MCID: STF002
MIFTS: 33

Stiff Skin Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Stiff Skin Syndrome

About this section

Aliases & Descriptions for Stiff Skin Syndrome:

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

Characteristics:

HPO:

61
stiff skin syndrome:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 184900
Orphanet51 2833
MedGen34 C1861456
MeSH36 D012873
UMLS65 C1861456

Summaries for Stiff Skin Syndrome

About this section
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 marfan syndrome and myeloma, 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). Affiliated tissues include skin, eye and skeletal 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1marfan syndrome9.7
2myeloma9.7
3scleredema9.7

Symptoms for Stiff Skin Syndrome

About this section

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 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 peripheral neuropathy rare (5%) HP:0009830
20 lipodystrophy rare (5%) HP:0009125
21 short stature rare (5%) HP:0004322
22 muscle weakness rare (5%) HP:0001324
23 stiff skin HP:0030053
24 limitation of joint mobility HP:0001376
25 flexion contracture HP:0001371

Drugs & Therapeutics for Stiff Skin Syndrome

About this section

Drugs for Stiff Skin Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunoglobulins4477
2Autoantibodies117
3Antibodies4477
4Glutamic AcidNutraceutical201

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

About this section

Genetic tests related to Stiff Skin Syndrome:

id Genetic test Affiliating Genes
1 Stiff Skin Syndrome22 FBN1

Anatomical Context for Stiff Skin Syndrome

About this section

MalaCards organs/tissues related to Stiff Skin Syndrome:

33
Skin, Eye, Skeletal muscle, Kidney, T cells, Endothelial, Pituitary

Animal Models for Stiff Skin Syndrome or affiliated genes

About this section

Publications for Stiff Skin Syndrome

About this section

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
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. (20375004)
2010
12
Familial localized stiff skin syndrome. (20618510)
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

About this section

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

About this section
Search GEO for disease gene expression data for Stiff Skin Syndrome.

Pathways for genes affiliated with Stiff Skin Syndrome

About this section

GO Terms for genes affiliated with Stiff Skin Syndrome

About this section

Sources for Stiff Skin Syndrome

About this section
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