MCID: STF002
MIFTS: 48

Stiff Skin Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Stiff Skin Syndrome

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Aliases & Descriptions for Stiff Skin Syndrome:

Name: Stiff Skin Syndrome 49 11 45 22 51 24 65 67
 
Ssks 22 67


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 184900
Orphanet51 2833
MedGen34 C1861456
MeSH36 D012873

Summaries for Stiff Skin Syndrome

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NIH Rare Diseases:45 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 scleroderma and marfan 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 Integrin cell surface interactions and Inflammatory Response Pathway. Affiliated tissues include skin, eye and skeletal muscle, and related mouse phenotypes are integument and muscle.

OMIM:49 Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and... (184900) more...

UniProtKB/Swiss-Prot:67 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:68 Stiff skin syndrome (also known as \"Congenital fascial dystrophy\") is a cutaneous condition... more...

Related Diseases for Stiff Skin Syndrome

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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:

 51 (show all 24)
  • thick skin/pachydermia/orange skin
  • tight skin/lack of elasticity
  • dermal/subcutaneous infiltration/induration
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • mid-facial hypoplasia/short/small midface
  • glaucoma
  • retinal detachment
  • strabismus/squint
  • sensorineural deafness/hearing loss
  • skin hypoplasia/aplasia/atrophy
  • lipoatrophy
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • chronic arterial hypertension
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • insulin-independent/type 2 diabetes
  • peripheral neuropathy
  • insensitivity to pain
  • muscle anomalies
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • abnormal fat distribution/lipodystrophy
  • short stature/dwarfism/nanism

HPO human phenotypes related to Stiff Skin Syndrome:

(show all 26)
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 autosomal dominant inheritance HP:0000006
24 flexion contracture HP:0001371
25 limitation of joint mobility HP:0001376
26 stiff skin HP:0030053

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
1Glutamic AcidNutraceutical187

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 Syndrome22 24 FBN1

Anatomical Context for Stiff Skin Syndrome

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MalaCards organs/tissues related to Stiff Skin Syndrome:

33
Skin, Eye, Skeletal muscle, Kidney

Animal Models for Stiff Skin Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stiff Skin Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4COL1A2, CTGF, FBN1, THBS1
2MP:00053698.3COL1A2, FBN1, TGFB2, THBS1
3MP:00053907.9COL1A2, CTGF, FBN1, TGFB2, THBS1
4MP:00053717.9COL1A2, CTGF, FBN1, TGFB2, THBS1
5MP:00053847.8COL1A2, CTGF, FBN1, TGFB2, THBS1
6MP:00053887.8CTGF, FBN1, TGFB2, THBS1
7MP:00053857.7COL1A2, CTGF, FBN1, TGFB2, THBS1
8MP:00107687.5COL1A2, CTGF, FBN1, TGFB2, THBS1
9MP:00053787.4COL1A2, CTGF, FBN1, TGFB2, THBS1

Publications for Stiff Skin Syndrome

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Articles related to Stiff Skin Syndrome:

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

Variations for Stiff Skin Syndrome

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

67
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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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:00310939.7TGFB2, THBS1
2extracellular matrixGO:00310128.1COL1A2, FBN1, TGFB2, THBS1
3extracellular spaceGO:00056157.5COL1A2, CTGF, FBN1, TGFB2, THBS1
4extracellular regionGO:00055767.2COL1A2, CTGF, FBN1, TGFB2, THBS1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:00226179.8COL1A2, FBN1
2response to glucoseGO:00097499.8CTGF, THBS1
3odontogenesisGO:00424769.7COL1A2, TGFB2
4response to progesteroneGO:00325709.7TGFB2, THBS1
5platelet degranulationGO:00025769.7TGFB2, THBS1
6response to woundingGO:00096119.6CTGF, TGFB2
7cell cycle arrestGO:00070509.6TGFB2, THBS1
8blood vessel developmentGO:00015689.5COL1A2, TGFB2
9transforming growth factor beta receptor signaling pathwayGO:00071799.5COL1A2, TGFB2
10collagen fibril organizationGO:00301999.5COL1A2, TGFB2
11cartilage condensationGO:00015029.4CTGF, TGFB2
12skeletal system developmentGO:00015019.0COL1A2, FBN1, TGFB2
13blood coagulationGO:00075968.6COL1A2, TGFB2, THBS1
14cell migrationGO:00164778.4CTGF, TGFB2, THBS1
15platelet activationGO:00301688.3COL1A2, TGFB2, THBS1
16extracellular matrix organizationGO:00301988.2COL1A2, FBN1, TGFB2, THBS1

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

idNameGO IDScoreTop Affiliating Genes
1fibronectin bindingGO:00019689.5CTGF, THBS1
2extracellular matrix structural constituentGO:00052019.5COL1A2, FBN1
3integrin bindingGO:00051788.8CTGF, FBN1, THBS1

Sources for Stiff Skin Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet