosis 110.1KRT16, KRT17
13acromegaly10.0
14pachyonychia congenita 210.0KRT16, KRT17
15ichthyosis histrix, curth-macklin type10.0KRT10, KRT16
16keratosis palmoplantaris striata iii10.0KRT16, KRT17
17pancreatitis10.0
18lupus erythematosus10.0
19sinusitis10.0
20syringoma10.0
21hidradenitis10.0
22epidermolytic acanthoma10.0KRT10, KRT17
23systemic lupus erythematosus9.9
24vipoma9.9
25leukonychia totalis9.9
26metatypical basal cell carcinoma9.9KRT10, KRT17
27hemoglobin d disease9.9KRT10, KRT17
28adenoma9.9
29complex lethal osteochondrodysplasia9.9KRT10, KRT16
30leukemia9.9
31pituitary adenoma9.9
32hypertrophic or verrucous lupus erythematosus9.9KRT10, KRT16
33adenocarcinoma9.8
34colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas9.8KRT10, KRT17
35rheumatoid arthritis9.8
36lung cancer9.8
37pseudofolliculitis barbae9.8
38acrokeratosis verruciformis9.8
39alagille syndrome9.8
40alopecia9.8
41arthritis9.8
42keratoacanthoma9.8
43lichen planus9.8
44preauricular sinus9.8
45ectodermal dysplasia 4, hair/nail type9.8KRT16, KRT17
46bullous keratopathy9.8KRT10, KRT16
47epidermolysis bullosa simplex, dowling-meara type9.7KRT10, KRT16
48subacute monocytic leukemia9.6KRT10, KRT16
49lipomatosis9.6KRT10, KRT16, KRT17
50lissencephaly9.6KRT10, KRT16, KRT17

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



Diseases related to steatocystoma multiplex

Symptoms & Phenotypes for Steatocystoma Multiplex

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Symptoms by clinical synopsis from OMIM:

184500

Clinical features from OMIM:

184500

Human phenotypes related to Steatocystoma Multiplex:

 64 54
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenoma sebaceum64 54 hallmark (90%) Very frequent (99-80%) HP:0009720
2 nephrolithiasis64 54 occasional (7.5%) Occasional (29-5%) HP:0000787
3 steatocystoma multiplex64 54 Very frequent (99-80%) HP:0012035

UMLS symptoms related to Steatocystoma Multiplex:


tumor-like lesion of skin, leser-trélat sign

MGI Mouse Phenotypes related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3KRT16, KRT17, PKD1
2MP:00053818.6KRT16, KRT17, PKD1

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 Multiplex27 24 KRT17

Anatomical Context for Steatocystoma Multiplex

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MalaCards organs/tissues related to Steatocystoma Multiplex:

36
Skin, Lung, Kidney, Smooth muscle

Publications for Steatocystoma Multiplex

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Articles related to Steatocystoma Multiplex:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex. (27183246)
2016
2
Steatocystoma multiplex with hair shaft abnormalities. (25808203)
2015
3
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. (26165312)
2015
4
Recurring axillary, abdominal and genitofemoral nodules and abscesses. Hereditary steatocystoma multiplex. (24816583)
2015
5
Steatocystoma multiplex associated with bilateral preauricular sinuses. (24666120)
2014
6
Late onset localized steatocystoma multiplex of the vulva. (24448142)
2014
7
Facial steatocystoma multiplex combined with eruptive vellus hair cysts: a hybrid? (25073410)
2014
8
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. (24842198)
2014
9
Carbon dioxide laser perforation and extirpation of steatocystoma multiplex. (24852470)
2014
10
Steatocystoma multiplex as initial impression of non-small cell lung cancer with complete response to gefitinib. (24653640)
2014
11
Polycystic Kidney Disease with Steatocystoma Multiplex: Evidences for a Disruptive Effect of Mutated Polycystin-1 on Keratin 17 Polymerisation. (25111597)
2014
12
Steatocystoma multiplex: those little tumours. (25632643)
2014
13
A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex. (24371407)
2013
14
A rare case of facial steatocystoma multiplex. (24183228)
2013
15
Steatocystoma multiplex-a rare genetic disorder: a case report and review of the literature. (23449619)
2013
16
Increased FDG Uptake in Scrotal Steatocystoma Multiplex With Calcification. (24300354)
2013
17
Acral steatocystoma multiplex. (23741681)
2013
18
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. (23268169)
2012
19
Syringoma masquerading as steatocystoma multiplex. (22565440)
2012
20
Steatocystoma multiplex--an uncommon lesion with special emphasis on cytological features and cyto-histological correlation. (23023356)
2012
21
Acral subcutaneous steatocystoma multiplex: a distinct subtype of the disease? (22747737)
2012
22
Steatocystoma multiplex: keratin 17 - the key player? (22639854)
2012
23
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
24
Steatocystoma multiplex. (22679266)
2011
25
Atypical steatocystoma multiplex with calcification. (22363850)
2011
26
Case for diagnosis. Steatocystoma multiplex. (21437547)
2011
27
A novel mutation (p.Arg94Gly) of keratin 17 in a Chinese family with steatocystoma multiplex. (21262598)
2011
28
Steatocystoma multiplex confined to the scalp with concurrent alopecia. (22148065)
2011
29
Er: yag laser therapy for steatocystoma multiplex. (21063535)
2010
30
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. (19886955)
2010
31
Cystic nodules affecting sexual activity: a quiz. Steatocystoma multiplex. (20574628)
2010
32
Question: Can you identify this condition? Steatocystoma multiplex. (20631281)
2010
33
A modified surgical technique for steatocystoma multiplex. (20606990)
2010
34
Steatocystoma multiplex, a rare distribution of a rare disease. (20299306)
2010
35
Steatocystoma multiplex generalisata partially suppurativa--case report. (20624362)
2010
36
Giant steatocystoma multiplex limited to the scalp. (19456780)
2009
37
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. (19120334)
2009
38
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. (19470054)
2009
39
A case of steatocystoma multiplex limited to the scalp. (20548872)
2009
40
Perforation and extirpation of steatocystoma multiplex. (19261031)
2009
41
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex. (19335690)
2009
42
Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation. (19659471)
2009
43
Linear unilateral steatocystoma multiplex. (18482320)
2009
44
Late onset of a facial variant of steatocystoma multiplex - calretinin as a specific marker of the follicular companion cell layer. (18266860)
2008
45
Steatocystoma multiplex suppurativum. (18986448)
2008
46
Photo quiz. Case 2. Steatocystoma multiplex. (18193508)
2007
47
The vein hook successfully used for eradication of steatocystoma multiplex. (17214684)
2007
48
Steatocystoma multiplex: a report of two sporadic cases. (18306570)
2007
49
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. (16620218)
2006
50
Steatocystoma multiplex presenting as acral subcutaneous nodules. (16874434)
2006

Variations for Steatocystoma Multiplex

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

70
id Symbol AA change Variation ID SNP ID
1KRT17p.Asn92HisVAR_003848rs28928896
2KRT17p.Met88ThrVAR_010512rs28928898
3KRT17p.Arg94CysVAR_010513rs58730926

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)SNVPathogenicrs28928896GRCh37Chr 17, 39780488: 39780488
2KRT17NM_000422.2(KRT17): c.281G> A (p.Arg94His)SNVPathogenicrs28928897GRCh37Chr 17, 39780481: 39780481
3KRT17NM_000422.2(KRT17): c.280C> T (p.Arg94Cys)SNVPathogenicrs58730926GRCh37Chr 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
19.3KRT10, KRT17
2
Show member pathways
9.1KRT16, 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:00700628.5KRT10, KRT16, KRT17, PKD1
2intermediate filamentGO:00058828.5KRT10, KRT16, KRT17

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

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:00085449.7KRT16, KRT17
2keratinizationGO:00314249.6KRT16, KRT17
3keratinocyte differentiationGO:00302169.0KRT10, KRT16

Molecular functions related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.1KRT16, KRT17

Sources for Steatocystoma Multiplex

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet