MCID: STF002
MIFTS: 36

Stiff Skin Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Stiff Skin Syndrome

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NIH Rare Diseases:42 Stiff skin syndrome is a connective tissue disorder. signs and symptoms tend to present at birth or in early childhood. children with this condition may have delayed growth but typically have normal learning and motor development. stiff skin syndrome causes hard, thick skin which can hinder joint movement. lesions on the stomach often have a "cobblestone" appearance. occasionally people with stiff skin syndrome have a loss of body fat (lipodystrophy), muscle weakness, extra hair (hypertrichosis) and/or short stature. while the actual prevalence of stiff skin syndrome is not known, only about 40 cases of have been reported in the literature. this condition is caused by mutations in the fbn1 gene and inherited in an autosomal dominant fashion. last updated: 11/4/2014

MalaCards based summary: Stiff Skin Syndrome is related to scleroderma and myeloma, and has symptoms including thick skin/pachydermia/orange skin, tight skin/lack of elasticity and dermal/subcutaneous infiltration/induration. An important gene associated with Stiff Skin Syndrome is FBN1 (fibrillin 1). Affiliated tissues include skin and kidney.

Wikipedia:65 Stiff skin syndrome (also known as \"Congenital fascial dystrophy\") is a cutaneous condition... more...

Descriptions from OMIM:46 184900,228020

Aliases & Classifications for Stiff Skin Syndrome

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Stiff Skin Syndrome, Aliases & Descriptions:

Name: Stiff Skin Syndrome 42 20 22 46 48 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


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Related Diseases for Stiff Skin Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1scleroderma10.3
2myeloma10.0
3scleredema10.0
4weill-marchesani syndrome 2, dominant9.9FBN1, MICD
5isolated ectopia lentis9.9MICD, FBN1
6geleophysic dysplasia 29.9MICD, FBN1
7marfan syndrome9.9FBN1, MICD
8acromicric dysplasia9.8FBN1, MICD
9mass syndrome9.8FBN1, MICD

Graphical network of 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:

184900,228020

Symptoms:

48 (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 amyotrophy 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 abnormality of the skin HP:0000951
25 flexion contracture HP:0001371
26 limitation of joint mobility HP:0001376

Drugs & Therapeutics for Stiff Skin Syndrome

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Drug clinical trials:

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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 Syndrome20 22 FBN1

Anatomical Context for Stiff Skin Syndrome

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MalaCards organs/tissues related to Stiff Skin Syndrome:

32
Skin, Kidney

Animal Models for Stiff Skin Syndrome or affiliated genes

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Publications for Stiff Skin Syndrome

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Articles related to Stiff Skin Syndrome:

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

Variations for Stiff Skin Syndrome

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

64
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:

6
id Gene Name 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 pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022

Expression for genes affiliated with Stiff Skin Syndrome

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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

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Compounds for genes affiliated with Stiff Skin Syndrome

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GO Terms for genes affiliated with Stiff Skin Syndrome

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Products for genes affiliated with Stiff Skin Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Stiff Skin Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet