SM
MCID: STT007
MIFTS: 44

Steatocystoma Multiplex (SM)

Categories: Endocrine diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Steatocystoma Multiplex

MalaCards integrated aliases for Steatocystoma Multiplex:

Name: Steatocystoma Multiplex 57 12 73 20 43 58 72 29 13 54 6 15 39 70 32
Sebocystomatosis 12 73 20 43 58 70
Multiple Sebaceous Cysts 12 20 43
Multiplex Steatocystoma 20 43
Sebaceous Cysts, Multiple 57
Sm 72

Characteristics:

Orphanet epidemiological data:

58
sebocystomatosis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood;

OMIM®:

57 (Updated 20-May-2021)
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: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111556
OMIM® 57 184500
ICD10 32 L72.2
ICD10 via Orphanet 33 L72.2
UMLS via Orphanet 71 C0259771 C3671377
Orphanet 58 ORPHA841
MedGen 41 C0259771
UMLS 70 C0259771 C3671377

Summaries for Steatocystoma Multiplex

GARD : 20 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 2 and epidermoid cysts. An important gene associated with Steatocystoma Multiplex is KRT17 (Keratin 17), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include kidney, lung and skin, and related phenotypes are adenoma sebaceum and steatocystoma multiplex

Disease Ontology : 12 A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has material basis in heterozygous mutation in KRT17 on chromosome 17q21.2.

MedlinePlus Genetics : 43 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.In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.

UniProtKB/Swiss-Prot : 72 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.

Wikipedia : 73 Steatocystoma multiplex, is a benign, autosomal dominant congenital condition resulting in multiple... more...

More information 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 90)
# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 2 30.5 KRT6B KRT17 KRT16
2 epidermoid cysts 30.4 KRT6A KRT17
3 polycystic liver disease 1 with or without kidney cysts 30.3 PKD1 KRT17
4 discoid lupus erythematosus 30.1 KRT16 KRT10
5 lichen planus 30.1 KRT16 KRT10
6 keratoacanthoma 30.0 KRT17 KRT16 KRT10
7 keratosis 29.9 KRT86 KRT17 KRT16 KRT10
8 skin disease 29.8 KRT6A KRT17 KRT16 KRT10
9 pachyonychia congenita 1 29.3 KRT86 KRT6B KRT6A KRT2 KRT17 KRT16
10 palmoplantar keratosis 29.3 KRT6B KRT6A KRT17 KRT16 KRT10
11 ichthyosis 29.1 KRT86 KRT2 KRT17 KRT16 KRT10
12 steatocystoma multiplex with natal teeth 11.8
13 hidradenitis 10.5
14 hidradenitis suppurativa 10.4
15 teeth present at birth 10.3
16 acne 10.3
17 acanthoma 10.2 KRT17 KRT10
18 large cell acanthoma 10.2 KRT17 KRT10
19 dowling-degos disease 1 10.2
20 syringoma 10.2
21 nail disorder, nonsyndromic congenital, 3 10.2
22 eccrine acrospiroma 10.2 KRT17 KRT10
23 eccrine sweat gland neoplasm 10.2 KRT17 KRT10
24 bowen's disease 10.2 KRT16 KRT10
25 pinguecula 10.1 KRT16 KRT10
26 tinea corporis 10.1 KRT17 KRT16
27 hair follicle neoplasm 10.1 KRT17 KRT10
28 acrokeratosis verruciformis 10.1
29 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
30 ectodermal dysplasia 10.1
31 hypotrichosis 10.1
32 alopecia 10.1
33 keratinopathic ichthyosis 10.1 KRT2 KRT10
34 fissured tongue 10.1 KRT6A KRT16
35 epidermolytic acanthoma 10.1 KRT2 KRT10
36 ichthyosis bullosa of siemens 10.1 KRT2 KRT10
37 keratosis, seborrheic 10.1 KRT17 KRT10
38 angular cheilitis 10.1 KRT6B KRT6A
39 eccrine papillary adenoma 10.0 KRT17 KRT16 KRT10
40 borst-jadassohn intraepidermal carcinoma 10.0 KRT17 KRT16 KRT10
41 primary cutaneous amyloidosis 10.0 KRT17 KRT16 KRT10
42 epidermolysis bullosa 10.0 KRT17 KRT16 KRT10
43 epidermolysis bullosa simplex 10.0 KRT17 KRT16 KRT10
44 palmoplantar keratoderma, nonepidermolytic 10.0 KRT6A KRT17 KRT16
45 alagille syndrome 1 10.0
46 hemifacial spasm, familial 10.0
47 lipomatosis, multiple 10.0
48 small cell cancer of the lung 10.0
49 down syndrome 10.0
50 ataxia and polyneuropathy, adult-onset 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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenoma sebaceum 58 31 hallmark (90%) Very frequent (99-80%) HP:0009720
2 steatocystoma multiplex 58 31 hallmark (90%) Very frequent (99-80%) HP:0012035
3 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.47 KRT6B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.47 KRT6A KRT6B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.47 KRT6A KRT79
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.47 KRT79
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.47 KRT6A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.47 KRT6A KRT6B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.47 KRT6A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.47 KRT6B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.47 KRT6B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.47 KRT6A KRT6B

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 29 KRT17

Anatomical Context for Steatocystoma Multiplex

MalaCards organs/tissues related to Steatocystoma Multiplex:

40
Kidney, Lung, Skin, Tongue, Smooth Muscle, Colon, Heart

Publications for Steatocystoma Multiplex

Articles related to Steatocystoma Multiplex:

(show top 50) (show all 262)
# Title Authors PMID Year
1
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. 61 54 6 57
9008238 1997
2
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. 6 61 54
9767294 1998
3
Five generations with steatocystoma multiplex congenita: a treatment regimen. 61 57
9091916 1997
4
Familial steatocystoma multiplex: HLA, Gm, Km genotyping and chromosomal analysis in two unrelated families. 57 61
2766570 1989
5
Familial steatocystoma multiplex; 12 cases in three generations. 61 57
18098741 1948
6
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 6
11886499 2001
7
Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. 57
1147634 1975
8
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. 61 54
16620218 2006
9
A novel mouse type I intermediate filament gene, keratin 17n (K17n), exhibits preferred expression in nail tissue. 54 61
15102087 2004
10
Expression of keratins (K10 and K17) in steatocystoma multiplex, eruptive vellus hair cysts, and epidermoid and trichilemmal cysts. 54 61
9185910 1997
11
Human keratin diseases: hereditary fragility of specific epithelial tissues. 54 61
9028791 1996
12
An updated review of the sebaceous gland and its role in health and diseases Part 2: Pathophysiological clinical disorders of sebaceous glands. 61
33571388 2021
13
Imaging features of steatocystoma multiplex- back to basics. 61
33527591 2021
14
A simple modified surgical technique combined with tissue adhesive for steatocystoma multiplex. 61
32390282 2021
15
Ultrasound Morphologic Features of Steatocystoma Multiplex With Clinical Correlation. 61
32356597 2020
16
Palatal steatocystoma simplex-a rare oral finding at an even rarer location. 61
33072253 2020
17
A Case of Steatocystoma Multiplex in a Psoriatic Patient during Treatment with Anti-IL-12/23. 61
33088817 2020
18
Ultrasound-Guided Intralesional Cryotherapy for Treatment of Steatocystoma Multiplex. 61
32932264 2020
19
The rationale of ideal pulse duration and pulse interval in the treatment of steatocystoma multiplex using the carbon dioxide laser in a super-pulse mode as opposed to the ultra-pulse mode. 61
32362600 2020
20
Parameatal Median Raphe Cyst: A Case Report of a Midline Developmental Defect of True Urogenital Origin. 61
32477982 2020
21
A case of late onset steatocystoma multiplex. 61
32467696 2020
22
Mutation analysis of the KRT17 gene in steatocystoma multiplex and a brief literature review. 61
31237972 2020
23
Steatocystoma multiplex: A case report of a rare entity. 61
31915618 2019
24
Coexistence of steatocystoma multiplex and hidradenitis suppurativa: Assessment of this unique association by means of ultrasonography and Color Doppler. 61
31353757 2019
25
Steatocystoma multiplex suppurativa associated with hidradenitis suppurativa successfully treated with adalimumab. 61
31535759 2019
26
Dermatoscopy for the rapid diagnosis of Talaromyces marneffei infection: a case report. 61
31399065 2019
27
Keratin 17 in disease pathogenesis: from cancer to dermatoses. 61
30306595 2019
28
Steatocystoma Multiplex Suppurativa: A Case with Unusual Giant Cysts over the Scalp and Neck. 61
31011316 2019
29
Treatment of steatocystoma multiplex on axillae using keyhole approach technique. 61
30325681 2019
30
Numerous asymptomatic dermal cysts: Diagnosis and treatment of steatocystoma multiplex. 61
30541803 2018
31
1927-nm fiber-optic diode laser: A novel therapeutic option for facial steatocystoma multiplex. 61
30597723 2018
32
Steatocystoma Simplex on the Scalp: A Case Report. 61
30141463 2018
33
An Unusual Case of Facial Steatocystoma Multiplex: A Clinicopathologic and Dermoscopic Report. 61
29998099 2018
34
A recurrent mutation in the KRT17 gene responsible for severe steatocystoma multiplex in a large Chinese family. 61
29218738 2018
35
Eruptive Vellus Hair Cyst: An Uncommon and Underdiagnosed Entity. 61
29440857 2018
36
Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features. 61
28658971 2017
37
Co-occurrence of steatocystoma multiplex, eruptive vellus hair cysts, and trichofolliculomas. 61
28873115 2017
38
A Tale of Two Cysts: Steatocystoma Multiplex and Eruptive Vellus Hair Cysts-Two Case Reports and a Review of the Literature. 61
28480085 2017
39
Difficult diagnosis and challenging treatment – a report on leprosy. 61
30226359 2016
40
Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex. 61
27183246 2016
41
Steatocystoma multiplex suppurativa: case report of a rare condition. 61
28300893 2016
42
Pachyonychia congenita with late onset (PC tarda). 61
27559502 2016
43
Steatocystoma simplex in penile foreskin: a case report. 61
26951088 2016
44
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. 61
26165312 2015
45
Facial steatocystoma multiplex combined with eruptive vellus hair cysts: a hybrid? 61
25073410 2015
46
Steatocystoma multiplex with hair shaft abnormalities. 61
25808203 2015
47
Polycystic kidney disease with steatocystoma multiplex: evidences for a disruptive effect of mutated polycystin-1 on keratin 17 polymerisation. 61
25111597 2015
48
Recurring axillary, abdominal and genitofemoral nodules and abscesses. Hereditary steatocystoma multiplex. 61
24816583 2015
49
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. 61
24842198 2014
50
Steatocystoma multiplex: those little tumours. 61
25632643 2014

Variations for Steatocystoma Multiplex

ClinVar genetic disease variations for Steatocystoma Multiplex:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT17 NM_000422.3(KRT17):c.274A>C (p.Asn92His) SNV Pathogenic 14589 rs28928896 GRCh37: 17:39780488-39780488
GRCh38: 17:41624236-41624236
2 KRT17 NM_000422.3(KRT17):c.281G>A (p.Arg94His) SNV Pathogenic 14590 rs28928897 GRCh37: 17:39780481-39780481
GRCh38: 17:41624229-41624229
3 KRT17 NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) SNV Pathogenic 14591 rs58730926 GRCh37: 17:39780482-39780482
GRCh38: 17:41624230-41624230

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

72
# 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

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
12.82 KRT86 KRT79 KRT6B KRT6A KRT28 KRT2
2 12.16 KRT6B KRT6A KRT17 KRT10
3 11.76 KRT28 KRT17 KRT16 KRT10
4
Show member pathways
11.73 KRT86 KRT79 KRT6B KRT6A KRT28 KRT2
5
Show member pathways
11.59 KRT6A KRT2 KRT17 KRT16
6 11.44 KRT28 KRT17 KRT16 KRT10

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 cytosol GO:0005829 9.91 KRT86 KRT79 KRT6B KRT6A KRT28 KRT2
2 extracellular exosome GO:0070062 9.76 PKD1 KRT79 KRT6B KRT6A KRT28 KRT2
3 keratin filament GO:0045095 9.35 KRT86 KRT79 KRT6B KRT6A KRT2
4 cornified envelope GO:0001533 9.32 KRT2 KRT10
5 intermediate filament GO:0005882 9.28 KRT86 KRT79 KRT6B KRT6A KRT28 KRT2

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.61 KRT6B KRT6A KRT16
2 cornification GO:0070268 9.61 KRT86 KRT79 KRT6B KRT6A KRT28 KRT2
3 keratinocyte differentiation GO:0030216 9.48 KRT16 KRT10
4 peptide cross-linking GO:0018149 9.46 KRT2 KRT10
5 intermediate filament organization GO:0045109 9.4 KRT2 KRT17
6 protein heterotetramerization GO:0051290 9.37 PKD1 KRT10
7 morphogenesis of an epithelium GO:0002009 9.33 KRT6A KRT17 KRT16
8 keratinocyte migration GO:0051546 9.32 KRT2 KRT16
9 keratinization GO:0031424 9.28 KRT86 KRT79 KRT6B KRT6A KRT28 KRT2
10 positive regulation of epidermis development GO:0045684 9.26 KRT2 KRT10

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.26 KRT28 KRT17 KRT16 KRT10
2 structural constituent of epidermis GO:0030280 9.16 KRT2 KRT10
3 structural constituent of cytoskeleton GO:0005200 8.92 KRT6B KRT6A KRT2 KRT16

Sources for Steatocystoma Multiplex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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