MCID: STF002
MIFTS: 53

Stiff Skin Syndrome 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 genetic prion diseases and shprintzen-goldberg syndrome, and has symptoms including thickened skin, limitation of joint mobility and lack of skin elasticity. An important gene associated with Stiff Skin Syndrome is FBN1 (Fibrillin 1), and among its related pathways are TGF-beta receptor signaling and Cell adhesion_Plasmin signaling. Affiliated tissues include skin, eye and skeletal muscle, and related mouse phenotypes are craniofacial and renal/urinary system.

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.

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

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 46)
idRelated DiseaseScoreTop Affiliating Genes
1genetic prion diseases10.3FBN1, TGFB1
2shprintzen-goldberg syndrome10.2FBN1, TGFB1
3lymphogranuloma venereum10.2CTGF, TGFB1
4hypohidrosis10.2CTGF, TGFB1
5stomatitis10.2CTGF, TGFB1
6agammaglobulinemia 610.2CTGF, TGFB1
7descending colon cancer10.2COL1A2, TGFB1
8salt and pepper syndrome10.2CTGF, TGFB1
9pulpitis10.2FBN1, TGFB1
10echinococcosis10.2CTGF, TGFB1
11actinomycosis10.2CTGF, TGFB1
12hypopigmentation of eyelid10.1CTGF, TGFB1
13benign neonatal seizures10.1CTGF, TGFB1
14nephropathy familial with hyperuricemia10.1CTGF, TGFB1
15diamond-blackfan anemia10.1TGFB1, TGFB2
16granulomatous orchitis10.1CTGF, TGFB1
17fibrosclerosis of breast10.1TGFB1, TGFB2
18brucella canis brucellosis10.1FBN1, TGFB2
19strawberry gallbladder10.1TGFB1, TGFB2
20epidermolysis bullosa simplex superficialis10.1CTGF, TGFB1
21twin-to-twin transfusion syndrome10.1TGFB1, TGFB2
22peanut allergy10.1TGFB1, TGFB2
23benign struma ovarii10.1CTGF, TGFB1
24paranasal sinus sarcoma10.0CTGF, TGFB1
2546 xy gonadal dysgenesis10.0TGFB1, TGFB2
26herpetic gastritis10.0FBN1, TGFB2
27malignant struma ovarii10.0FBN1, TGFB2
28perrault syndrome10.0CTGF, TGFB1
29nonspecific interstitial pneumonia9.9CTGF, TGFB1
30ectopia lentis, familial9.9COL1A2, FBN1, TGFB1
31temporomandibular ankylosis9.9CTGF, FBN1, TGFB1
32childhood spinal cord tumor9.8FBN1, TGFB2
33leukemia9.8FBN1, TGFB1, TGFB2
34idiopathic corneal edema9.8FBN1, TGFB1, TGFB2
35epidemic typhus9.8FBN1, TGFB1, TGFB2
36holoprosencephaly9.8TGFB1, TGFB2
37prolactin producing pituitary tumor9.7TGFB1, THBS1
38vitreous abscess9.7CTGF, TGFB1, TGFB2
39sclerosteosis9.6COL1A2, FBN1
40amyotrophic lateral sclerosis 129.6CTGF, TGFB2
41marfan syndrome9.6
42scleredema9.6
43ddx3x-related intellectual disability9.6CTGF, FBN1, THBS1
44hodgkin's lymphoma, lymphocytic-histiocytic predominance9.4COL1A2, CTGF, FBN1, TGFB1
45exudative vitreoretinopathy 19.0CTGF, TGFB1, TGFB2, THBS1
46acromicric dysplasia8.2COL1A2, 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:

 64 54 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thickened skin64 54 hallmark (90%) Very frequent (99-80%) HP:0001072
2 limitation of joint mobility64 54 hallmark (90%) Very frequent (99-80%) HP:0001376
3 lack of skin elasticity64 54 hallmark (90%) Very frequent (99-80%) HP:0100679
4 malar flattening64 occasional (7.5%) HP:0000272
5 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
6 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
7 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
8 retinal detachment64 54 occasional (7.5%) Occasional (29-5%) HP:0000541
9 nephrolithiasis64 54 occasional (7.5%) Occasional (29-5%) HP:0000787
10 hypertension64 54 occasional (7.5%) Occasional (29-5%) HP:0000822
11 muscle weakness64 54 occasional (7.5%) Occasional (29-5%) HP:0001324
12 abnormality of lipid metabolism64 54 occasional (7.5%) Occasional (29-5%) HP:0003119
13 skeletal muscle atrophy64 occasional (7.5%) HP:0003202
14 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
15 type ii diabetes mellitus64 54 occasional (7.5%) Occasional (29-5%) HP:0005978
16 impaired pain sensation64 54 occasional (7.5%) Occasional (29-5%) HP:0007328
17 aplasia/hypoplasia of the skin64 54 occasional (7.5%) Occasional (29-5%) HP:0008065
18 lipoatrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0100578
19 lipodystrophy64 rare (5%) HP:0009125
20 peripheral neuropathy64 54 rare (5%) Occasional (29-5%) HP:0009830
21 flexion contracture64 HP:0001371
22 stiff skin64 HP:0030053
23 subcutaneous nodule54 Occasional (29-5%)
24 abnormality of the musculature54 Occasional (29-5%)
25 midface retrusion54 Occasional (29-5%)

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
1Immunoglobulins6045
2Autoantibodies126
3Antibodies6045
4Glutamic AcidNutraceutical214

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, Skeletal muscle

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
A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome. (26437281)
2015
4
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. (25979247)
2015
5
The ocular phenotype of stiff-skin syndrome. (26471116)
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 and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT). (23910622)
2013
9
Stiff skin syndrome in a newborn infant. (22998194)
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
Familial localized stiff skin syndrome. (20618510)
2010
13
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. (20375004)
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
Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome). (10792797)
2000
24
Clinical images: Stiff skin syndrome. (10902758)
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
The stiff skin syndrome. (5173296)
1971
33
Stiff skin syndrome. (5100776)
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)SNVLikely pathogenic, Pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022
6FBN1NM_000138.4(FBN1): c.8071G> A (p.Gly2691Ser)SNVLikely pathogenicrs145105768GRCh37Chr 15, 48704921: 48704921

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 27)
idSuper pathwaysScoreTop Affiliating Genes
19.5CTGF, TGFB1
29.4TGFB1, TGFB2
39.4TGFB1, TGFB2
4
Show member pathways
9.4TGFB1, TGFB2
59.4TGFB1, TGFB2
69.4TGFB1, TGFB2
79.4TGFB1, TGFB2
89.4TGFB1, TGFB2
99.4TGFB1, TGFB2
10
Show member pathways
9.4TGFB1, TGFB2
119.2TGFB1, THBS1
129.1COL1A2, THBS1
13
Show member pathways
9.0FBN1, TGFB1, TGFB2
148.9COL1A2, TGFB1, TGFB2
158.9COL1A2, TGFB1, TGFB2
16
Show member pathways
8.9CTGF, TGFB1, TGFB2
178.9CTGF, TGFB1, TGFB2
18
Show member pathways
8.9CTGF, TGFB1, TGFB2
198.9CTGF, TGFB1, TGFB2
20
Show member pathways
8.7COL1A2, FBN1, THBS1
218.6TGFB1, TGFB2, THBS1
228.6TGFB1, TGFB2, THBS1
23
Show member pathways
8.6TGFB1, TGFB2, THBS1
24
Show member pathways
7.9COL1A2, CTGF, FBN1, TGFB1, TGFB2
25
Show member pathways
7.9COL1A2, CTGF, FBN1, TGFB1, TGFB2
26
Show member pathways
7.6COL1A2, FBN1, TGFB1, TGFB2, THBS1
27
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
1platelet alpha granule lumenGO:00310939.2TGFB1, TGFB2, THBS1
2proteinaceous extracellular matrixGO:00055789.1CTGF, FBN1, TGFB1
3extracellular matrixGO:00310128.4COL1A2, FBN1, TGFB1, TGFB2, THBS1
4extracellular regionGO:00055767.9COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
5extracellular spaceGO:00056157.8COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1

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

(show all 44)
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 growthGO:001604910.2TGFB1, TGFB2
5cell-cell junction organizationGO:004521610.2TGFB1, TGFB2
6epithelial to mesenchymal transitionGO:000183710.2TGFB1, TGFB2
7extrinsic apoptotic signaling pathwayGO:009719110.2TGFB1, TGFB2
8face morphogenesisGO:006032510.2TGFB1, TGFB2
9negative regulation of epithelial cell proliferationGO:005068010.2TGFB1, TGFB2
10negative regulation of immune responseGO:005077710.1TGFB1, TGFB2
11negative regulation of macrophage cytokine productionGO:001093610.1TGFB1, TGFB2
12pathway-restricted SMAD protein phosphorylationGO:006038910.1TGFB1, TGFB2
13positive regulation of cell divisionGO:005178110.1TGFB1, TGFB2
14positive regulation of epithelial to mesenchymal transitionGO:001071810.1TGFB1, TGFB2
15positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.1TGFB1, TGFB2
16blood vessel developmentGO:000156810.1COL1A2, TGFB2
17cartilage condensationGO:000150210.1CTGF, TGFB2
18positive regulation of protein localization to nucleusGO:190018210.1TGFB1, TGFB2
19positive regulation of protein secretionGO:005071410.1TGFB1, TGFB2
20collagen fibril organizationGO:003019910.1COL1A2, TGFB2
21odontogenesisGO:004247610.1COL1A2, TGFB2
22salivary gland morphogenesisGO:000743510.0TGFB1, TGFB2
23SMAD protein import into nucleusGO:000718410.0TGFB1, TGFB2
24cellular response to growth factor stimulusGO:007136310.0TGFB1, THBS1
25negative regulation of blood vessel endothelial cell migrationGO:004353710.0TGFB1, THBS1
26positive regulation of blood vessel endothelial cell migrationGO:00435369.9TGFB1, THBS1
27positive regulation of chemotaxisGO:00509219.9TGFB1, THBS1
28positive regulation of fibroblast migrationGO:00107639.9TGFB1, THBS1
29SMAD protein signal transductionGO:00603959.9TGFB1, TGFB2
30positive regulation of protein kinase B signalingGO:00518979.9TGFB1, THBS1
31negative regulation of gene expressionGO:00106299.6CTGF, TGFB1, TGFB2
32positive regulation of cell proliferationGO:00082849.6CTGF, TGFB1, TGFB2
33positive regulation of gene expressionGO:00106289.6CTGF, TGFB1, TGFB2
34response to woundingGO:00096119.5CTGF, TGFB1, TGFB2
35skeletal system developmentGO:00015019.5COL1A2, FBN1, TGFB2
36cell cycle arrestGO:00070509.3TGFB1, TGFB2, THBS1
37response to glucoseGO:00097499.3CTGF, TGFB1, THBS1
38platelet degranulationGO:00025769.3TGFB1, TGFB2, THBS1
39response to drugGO:00424939.2TGFB1, TGFB2, THBS1
40response to hypoxiaGO:00016669.2TGFB1, TGFB2, THBS1
41response to progesteroneGO:00325709.2TGFB1, TGFB2, THBS1
42transforming growth factor beta receptor signaling pathwayGO:00071798.9COL1A2, TGFB1, TGFB2
43extracellular matrix organizationGO:00301988.9COL1A2, FBN1, TGFB2, THBS1
44cell migrationGO:00164778.8CTGF, TGFB1, TGFB2, THBS1

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

(show all 8)
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:00080839.4CTGF, TGFB1, TGFB2
6type II transforming growth factor beta receptor bindingGO:00051149.4TGFB1, TGFB2
7type III transforming growth factor beta receptor bindingGO:00347149.4TGFB1, TGFB2
8integrin 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