MCID: LCL006
MIFTS: 51

Localized Scleroderma malady

Genetic diseases, Rare diseases, Skin diseases, Nephrological diseases, Respiratory diseases, Bone diseases categories

Summaries for Localized Scleroderma

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NIH Rare Diseases:41 Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. collagen is a protein normally present in our skin that provides structural support. however, when too much collagen is made, the skin becomes stiff and hard. localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. for some people, localized scleroderma is serious and disabling. there are two generally recognized types of localized scleroderma: morphea and linear.   last updated: 4/3/2012

MalaCards based summary: Localized Scleroderma, also known as morphea, is related to keloids and hypertrophic scars, and has symptoms including dry skin, hypopigmented skin patches and amyotrophy. An important gene associated with Localized Scleroderma is DEFB1 (defensin, beta 1), and among its related pathways are Defensins and TGF-beta Signaling Pathway. The compounds hbd2 and alginate have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone marrow, and related mouse phenotype immune system.

Wikipedia:63 Morphea, also known as \"localized scleroderma\", or \"circumscribed scleroderma\", involves isolated... more...

Aliases & Classifications for Localized Scleroderma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 60UMLS, 43Novoseek, 55SNOMED-CT, 27ICD9CM, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Localized Scleroderma, Aliases & Descriptions:

Name: Localized Scleroderma 9 41 11 47 60
Morphea 9 41 43 60
Unspecified Circumscribed Scleroderma 9
Localized Fibrosing Scleroderma 47
Circumscribed Scleroderma Nos 9
Scleroderma, Circumscribed 9
 
Circumscribed Scleroderma 9
Scleroderma, Localized 41
Localised Morphoea 9
Localized Morphea 9
Localized 9


Classifications:

Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
localized scleroderma:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:8472
ICD9CM27 701.0
MeSH33 D012594
NCIt38 C72069
Orphanet47 90289
MESH via Orphanet34 D012594
ICD10 via Orphanet26 L94.0
UMLS via Orphanet61 C0036420

Related Diseases for Localized Scleroderma

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Diseases in the Scleroderma family:

Systemic Scleroderma localized scleroderma
Juvenile Scleroderma

Diseases related to Localized Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1keloids30.1SMAD7, DCN, MMP13
2hypertrophic scars30.1SMAD7, DCN
3systemic scleroderma30.0DCN, TNFSF13B
4rheumatoid arthritis29.9MMP13, DCN, TNFSF13B
5scleroderma11.3
6oral candidiasis10.4DEFB4A
7candidiasis10.4DEFB4A
8lupus erythematosus10.4
9fasciitis10.3
10eosinophilic fasciitis10.3
11panniculitis10.3
12breast cancer10.3
13lichen sclerosus10.3
14tonsillitis10.2DEFB1, DEFB4A
15acne10.2DEFB1, DEFB4A
16acrodermatitis10.2
17duodenal ulcer10.2DEFB1, DEFB4A
18cholesteatoma10.2DEFB4A, DEFB1
19gastritis10.2DEFB1, DEFB4A
20chronic ulcer of skin10.2DEFB4A, MMP13
21systemic lupus erythematosus10.2
22arthritis10.2
23hepatitis10.2
24skin disease10.2
25hepatitis c10.2
26facial hemiatrophy10.2
27calcinosis10.2
28eosinophilia10.2
29esophagitis10.2
30myopathy10.2
31atrophoderma of pierini and pasini10.2
32linear scleroderma10.2
33blindness10.2
34colitis10.2DEFB1, DEFB4A
35rubella10.2
36congenital rubella10.2
37lipodermatosclerosis10.2
38abdominal aortic aneurysm10.1DCN, MMP13
39arthropathy10.1MMP13, DCN
40gastric adenocarcinoma10.1MMP13, DEFB4A
41basal cell carcinoma10.1DCN, MMP13
42granuloma annulare10.1
43mycosis fungoides10.1
44morpheaform basal cell carcinoma10.1
45herpes zoster10.1
46pneumonia10.1DEFB1, DEFB4A
47reynolds syndrome10.0
48alopecia10.0
49bronchiolitis obliterans10.0
50gingival recession10.0

Graphical network of the top 20 diseases related to Localized Scleroderma:



Diseases related to localized scleroderma

Symptoms for Localized Scleroderma

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Symptoms:

 47 (show all 11)
  • anomalies of skin, subcutaneous tissue and mucosae
  • dry/squaly skin/exfoliation
  • dermal/subcutaneous infiltration/induration
  • irregular/patchy skin hypopigmentation
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • claw hand/retracted fingers
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • claw toes/retracted toes
  • musculo-tendinous retractions
  • asymmetry of the body/hemiatrophy/hemihyperthrophy

HPO human phenotypes related to Localized Scleroderma:

id Description Frequency HPO Source Accession
1 dry skin hallmark (90%) HP:0000958
2 hypopigmented skin patches hallmark (90%) HP:0001053
3 amyotrophy typical (50%) HP:0003202
4 camptodactyly of toe occasional (7.5%) HP:0001836
5 lower limb asymmetry occasional (7.5%) HP:0100559

Drugs & Therapeutics for Localized Scleroderma

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Drug clinical trials:

Search ClinicalTrials for Localized Scleroderma

Search NIH Clinical Center for Localized Scleroderma

Genetic Tests for Localized Scleroderma

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Anatomical Context for Localized Scleroderma

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MalaCards organs/tissues related to Localized Scleroderma:

31
Skin, Breast, Bone marrow, Bone, Testes, Eye, Brain, Heart, Thyroid

Animal Models for Localized Scleroderma or affiliated genes

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MGI Mouse Phenotypes related to Localized Scleroderma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1DCN, TNFSF13B, SMAD7, DEFB1

Publications for Localized Scleroderma

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Articles related to Localized Scleroderma:

(show top 50)    (show all 332)
idTitleAuthorsYear
1
Antiphospholipid antibodies in localized scleroderma: the potential role of screening tests for the detection of antiphospholipid syndrome. (25097470)
2014
2
Pirfenidone gel in patients with localized scleroderma: a phase II study. (25533576)
2014
3
microRNA-7 down-regulation mediates excessive collagen expression in localized scleroderma. (22965811)
2013
4
Bath psoralen-UVA photochemotherapy for localized scleroderma: experience from a single institute. (24001380)
2013
5
Pulsed dye laser in the treatment of localized scleroderma and its effects on CD34+ and Factor XIIIa+ cells: an immunohistochemical study. (23645504)
2013
6
Coexistence of lichen sclerosus and morphea: a retrospective analysis of 472 patients with localized scleroderma from a German tertiary referral center. (22533994)
2012
7
Localized scleroderma: assessment of the therapeutic response to phototherapy. (22481652)
2012
8
Localized scleroderma associated with chronic hepatitis C. (23213578)
2012
9
Case of juvenile localized scleroderma with joint sclerosis and SjAPgren's syndrome in a child with precocious puberty. (21658114)
2011
10
Case of localized scleroderma associated with osteomyelitis. (20175843)
2010
11
Localized scleroderma in children: clinical, diagnostic and therapeutic aspects. (19503984)
2009
12
Physical burden of symptoms in patients with localized scleroderma and eosinophilic fasciitis. (18936410)
2008
13
Immunohistochemical characterization of the cellular infiltrate in localized scleroderma. (18412858)
2008
14
Elevated serum BAFF levels in patients with localized scleroderma in contrast to other organ-specific autoimmune diseases. (17222220)
2007
15
Morphea (localized scleroderma). (17452238)
2007
16
Collagen degradation products and proinflammatory cytokines in systemic and localized scleroderma. (17448296)
2007
17
Increased serum levels of TGFbeta1 in children with localized scleroderma. (18053185)
2007
18
Ultraviolet A1-induced downregulation of human beta-defensins and interleukin-6 and interleukin-8 correlates with clinical improvement in localized scleroderma. (16911288)
2006
19
Follow-up efficacy of integrative Chinese and Western drugs on localized scleroderma with vitamine B6 and Xuefu Zhuyu decoction. (15975305)
2005
20
Localized scleroderma is an autoimmune disorder. (15561734)
2005
21
Localized scleroderma: response to occlusive treatment with tacrolimus ointment. (15656828)
2005
22
Novel autoantibody to Cu/Zn superoxide dismutase in patients with localized scleroderma. (15086540)
2004
23
Antinucleosome antibody is a major autoantibody in localized scleroderma. (15606513)
2004
24
Evaluation of medium-dose UVA1 phototherapy in localized scleroderma with the cutometer and fast Fourier transform method. (14571073)
2003
25
Topical tacrolimus in the treatment of localized scleroderma. (14721783)
2003
26
Comparative biochemistry of human skin: glycosaminoglycans from different body sites in normal subjects and in patients with localized scleroderma. (12602961)
2003
27
Localized scleroderma in a woman irradiated at two sites for endometrial and breast carcinoma: a case history and a review of the literature. (12631225)
2003
28
Effectiveness of topical calcitriol for localized scleroderma. (9918276)
1999
29
Low-dose UVA phototherapy for treatment of localized scleroderma. (9448200)
1998
30
PUVA therapy in localized scleroderma. (9643343)
1998
31
Double-blind, placebo-controlled study of intralesional interferon gamma for the treatment of localized scleroderma. (9091475)
1997
32
Circulatory system in children with localized scleroderma. (9142712)
1997
33
High-dose UVA1 radiation therapy for localized scleroderma. (9204059)
1997
34
Bronchiolitis obliterans in a patient with localized scleroderma treated with D-penicillamine. (8804954)
1996
35
Treatment of severe forms of localized scleroderma with oral corticosteroids: follow-up study on 17 patients. (8179352)
1994
36
Borrelia burgdorferi and localized scleroderma. (7954205)
1994
37
Localized scleroderma after exposure to organic solvents. (7873829)
1994
38
Treatment of linear localized scleroderma with the anti-allergic drug, tranilast. (7525127)
1994
39
Localized scleroderma. (8076261)
1994
40
Localized scleroderma and hemiatrophy in association with antibodies to double-stranded DNA. (8506209)
1993
41
Prevalence and characteristics of anti-single-stranded DNA antibodies in localized scleroderma. Comparison with systemic lupus erythematosus. (1863075)
1991
42
Auto-immune disorders in localized scleroderma. (2078051)
1990
43
The relevance of elevated Borrelia burgdorferi titres in localized scleroderma. (2605808)
1989
44
Localized scleroderma. (2702053)
1989
45
Frequency, levels, and significance of blood eosinophilia in systemic sclerosis, localized scleroderma, and eosinophilic fasciitis. (3668010)
1987
46
Localized scleroderma (morphea) and antibody to Borrelia burgdorferi. (3308981)
1987
47
Treatment of localized scleroderma and lichen sclerosus with etretinate. (6203311)
1984
48
Skin thickness and collagen content in progressive systemic sclerosis and localized scleroderma. (420706)
1979
49
Concurrent localized scleroderma and discoid lupus erythematosus. Cutaneous 'mixed' or 'overlap' syndrome. (718182)
1978
50
The prognosis of localized scleroderma. (13593870)
1958

Variations for Localized Scleroderma

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Expression for genes affiliated with Localized Scleroderma

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Search GEO for disease gene expression data for Localized Scleroderma.

Pathways for genes affiliated with Localized Scleroderma

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Pathways related to Localized Scleroderma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6DEFB1, DEFB4A
2
Show member pathways
9.3DCN, SMAD7

Compounds for genes affiliated with Localized Scleroderma

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Compounds related to Localized Scleroderma according to GeneCards Suite gene sharing:

(show all 31)
idCompoundScoreTop Affiliating Genes
1hbd24310.0DEFB1, DEFB4A
2alginate439.8DCN, MMP13
3hydroxyapatite439.7MMP13, DCN
4sp 60012543 5910.7DEFB4A, MMP13
5procollagen439.7DCN, MMP13
6chondroitin sulfate43 2410.7DCN, MMP13
7p002439.6MMP13, DEFB4A
8glycosaminoglycan439.6MMP13, DCN
9bleomycin43 1210.6DCN, SMAD7
10agarose439.5MMP13, DCN
11hyaluronic acid43 2410.5DCN, MMP13
12rantes439.5MMP13, DEFB4A, DEFB1
13heparan sulfate43 2410.4DCN, DEFB1
14glyceraldehyde 3-phosphate439.3DCN, DEFB4A, MMP13
15paraffin439.3DCN, MMP13, DEFB4A
16genistein43 28 59 2 24 1214.3DCN, DEFB4A, MMP13
17heparin43 28 24 1212.3DCN, MMP13, DEFB4A
18sb 20358043 5910.2DEFB4A, SMAD7, MMP13
19hydroxyproline43 24 1211.2SMAD7, DCN, MMP13
20tgf beta1439.2SMAD7, DCN, MMP13
21matrigel439.2DCN, SMAD7, MMP13
22oligonucleotide439.0DCN, SMAD7, MMP13
23vegf439.0SMAD7, DCN, MMP13
24estrogen439.0MMP13, DEFB4A, DCN
25nacl439.0DEFB1, DCN, DEFB4A, MMP13
26glucose438.9DCN, DEFB1, SMAD7
27retinoic acid43 249.9DEFB1, MMP13, DEFB4A, DCN
28pd 98,059438.7MMP13, DCN, SMAD7, DEFB4A
29cysteine438.7DEFB4A, MMP13, DCN
30tyrosine438.7SMAD7, DEFB4A, DCN, MMP13
31dexamethasone43 49 28 1211.3SMAD7, MMP13, DEFB4A, DEFB1, DCN

GO Terms for genes affiliated with Localized Scleroderma

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Cellular components related to Localized Scleroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00057969.0DEFB4A, DEFB1, DCN
2extracellular spaceGO:00056158.6MMP13, TNFSF13B, DCN
3extracellular regionGO:00055768.3MMP13, DEFB4A, DEFB1, DCN

Biological processes related to Localized Scleroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chemotaxisGO:00069359.6DEFB1, DEFB4A
2defense response to bacteriumGO:00427429.5DEFB1, DEFB4A
3extracellular matrix disassemblyGO:00226179.1MMP13, DCN
4immune responseGO:00069558.8TNFSF13B, DEFB1, DEFB4A

Molecular functions related to Localized Scleroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.3DCN, SMAD7

Products for genes affiliated with Localized Scleroderma

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  • Antibodies
  • Proteins
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  • Kits and Assays

Sources for Localized Scleroderma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet