MCID: STF002
MIFTS: 51

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 50 46 23 52 68 25 12 66
 
Ssks 23 68

Characteristics:

HPO:

62
stiff skin syndrome:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 184900
Orphanet52 ORPHA2833
ICD10 via Orphanet29 L98.8
MedGen35 C1861456
MeSH37 D012873

Summaries for Stiff Skin Syndrome

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NIH Rare Diseases:46 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 IL-2 Gene Expression in Activated and Quiescent T-Cells. Affiliated tissues include skin, eye and skeletal muscle, and related mouse phenotypes are craniofacial and digestive/alimentary.

UniProtKB/Swiss-Prot:68 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:50 Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and... (184900) more...

Wikipedia:69 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 48)
idRelated DiseaseScoreTop Affiliating Genes
1genetic prion diseases10.4FBN1, TGFB1
2shprintzen-goldberg syndrome10.3FBN1, TGFB1
3lymphogranuloma venereum10.3CTGF, TGFB1
4diamond-blackfan anemia10.3TGFB1, TGFB2
5hypohidrosis10.3CTGF, TGFB1
6stomatitis10.3CTGF, TGFB1
7fibrosclerosis of breast10.3TGFB1, TGFB2
8brucella canis brucellosis10.3FBN1, TGFB2
9strawberry gallbladder10.3TGFB1, TGFB2
10twin-to-twin transfusion syndrome10.2TGFB1, TGFB2
11peanut allergy10.2TGFB1, TGFB2
12agammaglobulinemia 610.2CTGF, TGFB1
13pulpitis10.2FBN1, TGFB1
14salt and pepper syndrome10.2CTGF, TGFB1
15echinococcosis10.2CTGF, TGFB1
16actinomycosis10.2CTGF, TGFB1
17hypopigmentation of eyelid10.2CTGF, TGFB1
18benign neonatal seizures10.2CTGF, TGFB1
19nephropathy familial with hyperuricemia10.2CTGF, TGFB1
20granulomatous orchitis10.2CTGF, TGFB1
21epidermolysis bullosa simplex superficialis10.2CTGF, TGFB1
22herpetic gastritis10.2FBN1, TGFB2
2346 xy gonadal dysgenesis10.1TGFB1, TGFB2
24benign struma ovarii10.1CTGF, TGFB1
25malignant struma ovarii10.1FBN1, TGFB2
26descending colon cancer10.1COL1A2, TGFB1
27paranasal sinus sarcoma10.1CTGF, TGFB1
28perrault syndrome10.0CTGF, TGFB1
29nonspecific interstitial pneumonia10.0CTGF, TGFB1
30holoprosencephaly9.9TGFB1, TGFB2
31childhood spinal cord tumor9.9FBN1, TGFB2
32leukemia9.9FBN1, TGFB1, TGFB2
33idiopathic corneal edema9.9FBN1, TGFB1, TGFB2
34epidemic typhus9.9FBN1, TGFB1, TGFB2
35temporomandibular ankylosis9.9CTGF, FBN1, TGFB1
36mononeuritis9.9CTGF, TGFB1
37vitreous abscess9.8CTGF, TGFB1, TGFB2
38ectopia lentis, familial9.8COL1A2, FBN1, TGFB1
39prolactin producing pituitary tumor9.8TGFB1, THBS1
40amyotrophic lateral sclerosis 129.7CTGF, TGFB2
41marfan syndrome9.7
42myeloma9.7
43scleredema9.7
44ddx3x-related intellectual disability9.5CTGF, FBN1, THBS1
45sclerosteosis9.5COL1A2, FBN1
46hodgkin's lymphoma, lymphocytic-histiocytic predominance9.3COL1A2, CTGF, FBN1, TGFB1
47exudative vitreoretinopathy 19.0CTGF, TGFB1, TGFB2, THBS1
48acromicric dysplasia8.0COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1

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



Diseases related to stiff skin syndrome

Symptoms for Stiff Skin Syndrome

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Symptoms by clinical synopsis from OMIM:

184900

Clinical features from OMIM:

184900

Symptoms:

 52 (show all 20)
  • sensorineural hearing impairment
  • strabismus
  • glaucoma
  • retinal detachment
  • nephrolithiasis
  • hypertension
  • thickened skin
  • muscle weakness
  • limitation of joint mobility
  • subcutaneous nodule
  • abnormality of the musculature
  • abnormality of lipid metabolism
  • short stature
  • type ii diabetes mellitus
  • impaired pain sensation
  • aplasia/hypoplasia of the skin
  • peripheral neuropathy
  • midface retrusion
  • lipoatrophy
  • lack of skin elasticity

HPO human phenotypes related to Stiff Skin Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 thickened skin hallmark (90%) HP:0001072
2 limitation of joint mobility hallmark (90%) HP:0001376
3 lack of skin elasticity hallmark (90%) HP:0100679
4 malar flattening occasional (7.5%) HP:0000272
5 sensorineural hearing impairment occasional (7.5%) HP:0000407
6 strabismus occasional (7.5%) HP:0000486
7 glaucoma occasional (7.5%) HP:0000501
8 retinal detachment occasional (7.5%) HP:0000541
9 nephrolithiasis occasional (7.5%) HP:0000787
10 hypertension occasional (7.5%) HP:0000822
11 muscle weakness occasional (7.5%) HP:0001324
12 abnormality of lipid metabolism occasional (7.5%) HP:0003119
13 skeletal muscle atrophy occasional (7.5%) HP:0003202
14 short stature occasional (7.5%) HP:0004322
15 type ii diabetes mellitus occasional (7.5%) HP:0005978
16 impaired pain sensation occasional (7.5%) HP:0007328
17 aplasia/hypoplasia of the skin occasional (7.5%) HP:0008065
18 lipoatrophy occasional (7.5%) HP:0100578
19 muscle weakness rare (5%) HP:0001324
20 short stature rare (5%) HP:0004322
21 lipodystrophy rare (5%) HP:0009125
22 peripheral neuropathy rare (5%) HP:0009830
23 flexion contracture HP:0001371
24 limitation of joint mobility HP:0001376
25 stiff skin HP:0030053

Drugs & Therapeutics for Stiff Skin Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Management of Compartment Syndrome With UltrafiltrationCompletedNCT00022815Phase 1
2Cause, Development, and Progression of Stiff-Person SyndromeCompletedNCT00030940
3New Phototherapy Device to Treat Patients With Crigler-Najjar DiseaseActive, not recruitingNCT02356978
4Stiffness of the Skin and Joints in Relation to Carpal Tunnel SyndromeNot yet recruitingNCT01081860

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 Syndrome25 23 FBN1
2 Stiff Skin25

Anatomical Context for Stiff Skin Syndrome

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MalaCards organs/tissues related to Stiff Skin Syndrome:

34
Skin, Eye, Skeletal muscle

Animal Models for Stiff Skin Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stiff Skin Syndrome:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0CTGF, FBN1, TGFB1, TGFB2
2MP:00053818.4CTGF, TGFB1, TGFB2, THBS1
3MP:00053678.3FBN1, TGFB1, TGFB2, THBS1
4MP:00107718.1COL1A2, CTGF, FBN1, TGFB1, THBS1
5MP:00053888.0CTGF, FBN1, TGFB1, TGFB2, THBS1
6MP:00053698.0COL1A2, FBN1, TGFB1, TGFB2, THBS1
7MP:00053847.5COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
8MP:00053717.3COL1A2, CTGF, FBN1, TGFB2, THBS1
9MP:00107687.3COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
10MP:00053857.2COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
11MP:00053787.1COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
12MP:00053907.1COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
13MP:00053767.0COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1

Publications for Stiff Skin Syndrome

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Articles related to Stiff Skin Syndrome:

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

Variations for Stiff Skin Syndrome

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

68
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)single nucleotide variantPathogenicrs267606799GRCh37Chr 15, 48760172: 48760172
2FBN1NM_000138.4(FBN1): c.4710G> C (p.Trp1570Cys)single nucleotide variantPathogenicrs267606799GRCh37Chr 15, 48760172: 48760172
3FBN1NM_000138.4(FBN1): c.4691G> C (p.Cys1564Ser)single nucleotide variantPathogenicrs267606800GRCh37Chr 15, 48760191: 48760191
4FBN1NM_000138.4(FBN1): c.4729T> G (p.Cys1577Gly)single nucleotide variantPathogenicrs267606801GRCh37Chr 15, 48760153: 48760153
5FBN1NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp)single nucleotide variantLikely pathogenic, 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 28)
idSuper pathwaysScoreTop Affiliating Genes
19.5CTGF, TGFB1
2
Show member pathways
9.5TGFB1, TGFB2
39.5TGFB1, TGFB2
49.5TGFB1, TGFB2
59.5TGFB1, TGFB2
6
Show member pathways
9.5TGFB1, TGFB2
79.5TGFB1, TGFB2
89.5TGFB1, TGFB2
99.5TGFB1, TGFB2
109.5TGFB1, TGFB2
119.2TGFB1, THBS1
12
Show member pathways
9.1FBN1, TGFB1, TGFB2
139.0COL1A2, THBS1
14
Show member pathways
9.0CTGF, TGFB1, TGFB2
159.0CTGF, TGFB1, TGFB2
169.0CTGF, TGFB1, TGFB2
17
Show member pathways
9.0CTGF, TGFB1, TGFB2
188.9COL1A2, TGFB1, TGFB2
198.9COL1A2, TGFB1, TGFB2
208.7TGFB1, TGFB2, THBS1
218.7TGFB1, TGFB2, THBS1
22
Show member pathways
8.7TGFB1, TGFB2, THBS1
23
Show member pathways
8.7TGFB1, TGFB2, THBS1
24
Show member pathways
8.6COL1A2, FBN1, THBS1
25
Show member pathways
7.9COL1A2, CTGF, FBN1, TGFB1, TGFB2
26
Show member pathways
7.9COL1A2, CTGF, FBN1, TGFB1, TGFB2
27
Show member pathways
7.6COL1A2, FBN1, TGFB1, TGFB2, THBS1
28
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
1proteinaceous extracellular matrixGO:00055789.3CTGF, FBN1, TGFB1
2platelet alpha granule lumenGO:00310939.3TGFB1, TGFB2, THBS1
3extracellular matrixGO:00310127.8COL1A2, FBN1, TGFB1, TGFB2, THBS1
4extracellular spaceGO:00056157.1COL1A2, CTGF, FBN1, TGFB1, TGFB2, THBS1
5extracellular regionGO:00055766.8COL1A2, 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
1SMAD protein import into nucleusGO:000718410.2TGFB1, TGFB2
2pathway-restricted SMAD protein phosphorylationGO:006038910.2TGFB1, TGFB2
3salivary gland morphogenesisGO:000743510.2TGFB1, TGFB2
4positive regulation of protein localization to nucleusGO:190018210.1TGFB1, TGFB2
5SMAD protein signal transductionGO:006039510.1TGFB1, TGFB2
6cellular response to insulin-like growth factor stimulusGO:199031410.1FBN1, TGFB1
7extrinsic apoptotic signaling pathwayGO:009719110.1TGFB1, TGFB2
8positive regulation of cell divisionGO:005178110.1TGFB1, TGFB2
9negative regulation of macrophage cytokine productionGO:001093610.1TGFB1, TGFB2
10negative regulation of immune responseGO:005077710.1TGFB1, TGFB2
11cell-cell junction organizationGO:004521610.0TGFB1, TGFB2
12positive regulation of collagen biosynthetic processGO:003296710.0CTGF, TGFB1
13epithelial to mesenchymal transitionGO:000183710.0TGFB1, TGFB2
14positive regulation of epithelial to mesenchymal transitionGO:001071810.0TGFB1, TGFB2
15positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.0TGFB1, TGFB2
16cellular response to transforming growth factor beta stimulusGO:007156010.0FBN1, TGFB1
17cartilage condensationGO:000150210.0CTGF, TGFB2
18cell growthGO:00160499.9TGFB1, TGFB2
19odontogenesisGO:00424769.9COL1A2, TGFB2
20negative regulation of epithelial cell proliferationGO:00506809.9TGFB1, TGFB2
21positive regulation of blood vessel endothelial cell migrationGO:00435369.9TGFB1, THBS1
22face morphogenesisGO:00603259.9TGFB1, TGFB2
23positive regulation of chemotaxisGO:00509219.8TGFB1, THBS1
24positive regulation of protein secretionGO:00507149.8TGFB1, TGFB2
25blood vessel developmentGO:00015689.7COL1A2, TGFB2
26positive regulation of protein kinase B signalingGO:00518979.7TGFB1, THBS1
27collagen fibril organizationGO:00301999.7COL1A2, TGFB2
28cellular response to growth factor stimulusGO:00713639.6TGFB1, THBS1
29positive regulation of fibroblast migrationGO:00107639.6TGFB1, THBS1
30negative regulation of blood vessel endothelial cell migrationGO:00435379.6TGFB1, THBS1
31response to woundingGO:00096119.5CTGF, TGFB1, TGFB2
32transforming growth factor beta receptor signaling pathwayGO:00071799.4COL1A2, TGFB1, TGFB2
33negative regulation of gene expressionGO:00106299.4CTGF, TGFB1, TGFB2
34skeletal system developmentGO:00015019.3COL1A2, FBN1, TGFB2
35positive regulation of gene expressionGO:00106289.2CTGF, TGFB1, TGFB2
36platelet degranulationGO:00025769.2TGFB1, TGFB2, THBS1
37response to glucoseGO:00097499.2CTGF, TGFB1, THBS1
38cell cycle arrestGO:00070509.1TGFB1, TGFB2, THBS1
39positive regulation of cell proliferationGO:00082849.0CTGF, TGFB1, TGFB2
40response to progesteroneGO:00325708.9TGFB1, TGFB2, THBS1
41response to hypoxiaGO:00016668.6TGFB1, TGFB2, THBS1
42extracellular matrix organizationGO:00301988.4COL1A2, FBN1, TGFB2, THBS1
43response to drugGO:00424938.4TGFB1, TGFB2, THBS1
44cell migrationGO:00164778.2CTGF, TGFB1, TGFB2, THBS1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1type III transforming growth factor beta receptor bindingGO:003471410.0TGFB1, TGFB2
2type II transforming growth factor beta receptor bindingGO:000511410.0TGFB1, TGFB2
3transforming growth factor beta receptor bindingGO:000516010.0TGFB1, TGFB2
4extracellular matrix structural constituentGO:00052019.8COL1A2, FBN1
5fibronectin bindingGO:00019689.3CTGF, THBS1
6glycoprotein bindingGO:00019489.2TGFB1, THBS1
7growth factor activityGO:00080839.0CTGF, TGFB1, TGFB2
8integrin bindingGO:00051788.4CTGF, FBN1, THBS1

Sources for Stiff Skin Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet