MCID: STT007
MIFTS: 44

Steatocystoma Multiplex

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Steatocystoma Multiplex

MalaCards integrated aliases for Steatocystoma Multiplex:

Name: Steatocystoma Multiplex 53 72 49 24 55 71 28 13 51 69
Sebocystomatosis 49 24 55 69
Multiple Sebaceous Cysts 49 24
Multiplex Steatocystoma 49 24
Sebaceous Cysts, Multiple 53
Sm 71

Characteristics:

Orphanet epidemiological data:

55
sebocystomatosis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in adolescence to early adulthood
allelic to pachyonychia congenita jackson-lawler type


HPO:

31
steatocystoma multiplex:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 184500
Orphanet 55 ORPHA841
UMLS via Orphanet 70 C0259771 C3671377
ICD10 via Orphanet 33 L72.2
MedGen 39 C0259771
ICD10 32 L72.2

Summaries for Steatocystoma Multiplex

NIH Rare Diseases : 49 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 pachyonychia congenita 2 and pachyonychia congenita 1, and has symptoms including nephrolithiasis and adenoma sebaceum. An important gene associated with Steatocystoma Multiplex is KRT17 (Keratin 17), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, lung and kidney, and related phenotypes are craniofacial and digestive/alimentary

UniProtKB/Swiss-Prot : 71 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.

Genetics Home Reference : 24 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 : 72 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM: 184500

Related Diseases for Steatocystoma Multiplex

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 2 30.4 KRT16 KRT17
2 pachyonychia congenita 1 30.0 KRT10 KRT16 KRT17
3 lichen planus 29.5 KRT10 KRT16
4 keratoacanthoma 29.3 KRT10 KRT16 KRT17
5 steatocystoma multiplex with natal teeth 12.7
6 sm-ahnmd 12.1
7 smith-magenis syndrome 12.0
8 stiff-person syndrome 11.6
9 systemic mastocytosis 11.5
10 syndromic x-linked intellectual disability snyder type 11.4
11 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.4
12 gorlin bushkell jensen syndrome 11.2
13 potocki-lupski syndrome 10.9
14 singleton-merten syndrome 10.9
15 acromegaly 10.1
16 tinea corporis 10.1 KRT16 KRT17
17 median rhomboid glossitis 10.1 KRT16 KRT17
18 palmoplantar keratoderma, epidermolytic 10.1 KRT16 KRT17
19 glossitis 10.1 KRT16 KRT17
20 pancreatitis 10.0
21 lupus erythematosus 10.0
22 systemic lupus erythematosus 10.0
23 vipoma 10.0
24 teeth present at birth 10.0
25 sinusitis 10.0
26 syringoma 10.0
27 hidradenitis suppurativa 10.0
28 hidradenitis 10.0
29 basal cell carcinoma, infundibulocystic 10.0 KRT10 KRT17
30 nail disorder, nonsyndromic congenital, 3 10.0
31 leukonychia totalis 10.0
32 large cell acanthoma 10.0 KRT10 KRT17
33 squamous cell carcinoma of the oral tongue 10.0 KRT10 KRT16
34 discoid lupus erythematosus 10.0 KRT10 KRT16
35 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
36 adenoma 10.0
37 palmoplantar keratoderma, nonepidermolytic 10.0 KRT10 KRT16
38 pinguecula 10.0 KRT10 KRT16
39 keratosis, seborrheic 9.9 KRT10 KRT17
40 leukemia 9.9
41 pituitary adenoma 9.9
42 white sponge nevus 1 9.9 KRT10 KRT16
43 monilethrix 9.9 KRT16 KRT17
44 aging 9.9
45 adenocarcinoma 9.9
46 palmoplantar keratosis 9.9 KRT10 KRT16
47 dermatitis 9.9
48 contact dermatitis 9.9
49 ichthyosis bullosa of siemens 9.9 KRT10 KRT16
50 acrokeratosis verruciformis 9.9

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



Diseases related to Steatocystoma Multiplex

Symptoms & Phenotypes for Steatocystoma Multiplex

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Teeth:
no natal teeth

Skin Nails Hair Skin:
steatocystoma multiplex
multiple, asymptomatic dermal cysts (trunk, proximal extremities, neck, axillae, inguinal region, scalp)


Clinical features from OMIM:

184500

Human phenotypes related to Steatocystoma Multiplex:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000787
2 adenoma sebaceum 55 31 hallmark (90%) Very frequent (99-80%) HP:0009720
3 steatocystoma multiplex 55 31 hallmark (90%) Very frequent (99-80%) HP:0012035

MGI Mouse Phenotypes related to Steatocystoma Multiplex:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 KRT16 KRT17 PKD1
2 digestive/alimentary MP:0005381 8.8 KRT16 KRT17 PKD1

Drugs & Therapeutics for Steatocystoma Multiplex

Search Clinical Trials , NIH Clinical Center for Steatocystoma Multiplex

Genetic Tests for Steatocystoma Multiplex

Genetic tests related to Steatocystoma Multiplex:

# Genetic test Affiliating Genes
1 Steatocystoma Multiplex 28 KRT17

Anatomical Context for Steatocystoma Multiplex

MalaCards organs/tissues related to Steatocystoma Multiplex:

38
Skin, Lung, Kidney, Smooth Muscle

Publications for Steatocystoma Multiplex

Articles related to Steatocystoma Multiplex:

(show top 50) (show all 151)
# Title Authors Year
1
A recurrent mutation in the KRT17 gene responsible for severe steatocystoma multiplex in a large Chinese family. ( 29218738 )
2018
2
A Tale of Two Cysts: Steatocystoma Multiplex and Eruptive Vellus Hair Cysts-Two Case Reports and a Review of the Literature. ( 28480085 )
2017
3
Co-occurrence of steatocystoma multiplex, eruptive vellus hair cysts, and trichofolliculomas. ( 28873115 )
2017
4
Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex. ( 27183246 )
2016
5
Steatocystoma multiplex suppurativa: case report of a rare condition. ( 28300893 )
2016
6
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. ( 26165312 )
2015
7
Steatocystoma multiplex with hair shaft abnormalities. ( 25808203 )
2015
8
Recurring axillary, abdominal and genitofemoral nodules and abscesses. Hereditary steatocystoma multiplex. ( 24816583 )
2015
9
Late onset localized steatocystoma multiplex of the vulva. ( 24448142 )
2014
10
Facial steatocystoma multiplex combined with eruptive vellus hair cysts: a hybrid? ( 25073410 )
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 associated with bilateral preauricular sinuses. ( 24666120 )
2014
13
Steatocystoma multiplex: those little tumours. ( 25632643 )
2014
14
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. ( 24842198 )
2014
15
Carbon dioxide laser perforation and extirpation of steatocystoma multiplex. ( 24852470 )
2014
16
Steatocystoma multiplex as initial impression of non-small cell lung cancer with complete response to gefitinib. ( 24653640 )
2014
17
A rare case of facial steatocystoma multiplex. ( 24183228 )
2013
18
Steatocystoma multiplex-a rare genetic disorder: a case report and review of the literature. ( 23449619 )
2013
19
Increased FDG Uptake in Scrotal Steatocystoma Multiplex With Calcification. ( 24300354 )
2013
20
Acral steatocystoma multiplex. ( 23741681 )
2013
21
A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex. ( 24371407 )
2013
22
Syringoma masquerading as steatocystoma multiplex. ( 22565440 )
2012
23
Steatocystoma multiplex: keratin 17 - the key player? ( 22639854 )
2012
24
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. ( 23268169 )
2012
25
Acral subcutaneous steatocystoma multiplex: a distinct subtype of the disease? ( 22747737 )
2012
26
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
27
Steatocystoma multiplex--an uncommon lesion with special emphasis on cytological features and cyto-histological correlation. ( 23023356 )
2012
28
Steatocystoma multiplex. ( 22679266 )
2011
29
Case for diagnosis. Steatocystoma multiplex. ( 21437547 )
2011
30
Steatocystoma multiplex confined to the scalp with concurrent alopecia. ( 22148065 )
2011
31
Atypical steatocystoma multiplex with calcification. ( 22363850 )
2011
32
A novel mutation (p.Arg94Gly) of keratin 17 in a Chinese family with steatocystoma multiplex. ( 21262598 )
2011
33
Question: Can you identify this condition? Steatocystoma multiplex. ( 20631281 )
2010
34
Cystic nodules affecting sexual activity: a quiz. Steatocystoma multiplex. ( 20574628 )
2010
35
Steatocystoma multiplex, a rare distribution of a rare disease. ( 20299306 )
2010
36
Er: yag laser therapy for steatocystoma multiplex. ( 21063535 )
2010
37
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. ( 19886955 )
2010
38
A modified surgical technique for steatocystoma multiplex. ( 20606990 )
2010
39
Steatocystoma multiplex generalisata partially suppurativa--case report. ( 20624362 )
2010
40
A case of steatocystoma multiplex limited to the scalp. ( 20548872 )
2009
41
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. ( 19120334 )
2009
42
Perforation and extirpation of steatocystoma multiplex. ( 19261031 )
2009
43
Linear unilateral steatocystoma multiplex. ( 18482320 )
2009
44
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. ( 19470054 )
2009
45
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex. ( 19335690 )
2009
46
Giant steatocystoma multiplex limited to the scalp. ( 19456780 )
2009
47
Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation. ( 19659471 )
2009
48
Steatocystoma multiplex suppurativum. ( 18986448 )
2008
49
Late onset of a facial variant of steatocystoma multiplex - calretinin as a specific marker of the follicular companion cell layer. ( 18266860 )
2008
50
Steatocystoma multiplex: a report of two sporadic cases. ( 18306570 )
2007

Variations for Steatocystoma Multiplex

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

71
# Symbol AA change Variation ID SNP ID
1 KRT17 p.Asn92His VAR_003848 rs28928896
2 KRT17 p.Met88Thr VAR_010512 rs28928898
3 KRT17 p.Arg94Cys VAR_010513 rs58730926

ClinVar genetic disease variations for Steatocystoma Multiplex:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT17 NM_000422.2(KRT17): c.274A> C (p.Asn92His) single nucleotide variant Pathogenic rs28928896 GRCh37 Chromosome 17, 39780488: 39780488
2 KRT17 NM_000422.2(KRT17): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic rs28928897 GRCh37 Chromosome 17, 39780481: 39780481
3 KRT17 NM_000422.2(KRT17): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs58730926 GRCh37 Chromosome 17, 39780482: 39780482

Expression for Steatocystoma Multiplex

Search GEO for disease gene expression data for Steatocystoma Multiplex.

Pathways for Steatocystoma Multiplex

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 KRT10 KRT16 KRT17
2
Show member pathways
10.99 KRT16 KRT17

GO Terms for Steatocystoma Multiplex

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.26 KRT10 KRT16 KRT17 PKD1
2 intermediate filament GO:0005882 8.8 KRT10 KRT16 KRT17

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

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.26 KRT16 KRT17
2 keratinocyte differentiation GO:0030216 9.16 KRT10 KRT16
3 keratinization GO:0031424 9.13 KRT10 KRT16 KRT17
4 cornification GO:0070268 8.8 KRT10 KRT16 KRT17

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.96 KRT16 KRT17
2 structural molecule activity GO:0005198 8.8 KRT10 KRT16 KRT17

Sources for Steatocystoma Multiplex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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