MCID: LCL006
MIFTS: 59

Localized Scleroderma malady

Genetic diseases, Rare diseases, Skin diseases, Immune diseases, Nephrological diseases, Respiratory diseases, Bone diseases categories
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Summaries for Localized Scleroderma

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NIH Rare Diseases:42 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 anomalies of skin, subcutaneous tissue and mucosae, dry/squaly skin/exfoliation and dermal/subcutaneous infiltration/induration. 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, and related mouse phenotype immune system.

Wikipedia:65 Morphea, also known as \"localized scleroderma\", or \"circumscribed scleroderma\", involves isolated... more...

Aliases & Classifications for Localized Scleroderma

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 44Novoseek, 57SNOMED-CT, 34MeSH, 39NCIt, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Localized Scleroderma, Aliases & Descriptions:

Name: Localized Scleroderma 8 42 10 48 62
Morphea 8 42 44
Scleroderma, Circumscribed 8 62
Unspecified Circumscribed Scleroderma 8
Localized Fibrosing Scleroderma 48
Circumscribed Scleroderma Nos 8
 
Circumscribed Scleroderma 8
Scleroderma, Localized 42
Localised Morphoea 8
Localized Morphea 8
Localized 8


Classifications:

Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
localized scleroderma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


External Ids:

Disease Ontology8 DOID:8472
MeSH34 D012594
NCIt39 C72069
ICD9CM27 701.0
MESH via Orphanet35 D012594
ICD10 via Orphanet26 L94.0
UMLS via Orphanet63 C0036420

Related Diseases for Localized Scleroderma

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Diseases in the Systemic Scleroderma family:

localized scleroderma Scleroderma
Juvenile Scleroderma

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

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1keloids30.1SMAD7, DCN, MMP13
2hypertrophic scars30.1SMAD7, DCN
3sarcoidosis30.1DCN, DEFB1, DEFB4A
4systemic scleroderma29.9DCN, TNFSF13B
5rheumatoid arthritis29.9MMP13, DCN, TNFSF13B
6scleroderma11.3
7oral candidiasis10.4DEFB4A
8candidiasis10.4DEFB4A
9lupus erythematosus10.4
10fasciitis10.3
11eosinophilic fasciitis10.3
12facial hemiatrophy10.3
13breast cancer10.3
14lichen sclerosus10.3
15tonsillitis10.3DEFB1, DEFB4A
16duodenal ulcer10.2DEFB1, DEFB4A
17acrodermatitis10.2
18cholesteatoma10.2DEFB4A, DEFB1
19gastritis10.2DEFB1, DEFB4A
20colitis10.2DEFB1, DEFB4A
21arthritis10.2
22hepatitis10.2
23progressive hemifacial atrophy10.2
24skin disease10.2
25systemic lupus erythematosus10.2
26vitiligo10.2
27hepatitis c10.2
28calcinosis10.2
29eosinophilia10.2
30lipodystrophy10.2
31myopathy10.2
32atrophoderma of pierini and pasini10.2
33linear scleroderma10.2
34blindness10.2
35abdominal aortic aneurysm10.2DCN, MMP13
36rubella10.1
37panniculitis10.1
38congenital rubella10.1
39lipodermatosclerosis10.1
40subcutaneous panniculitis-like t-cell lymphoma10.1
41arthropathy10.1MMP13, DCN
42gastric adenocarcinoma10.1MMP13, DEFB4A
43basal cell carcinoma10.1DCN, MMP13
44hypotrichosis10.1
45pneumonia10.1DEFB1, DEFB4A
46granuloma annulare10.1
47morpheaform basal cell carcinoma10.1
48herpes zoster10.1
49glomerulonephritis10.0DCN, SMAD7
50periodontitis10.0MMP13, DEFB1, DEFB4A

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:

48 (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:

32
Skin, Breast, Bone, Bone marrow, Testes, Eye, Brain, Heart, Thyroid

Animal Models for Localized Scleroderma or affiliated genes

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MGI Mouse Phenotypes related to Localized Scleroderma:

36
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 328)
idTitleAuthorsYear
1
Antiphospholipid antibodies in localized scleroderma: the potential role of screening tests for the detection of antiphospholipid syndrome. (25097470)
2014
2
microRNA-7 down-regulation mediates excessive collagen expression in localized scleroderma. (22965811)
2013
3
Bath psoralen-UVA photochemotherapy for localized scleroderma: experience from a single institute. (24001380)
2013
4
Pulsed dye laser in the treatment of localized scleroderma and its effects on CD34+ and Factor XIIIa+ cells: an immunohistochemical study. (23645504)
2013
5
Coexistence of lichen sclerosus and morphea: a retrospective analysis of 472 patients with localized scleroderma from a German tertiary referral center. (22533994)
2012
6
Localized scleroderma: assessment of the therapeutic response to phototherapy. (22481652)
2012
7
Localized scleroderma associated with chronic hepatitis C. (23213578)
2012
8
Case of juvenile localized scleroderma with joint sclerosis and SjAPgren's syndrome in a child with precocious puberty. (21658114)
2011
9
Case of localized scleroderma associated with osteomyelitis. (20175843)
2010
10
Localized scleroderma in children: clinical, diagnostic and therapeutic aspects. (19503984)
2009
11
Physical burden of symptoms in patients with localized scleroderma and eosinophilic fasciitis. (18936410)
2008
12
Immunohistochemical characterization of the cellular infiltrate in localized scleroderma. (18412858)
2008
13
Elevated serum BAFF levels in patients with localized scleroderma in contrast to other organ-specific autoimmune diseases. (17222220)
2007
14
Morphea (localized scleroderma). (17452238)
2007
15
Collagen degradation products and proinflammatory cytokines in systemic and localized scleroderma. (17448296)
2007
16
Increased serum levels of TGFbeta1 in children with localized scleroderma. (18053185)
2007
17
Ultraviolet A1-induced downregulation of human beta-defensins and interleukin-6 and interleukin-8 correlates with clinical improvement in localized scleroderma. (16911288)
2006
18
Follow-up efficacy of integrative Chinese and Western drugs on localized scleroderma with vitamine B6 and Xuefu Zhuyu decoction. (15975305)
2005
19
Localized scleroderma is an autoimmune disorder. (15561734)
2005
20
Localized scleroderma: response to occlusive treatment with tacrolimus ointment. (15656828)
2005
21
Novel autoantibody to Cu/Zn superoxide dismutase in patients with localized scleroderma. (15086540)
2004
22
Antinucleosome antibody is a major autoantibody in localized scleroderma. (15606513)
2004
23
Evaluation of medium-dose UVA1 phototherapy in localized scleroderma with the cutometer and fast Fourier transform method. (14571073)
2003
24
Topical tacrolimus in the treatment of localized scleroderma. (14721783)
2003
25
Comparative biochemistry of human skin: glycosaminoglycans from different body sites in normal subjects and in patients with localized scleroderma. (12602961)
2003
26
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
27
A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. (10651089)
1999
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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Expression patterns in normal tissues for genes affiliated with Localized Scleroderma

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/GeneDecks:

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/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1hbd24410.0DEFB1, DEFB4A
2alginate449.8DCN, MMP13
3hydroxyapatite449.7MMP13, DCN
4sp 60012544 6110.7MMP13, DEFB4A
5procollagen449.7DCN, MMP13
6chondroitin sulfate44 2410.7MMP13, DCN
7p002449.6DEFB4A, MMP13
8glycosaminoglycan449.6DCN, MMP13
9bleomycin44 1110.6DCN, SMAD7
10agarose449.5MMP13, DCN
11hyaluronic acid44 2410.5MMP13, DCN
12rantes449.5MMP13, DEFB1, DEFB4A
13heparan sulfate44 2410.4DCN, DEFB1
14glyceraldehyde 3-phosphate449.3DEFB4A, DCN, MMP13
15paraffin449.3DEFB4A, DCN, MMP13
16genistein44 28 61 2 24 1114.3MMP13, DCN, DEFB4A
17heparin44 28 24 1112.3MMP13, DCN, DEFB4A
18sb 20358044 6110.2MMP13, SMAD7, DEFB4A
19hydroxyproline44 24 1111.2MMP13, DCN, SMAD7
20tgf beta1449.2SMAD7, DCN, MMP13
21matrigel449.2MMP13, DCN, SMAD7
22oligonucleotide449.0SMAD7, DCN, MMP13
23vegf449.0MMP13, DCN, SMAD7
24estrogen449.0DEFB4A, DCN, MMP13
25nacl449.0MMP13, DCN, DEFB1, DEFB4A
26glucose448.9DCN, SMAD7, DEFB1
27retinoic acid44 249.9DEFB4A, DEFB1, DCN, MMP13
28pd 98,059448.7DEFB4A, SMAD7, DCN, MMP13
29cysteine448.7MMP13, DCN, DEFB4A
30tyrosine448.7DEFB4A, SMAD7, DCN, MMP13
31dexamethasone44 50 28 1111.3DEFB4A, DEFB1, SMAD7, DCN, MMP13

GO Terms for genes affiliated with Localized Scleroderma

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Cellular components related to Localized Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.0DCN, DEFB1, DEFB4A
2extracellular spaceGO:0056158.6MMP13, DCN, TNFSF13B
3extracellular regionGO:0055768.3DEFB4A, DEFB1, DCN, MMP13

Biological processes related to Localized Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chemotaxisGO:0069359.6DEFB1, DEFB4A
2defense response to bacteriumGO:0427429.5DEFB1, DEFB4A
3extracellular matrix disassemblyGO:0226179.1MMP13, DCN
4immune responseGO:0069558.8TNFSF13B, DEFB1, DEFB4A

Molecular functions related to Localized Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:0055189.3DCN, SMAD7

Products for genes affiliated with Localized Scleroderma

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  • Antibodies
  • Proteins
  • Lysates

Sources for Localized Scleroderma

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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