SSKS
MCID: STF002
MIFTS: 53

Stiff Skin Syndrome (SSKS) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Stiff Skin Syndrome

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Aliases & Descriptions for Stiff Skin Syndrome:

Name: Stiff Skin Syndrome 52 48 24 54 70 27 12 68
 
Ssks 24 70

Characteristics:

HPO:

64
stiff skin syndrome:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 184900
Orphanet54 ORPHA2833
ICD10 via Orphanet31 L98.8
MedGen37 C1861456
MeSH39 D012873

Summaries for Stiff Skin Syndrome

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NIH Rare Diseases:48 Stiff skin syndrome (sss) is a rare condition characterized by hard, thick skin (usually on the entire body), which limits joint mobility and causes flexion contractures (when joints are stuck in a bent position). the condition may be apparent at birth, or may become apparent before age 6. other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), muscle weakness, slow growth, and short stature. weakness or paralysis of the eye muscles has also been reported. sss is caused by mutations in the fbn1 gene and is inherited in an autosomal dominant manner. treatment is usually supportive and may include physiotherapy. last updated: 10/29/2015

MalaCards based summary: Stiff Skin Syndrome, also known as SSKS, is related to heritable thoracic aortic disease and shprintzen-goldberg syndrome, and has symptoms including Array, Array and Array. An important gene associated with Stiff Skin Syndrome is FBN1 (Fibrillin 1), and among its related pathways are Hypothesized Pathways in Pathogenesis of Cardiovascular Disease and Lung fibrosis. Affiliated tissues include skin and eye, and related mouse phenotypes are craniofacial and renal/urinary system.

OMIM:52 Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and... (184900) more...

UniProtKB/Swiss-Prot:70 Stiff skin syndrome: A syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.

Wikipedia:71 Stiff skin syndrome (also known as \"Congenital fascial dystrophy\") is a cutaneous condition... more...

Related Diseases for Stiff Skin Syndrome

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Diseases related to Stiff Skin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1heritable thoracic aortic disease10.2FBN1, TGFB1
2shprintzen-goldberg syndrome10.1FBN1, TGFB1
3miliaria10.1CTGF, TGFB1
4anhidrosis10.1CTGF, TGFB1
5aphthous stomatitis10.1CTGF, TGFB1
6agammaglobulinemia 610.1CTGF, TGFB1
7hereditary night blindness10.1CTGF, TGFB1
8zika fever10.1CTGF, TGFB1
9cholera10.1CTGF, TGFB1
10hypertrichosis of eyelid10.1CTGF, TGFB1
11splenic flexure cancer10.1COL1A2, TGFB1
12contact lens corneal edema10.1FBN1, TGFB2
13pulmonary valve insufficiency10.1CTGF, TGFB1
14discharging ear10.1TGFB1, TGFB2
15lubani-al saleh-teebi syndrome10.1TGFB1, TGFB2
16neuroectodermal endocrine syndrome10.1CTGF, TGFB1
17orbit alveolar rhabdomyosarcoma10.1TGFB1, TGFB2
18algoneurodystrophy10.1FBN1, TGFB2
19lymphangiectasia, intestinal10.1CTGF, TGFB1
20germ cell and embryonal cancer10.1CTGF, TGFB1
21tmem231-related meckel syndrome10.0FBN1, TGFB2
22cerebral convexity meningioma10.0FBN1, TGFB2
23chronic polyneuropathy10.0FBN1, TGFB2
24acute necrotizing encephalitis10.0CTGF, TGFB1
25malignant neoplasm of acoustic nerve10.0CTGF, TGFB1
26mass syndrome10.0COL1A2, FBN1, TGFB1
27testicular lymphoma10.0CTGF, FBN1, TGFB1
28scapuloperoneal myopathy10.0COL1A2, FBN1
29pituitary infarct10.0TGFB1, THBS1
30agraphia10.0COL1A2, CTGF, FBN1
31epidermolysis bullosa simplex, sutosomal recessive 29.9CTGF, TGFB2
32endemic typhus9.9FBN1, TGFB1, TGFB2
33herpes simplex9.9COL1A2, CTGF, TGFB1
34upper respiratory tract disease9.9CTGF, TGFB1, TGFB2
35albinism, oculocutaneous, type ia9.9CTGF, TGFB1, TGFB2
36patent foramen ovale9.9CTGF, TGFB1
37dihydroxyadeninuria9.8CTGF, FBN1, THBS1
38marfan syndrome9.6
39scleredema9.6
40geleophysic dysplasia 29.2COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1

Graphical network of the top 20 diseases related to Stiff Skin Syndrome:



Diseases related to stiff skin syndrome

Symptoms & Phenotypes for Stiff Skin Syndrome

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Symptoms by clinical synopsis from OMIM:

184900

Clinical features from OMIM:

184900

Human phenotypes related to Stiff Skin Syndrome:

 54 64 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
2 strabismus64 54 Occasional (29-5%) HP:0000486
3 glaucoma64 54 Occasional (29-5%) HP:0000501
4 retinal detachment64 54 Occasional (29-5%) HP:0000541
5 nephrolithiasis64 54 Occasional (29-5%) HP:0000787
6 hypertension64 54 Occasional (29-5%) HP:0000822
7 thickened skin64 54 Very frequent (99-80%) HP:0001072
8 muscle weakness64 54 Occasional (29-5%) HP:0001324
9 limitation of joint mobility64 54 Very frequent (99-80%) HP:0001376
10 subcutaneous nodule64 54 Occasional (29-5%) HP:0001482
11 abnormality of the musculature54 Occasional (29-5%)
12 abnormality of lipid metabolism64 54 Occasional (29-5%) HP:0003119
13 short stature64 54 Occasional (29-5%) HP:0004322
14 type ii diabetes mellitus64 54 Occasional (29-5%) HP:0005978
15 impaired pain sensation64 54 Occasional (29-5%) HP:0007328
16 aplasia/hypoplasia of the skin64 54 Occasional (29-5%) HP:0008065
17 peripheral neuropathy64 54 Occasional (29-5%) HP:0009830
18 midface retrusion64 54 Occasional (29-5%) HP:0011800
19 lipoatrophy64 54 Occasional (29-5%) HP:0100578
20 lack of skin elasticity64 54 Very frequent (99-80%) HP:0100679
21 flexion contracture64 HP:0001371
22 lipodystrophy64 HP:0009125
23 stiff skin64 HP:0030053

MGI Mouse Phenotypes related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

41 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3CTGF, FBN1, TGFB1, TGFB2
2MP:00053678.9FBN1, TGFB1, TGFB2, THBS1
3MP:00053818.9CTGF, TGFB1, TGFB2, THBS1
4MP:00107718.6COL1A2, CTGF, FBN1, TGFB1, THBS1
5MP:00053698.4COL1A2, FBN1, TGFB1, TGFB2, THBS1
6MP:00053718.4COL1A2, CTGF, FBN1, TGFB2, THBS1
7MP:00053888.4CTGF, FBN1, TGFB1, TGFB2, THBS1
8MP:00053858.0COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
9MP:00053848.0COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
10MP:00053788.0COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
11MP:00053768.0COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
12MP:00107687.9COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
13MP:00053907.1COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1

Drugs & Therapeutics for Stiff Skin Syndrome

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Drugs for Stiff Skin Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunoglobulins6394
2Autoantibodies130
3Antibodies6394
4Glutamic AcidNutraceutical228

Interventional clinical trials:

idNameStatusNCT IDPhase
1Management of Compartment Syndrome With UltrafiltrationCompletedNCT00022815Phase 1
2Stiffness of the Skin and Joints in Relation to Carpal Tunnel SyndromeUnknown statusNCT01081860
3New Phototherapy Device to Treat Patients With Crigler-Najjar DiseaseUnknown statusNCT02356978
4Cause, Development, and Progression of Stiff-Person SyndromeCompletedNCT00030940

Search NIH Clinical Center for Stiff Skin Syndrome

Genetic Tests for Stiff Skin Syndrome

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Genetic tests related to Stiff Skin Syndrome:

id Genetic test Affiliating Genes
1 Stiff Skin Syndrome27 24 FBN1
2 Stiff Skin27

Anatomical Context for Stiff Skin Syndrome

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MalaCards organs/tissues related to Stiff Skin Syndrome:

36
Skin, Eye

Publications for Stiff Skin Syndrome

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Articles related to Stiff Skin Syndrome:

(show all 33)
idTitleAuthorsYear
1
Segmental stiff skin syndrome (SSS): Two additional cases with a positive response to mycophenolate mofetil and physical therapy. (27846975)
2016
2
Segmental stiff skin syndrome (SSS): A distinct clinical entity. (26944597)
2016
3
The ocular phenotype of stiff-skin syndrome. (26471116)
2015
4
A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome. (26437281)
2015
5
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. (25979247)
2015
6
Four new cases of stiff skin syndrome with unusual presentations. (25200307)
2014
7
Congenital fascial dystrophy or stiff skin syndrome: a case report. (24630430)
2014
8
Stiff skin syndrome in a newborn infant. (22998194)
2013
9
Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT). (23910622)
2013
10
A subcutaneous lattice-like array of thick collagen is a clue to the diagnosis of stiff skin syndrome. (22211327)
2012
11
Stiff skin syndrome--case report. (22068804)
2011
12
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. (20375004)
2010
13
Familial localized stiff skin syndrome. (20618510)
2010
14
Stiff skin syndrome: evidence for an inflammation-independent fibrosis? (19468049)
2009
15
Stiff skin syndrome versus scleroderma: a report of two cases. (19415378)
2009
16
The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. (18936399)
2008
17
Visceral involvement in stiff skin syndrome. (17542896)
2007
18
Stiff skin syndrome. (16836505)
2006
19
Stiff-skin syndrome. (16422231)
2005
20
Stiff skin syndrome is highly heterogeneous, and congenital fascial dystrophy is its distinct subset. (15283804)
2004
21
Two cases for diagnosis: asymmetric childhood scleredema or stiff skin syndrome? (12869161)
2003
22
Stiff skin syndrome: a case report. (12869158)
2003
23
Clinical images: Stiff skin syndrome. (10902758)
2000
24
Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome). (10792797)
2000
25
Physiopathogenic investigations in a case of familial stiff-skin syndrome. (9732160)
1998
26
Congenital fascial dystrophy: the stiff skin syndrome. (9314621)
1997
27
Stiff skin syndrome: a case report and review of the literature. (7727838)
1995
28
Congenital fascial dystrophy: stiff skin syndrome--a human counterpart of the tight-skin mouse. (2808830)
1989
29
Stiff skin syndrome. (2933643)
1985
30
Congenital fascial dystrophy--a noninflammatory disease of fascia: the stiff skin syndrome. (6514641)
1984
31
Stiff skin syndrome. (1227550)
1975
32
Stiff skin syndrome. (5100776)
1971
33
The stiff skin syndrome. (5173296)
1971

Variations for Stiff Skin Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Stiff Skin Syndrome:

70
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys1564SerVAR_064046
2FBN1p.Trp1570CysVAR_064047
3FBN1p.Cys1577GlyVAR_064048
4FBN1p.Gly1594AspVAR_064049

Clinvar genetic disease variations for Stiff Skin Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FBN1NM_ 000138.4(FBN1): c.4710G> T (p.Trp1570Cys)SNVPathogenicrs267606799GRCh37Chr 15, 48760172: 48760172
2FBN1NM_ 000138.4(FBN1): c.4710G> C (p.Trp1570Cys)SNVPathogenicrs267606799GRCh37Chr 15, 48760172: 48760172
3FBN1NM_ 000138.4(FBN1): c.4691G> C (p.Cys1564Ser)SNVPathogenicrs267606800GRCh37Chr 15, 48760191: 48760191
4FBN1NM_ 000138.4(FBN1): c.4729T> G (p.Cys1577Gly)SNVPathogenicrs267606801GRCh37Chr 15, 48760153: 48760153
5FBN1NM_ 000138.4(FBN1): c.4781G> A (p.Gly1594Asp)SNVPathogenic/ Likely pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022

Expression for genes affiliated with Stiff Skin Syndrome

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Search GEO for disease gene expression data for Stiff Skin Syndrome.

Pathways for genes affiliated with Stiff Skin Syndrome

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Pathways related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

(show all 34)
idSuper pathwaysScoreTop Affiliating Genes
19.5CTGF, FBN1
29.5CTGF, TGFB1
3
Show member pathways
9.5CTGF, TGFB1
49.4TGFB1, TGFB2
59.4TGFB1, TGFB2
6
Show member pathways
9.4TGFB1, TGFB2
79.4TGFB1, TGFB2
89.4TGFB1, TGFB2
99.4TGFB1, TGFB2
10
Show member pathways
9.4TGFB1, TGFB2
119.4TGFB1, TGFB2
129.4TGFB1, TGFB2
13
Show member pathways
9.4TGFB1, TGFB2
149.4TGFB1, TGFB2
15
Show member pathways
9.2TGFB1, THBS1
16
Show member pathways
9.2TGFB1, THBS1
179.1COL1A2, THBS1
189.1COL1A2, THBS1
19
Show member pathways
9.0FBN1, TGFB1, TGFB2
208.9COL1A2, TGFB1, TGFB2
218.9COL1A2, TGFB1, TGFB2
228.9CTGF, TGFB1, TGFB2
238.9CTGF, TGFB1, TGFB2
24
Show member pathways
8.9CTGF, TGFB1, TGFB2
25
Show member pathways
8.7COL1A2, FBN1, THBS1
26
Show member pathways
8.7COL1A2, TGFB1, THBS1
278.6TGFB1, TGFB2, THBS1
288.6TGFB1, TGFB2, THBS1
29
Show member pathways
8.6TGFB1, TGFB2, THBS1
30
Show member pathways
8.6TGFB1, TGFB2, THBS1
31
Show member pathways
7.9COL1A2, CTGF, FBN1, TGFB1, TGFB2
32
Show member pathways
7.9COL1A2, CTGF, FBN1, TGFB1, TGFB2
33
Show member pathways
7.6COL1A2, FBN1, TGFB1, TGFB2, THBS1
34
Show member pathways
7.6COL1A2, FBN1, TGFB1, TGFB2, THBS1

GO Terms for genes affiliated with Stiff Skin Syndrome

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Cellular components related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.5COL1A2, FBN1, THBS1
2platelet alpha granule lumenGO:00310939.2TGFB1, TGFB2, THBS1
3proteinaceous extracellular matrixGO:00055788.6COL1A2, CTGF, FBN1, TGFB1
4extracellular matrixGO:00310128.4COL1A2, FBN1, TGFB1, TGFB2, THBS1
5extracellular regionGO:00055767.9COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
6extracellular spaceGO:00056157.8COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1

Biological processes related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1cellular response to insulin-like growth factor stimulusGO:199031410.4FBN1, TGFB1
2cellular response to transforming growth factor beta stimulusGO:007156010.4FBN1, TGFB1
3positive regulation of collagen biosynthetic processGO:003296710.2CTGF, TGFB1
4cell developmentGO:004846810.2TGFB1, TGFB2
5cell growthGO:001604910.2TGFB1, TGFB2
6cell-cell junction organizationGO:004521610.2TGFB1, TGFB2
7epithelial to mesenchymal transitionGO:000183710.2TGFB1, TGFB2
8extrinsic apoptotic signaling pathwayGO:009719110.2TGFB1, TGFB2
9face morphogenesisGO:006032510.2TGFB1, TGFB2
10heart valve morphogenesisGO:000317910.2TGFB1, TGFB2
11inner ear developmentGO:004883910.2TGFB1, TGFB2
12negative regulation of epithelial cell proliferationGO:005068010.2TGFB1, TGFB2
13negative regulation of immune responseGO:005077710.1TGFB1, TGFB2
14negative regulation of macrophage cytokine productionGO:001093610.1TGFB1, TGFB2
15neural tube closureGO:000184310.1TGFB1, TGFB2
16pathway-restricted SMAD protein phosphorylationGO:006038910.1TGFB1, TGFB2
17positive regulation of cell divisionGO:005178110.1TGFB1, TGFB2
18positive regulation of epithelial to mesenchymal transitionGO:001071810.1TGFB1, TGFB2
19blood vessel developmentGO:000156810.1COL1A2, TGFB2
20cartilage condensationGO:000150210.1CTGF, TGFB2
21positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.1TGFB1, TGFB2
22collagen fibril organizationGO:003019910.1COL1A2, TGFB2
23positive regulation of protein localization to nucleusGO:190018210.1TGFB1, TGFB2
24positive regulation of protein secretionGO:005071410.1TGFB1, TGFB2
25odontogenesisGO:004247610.1COL1A2, TGFB2
26salivary gland morphogenesisGO:000743510.0TGFB1, TGFB2
27cellular response to growth factor stimulusGO:007136310.0TGFB1, THBS1
28SMAD protein import into nucleusGO:000718410.0TGFB1, TGFB2
29negative regulation of blood vessel endothelial cell migrationGO:004353710.0TGFB1, THBS1
30positive regulation of blood vessel endothelial cell migrationGO:00435369.9TGFB1, THBS1
31positive regulation of chemotaxisGO:00509219.9TGFB1, THBS1
32positive regulation of fibroblast migrationGO:00107639.9TGFB1, THBS1
33SMAD protein signal transductionGO:00603959.9TGFB1, TGFB2
34heart developmentGO:00075079.7FBN1, TGFB1, TGFB2
35negative regulation of gene expressionGO:00106299.6CTGF, TGFB1, TGFB2
36positive regulation of gene expressionGO:00106289.6CTGF, TGFB1, TGFB2
37response to woundingGO:00096119.5CTGF, TGFB1, TGFB2
38skeletal system developmentGO:00015019.5COL1A2, FBN1, TGFB2
39cell cycle arrestGO:00070509.4TGFB1, TGFB2, THBS1
40response to glucoseGO:00097499.3CTGF, TGFB1, THBS1
41platelet degranulationGO:00025769.3TGFB1, TGFB2, THBS1
42response to drugGO:00424939.3TGFB1, TGFB2, THBS1
43response to hypoxiaGO:00016669.2TGFB1, TGFB2, THBS1
44response to progesteroneGO:00325709.2TGFB1, TGFB2, THBS1
45transforming growth factor beta receptor signaling pathwayGO:00071798.9COL1A2, TGFB1, TGFB2
46extracellular matrix organizationGO:00301988.9COL1A2, FBN1, TGFB2, THBS1
47cell migrationGO:00164778.8CTGF, TGFB1, TGFB2, THBS1
48positive regulation of cell proliferationGO:00082848.8CTGF, TGFB1, TGFB2, THBS1

Molecular functions related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:000520110.2COL1A2, FBN1
2glycoprotein bindingGO:00019489.8TGFB1, THBS1
3fibronectin bindingGO:00019689.8CTGF, THBS1
4transforming growth factor beta receptor bindingGO:00051609.6TGFB1, TGFB2
5growth factor activityGO:00080839.5CTGF, TGFB1, TGFB2
6type II transforming growth factor beta receptor bindingGO:00051149.4TGFB1, TGFB2
7type III transforming growth factor beta receptor bindingGO:00347149.4TGFB1, TGFB2
8heparin bindingGO:00082019.3CTGF, FBN1, THBS1
9integrin bindingGO:00051789.2CTGF, FBN1, THBS1

Sources for Stiff Skin Syndrome

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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