MCID: STF002
MIFTS: 27

Stiff Skin Syndrome malady

Skin category

Summaries for Stiff Skin Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Stiff skin syndrome is a connective tissue disorder characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes stiff joints. other occasional findings include lipodystrophy (loss of body fat), muscle weakness, and short stature. only about 40 cases have been reported in the literature. this condition is thought to be caused by mutations in the fbn1 gene and inherited in an autosomal dominant fashion. last updated: 6/15/2011

MalaCards: Stiff Skin Syndrome is related to n syndrome and scleredema, and has symptoms including autosomal dominant inheritance, chronic arterial hypertension and muscle weakness/flaccidity. An important gene associated with Stiff Skin Syndrome is FBN1 (fibrillin 1). Affiliated tissues include skin.

Wikipedia:64 Stiff skin syndrome (also known as \"Congenital fascial dystrophy\") is a cutaneous condition... more...

Description from OMIM:47 184900,228020

Aliases & Classifications for Stiff Skin Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Aliases & Descriptions:

stiff skin syndrome 43 20 22 47 49 61


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Related Diseases for Stiff Skin Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Stiff Skin Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1n syndrome10.2
2scleredema10.0
3image syndrome10.0

Clinical Features for Stiff Skin Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

184900,228020

Clinical synopsis from OMIM:

184900

Symptoms:

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

Drugs & Therapeutics for Stiff Skin Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Stiff Skin Syndrome

Genetic Tests for Stiff Skin Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Stiff Skin Syndrome:

id Genetic test Affiliating Genes
1 Stiff Skin Syndrome20 22 FBN1

Anatomical Context for Stiff Skin Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Stiff Skin Syndrome:

33
Skin

Animal Models for Stiff Skin Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Stiff Skin Syndrome

Sources:
51PubMed
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Articles related to Stiff Skin Syndrome:

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

Genetic Variations for Stiff Skin Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Stiff Skin Syndrome:

63
id Symbol AA change Variation SNP ID
1FBN1p.Cys1564SerVAR_064046
2FBN1p.Trp1570CysVAR_064047
3FBN1p.Cys1577GlyVAR_064048
4FBN1p.Gly1594AspVAR_064049

Expression for genes affiliated with Stiff Skin Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Stiff Skin Syndrome

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Pathways for genes affiliated with Stiff Skin Syndrome

Compounds for genes affiliated with Stiff Skin Syndrome

GO Terms for genes affiliated with Stiff Skin Syndrome

Products for genes affiliated with Stiff Skin Syndrome

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Sources for Stiff Skin Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet