SM
MCID: STT007
MIFTS: 45

Steatocystoma Multiplex (SM)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Steatocystoma Multiplex

MalaCards integrated aliases for Steatocystoma Multiplex:

Name: Steatocystoma Multiplex 58 77 54 26 60 76 30 13 56 6 41 74
Sebocystomatosis 54 26 60 74
Multiple Sebaceous Cysts 54 26
Multiplex Steatocystoma 54 26
Sebaceous Cysts, Multiple 58
Sm 76

Characteristics:

Orphanet epidemiological data:

60
sebocystomatosis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
steatocystoma multiplex:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 184500
ICD10 34 L72.2
ICD10 via Orphanet 35 L72.2
UMLS via Orphanet 75 C0259771 C3671377
Orphanet 60 ORPHA841
MedGen 43 C0259771

Summaries for Steatocystoma Multiplex

NIH Rare Diseases : 54 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.

MalaCards based summary : Steatocystoma Multiplex, also known as sebocystomatosis, is related to pachyonychia congenita 1 and lichen planus. An important gene associated with Steatocystoma Multiplex is KRT17 (Keratin 17), and among its related pathways/superpathways are Circadian entrainment and Cytoskeletal Signaling. Affiliated tissues include skin, kidney and pituitary, and related phenotypes are adenoma sebaceum and steatocystoma multiplex

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.

Wikipedia : 77 Steatocystoma multiplex, is a benign, autosomal dominant congenital condition resulting in multiple... 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 261)
# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 1 30.4 KRT10 KRT16 KRT17
2 lichen planus 29.6 KRT10 KRT16
3 steatocystoma multiplex with natal teeth 12.9
4 smith-magenis syndrome 12.3
5 sm-ahnmd 12.3
6 stiff-person syndrome 11.8
7 systemic mastocytosis 11.7
8 syndromic x-linked intellectual disability snyder type 11.6
9 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.5
10 potocki-lupski syndrome 11.1
11 singleton-merten syndrome 11.1
12 horns in sheep 10.6
13 acromegaly 10.5
14 pachyonychia congenita 2 10.3
15 lupus erythematosus 10.3
16 systemic lupus erythematosus 10.3
17 mastocytosis 10.3
18 teeth present at birth 10.2
19 syringoma 10.2
20 hidradenitis suppurativa 10.2
21 hidradenitis 10.2
22 diabetes mellitus 10.2
23 leukemia 10.2
24 diarrhea 10.2
25 hypoglycemia 10.2
26 blood group, gerbich system 10.1
27 vipoma 10.1
28 adenoma 10.1
29 nail disorder, nonsyndromic congenital, 3 10.1
30 leukonychia totalis 10.1
31 retinoblastoma 10.1
32 disease of mental health 10.1
33 colon adenocarcinoma 10.1
34 adenocarcinoma 10.1
35 breast cancer 10.1
36 asthma 10.1
37 pituitary adenoma 10.1
38 connective tissue disease 10.1
39 malaria 10.1
40 palmoplantar keratoderma, bothnian type 10.0 KRT16 KRT17
41 tinea corporis 10.0 KRT16 KRT17
42 acrokeratosis verruciformis 10.0
43 alagille syndrome 1 10.0
44 epidermoid cysts 10.0
45 neutrophil migration 10.0
46 rheumatoid arthritis 10.0
47 small cell cancer of the lung 10.0
48 lung cancer 10.0
49 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
50 aceruloplasminemia 10.0

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



Diseases related to Steatocystoma Multiplex

Symptoms & Phenotypes for Steatocystoma Multiplex

Human phenotypes related to Steatocystoma Multiplex:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenoma sebaceum 60 33 hallmark (90%) Very frequent (99-80%) HP:0009720
2 steatocystoma multiplex 60 33 hallmark (90%) Very frequent (99-80%) HP:0012035
3 nephrolithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000787

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
steatocystoma multiplex
multiple, asymptomatic dermal cysts (trunk, proximal extremities, neck, axillae, inguinal region, scalp)

Head And Neck Teeth:
no natal teeth

Clinical features from OMIM:

184500

MGI Mouse Phenotypes related to Steatocystoma Multiplex:

47
# 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 30 KRT17

Anatomical Context for Steatocystoma Multiplex

MalaCards organs/tissues related to Steatocystoma Multiplex:

42
Skin, Kidney, Pituitary, Prostate, T Cells, Colon, Brain

Publications for Steatocystoma Multiplex

Articles related to Steatocystoma Multiplex:

(show top 50) (show all 174)
# Title Authors Year
1
Steatocystoma Multiplex Suppurativa: A Case with Unusual Giant Cysts over the Scalp and Neck. ( 31011316 )
2019
2
A recurrent mutation in the KRT17 gene responsible for severe steatocystoma multiplex in a large Chinese family. ( 29218738 )
2018
3
An Unusual Case of Facial Steatocystoma Multiplex: A Clinicopathologic and Dermoscopic Report. ( 29998099 )
2018
4
Treatment of steatocystoma multiplex on axillae using keyhole approach technique. ( 30325681 )
2018
5
Numerous asymptomatic dermal cysts: Diagnosis and treatment of steatocystoma multiplex. ( 30541803 )
2018
6
1927-nm fiber-optic diode laser: A novel therapeutic option for facial steatocystoma multiplex. ( 30597723 )
2018
7
A Tale of Two Cysts: Steatocystoma Multiplex and Eruptive Vellus Hair Cysts-Two Case Reports and a Review of the Literature. ( 28480085 )
2017
8
Co-occurrence of steatocystoma multiplex, eruptive vellus hair cysts, and trichofolliculomas. ( 28873115 )
2017
9
Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex. ( 27183246 )
2016
10
Steatocystoma multiplex suppurativa: case report of a rare condition. ( 28300893 )
2016
11
Polycystic kidney disease with steatocystoma multiplex: evidences for a disruptive effect of mutated polycystin-1 on keratin 17 polymerisation. ( 25111597 )
2015
12
Recurring axillary, abdominal and genitofemoral nodules and abscesses. Hereditary steatocystoma multiplex. ( 24816583 )
2015
13
Facial steatocystoma multiplex combined with eruptive vellus hair cysts: a hybrid? ( 25073410 )
2015
14
Steatocystoma multiplex with hair shaft abnormalities. ( 25808203 )
2015
15
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. ( 26165312 )
2015
16
Increased FDG uptake in scrotal steatocystoma multiplex with calcification. ( 24300354 )
2014
17
Late onset localized steatocystoma multiplex of the vulva. ( 24448142 )
2014
18
Steatocystoma multiplex as initial impression of non-small cell lung cancer with complete response to gefitinib. ( 24653640 )
2014
19
Steatocystoma multiplex associated with bilateral preauricular sinuses. ( 24666120 )
2014
20
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. ( 24842198 )
2014
21
Carbon dioxide laser perforation and extirpation of steatocystoma multiplex. ( 24852470 )
2014
22
Steatocystoma multiplex: those little tumours. ( 25632643 )
2014
23
Steatocystoma multiplex-a rare genetic disorder: a case report and review of the literature. ( 23449619 )
2013
24
Acral steatocystoma multiplex. ( 23741681 )
2013
25
A rare case of facial steatocystoma multiplex. ( 24183228 )
2013
26
A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex. ( 24371407 )
2013
27
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
28
Syringoma masquerading as steatocystoma multiplex. ( 22565440 )
2012
29
Steatocystoma multiplex: keratin 17 - the key player? ( 22639854 )
2012
30
Acral subcutaneous steatocystoma multiplex: a distinct subtype of the disease? ( 22747737 )
2012
31
Steatocystoma multiplex--an uncommon lesion with special emphasis on cytological features and cyto-histological correlation. ( 23023356 )
2012
32
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. ( 23268169 )
2012
33
Steatocystoma multiplex confined to the scalp with concurrent alopecia. ( 22148065 )
2011
34
A novel mutation (p.Arg94Gly) of keratin 17 in a Chinese family with steatocystoma multiplex. ( 21262598 )
2011
35
Case for diagnosis. Steatocystoma multiplex. ( 21437547 )
2011
36
Atypical steatocystoma multiplex with calcification. ( 22363850 )
2011
37
Steatocystoma multiplex. ( 22679266 )
2011
38
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. ( 19886955 )
2010
39
Steatocystoma multiplex, a rare distribution of a rare disease. ( 20299306 )
2010
40
Cystic nodules affecting sexual activity: a quiz. Steatocystoma multiplex. ( 20574628 )
2010
41
A modified surgical technique for steatocystoma multiplex. ( 20606990 )
2010
42
Steatocystoma multiplex generalisata partially suppurativa--case report. ( 20624362 )
2010
43
Question: Can you identify this condition? Steatocystoma multiplex. ( 20631281 )
2010
44
Er: yag laser therapy for steatocystoma multiplex. ( 21063535 )
2010
45
Linear unilateral steatocystoma multiplex. ( 18482320 )
2009
46
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. ( 19120334 )
2009
47
Perforation and extirpation of steatocystoma multiplex. ( 19261031 )
2009
48
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex. ( 19335690 )
2009
49
Giant steatocystoma multiplex limited to the scalp. ( 19456780 )
2009
50
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. ( 19470054 )
2009

Variations for Steatocystoma Multiplex

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

76
# 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.274A> C (p.Asn92His) single nucleotide variant Pathogenic rs28928896 GRCh38 Chromosome 17, 41624236: 41624236
3 KRT17 NM_000422.2(KRT17): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic rs28928897 GRCh37 Chromosome 17, 39780481: 39780481
4 KRT17 NM_000422.2(KRT17): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic rs28928897 GRCh38 Chromosome 17, 41624229: 41624229
5 KRT17 NM_000422.2(KRT17): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs58730926 GRCh37 Chromosome 17, 39780482: 39780482
6 KRT17 NM_000422.2(KRT17): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs58730926 GRCh38 Chromosome 17, 41624230: 41624230

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
12 KRT10 KRT16 KRT17
2 11.75 KRT10 KRT17
3
Show member pathways
11.25 KRT10 KRT16 KRT17
4
Show member pathways
11.19 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 cytoskeleton organization GO:0007010 9.32 KRT16 KRT17
2 epidermis development GO:0008544 9.26 KRT16 KRT17
3 keratinocyte differentiation GO:0030216 9.16 KRT10 KRT16
4 keratinization GO:0031424 9.13 KRT10 KRT16 KRT17
5 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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