MCID: LCL006
MIFTS: 64

Localized Scleroderma malady

Skin category

Summaries for Localized Scleroderma

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Localized Scleroderma, also known as morphea, is related to systemic scleroderma and adenocarcinoma, 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 Rheumatoid arthritis and IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types. The compounds estrogen and gm-csf have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and heart, and related mouse phenotypes are integument and homeostasis/metabolism.

Wikipedia:64 Morphea, also known as \"localized scleroderma\", or \"circumscribed scleroderma\", involves isolated... more...

Aliases & Classifications for Localized Scleroderma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 61UMLS, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
localized scleroderma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

localized scleroderma 8 43 10 49 61
morphea 8 43 45
unspecified circumscribed scleroderma 8
localized fibrosing scleroderma 49
circumscribed scleroderma nos 8
scleroderma, circumscribed 8
circumscribed scleroderma 8
scleroderma, localized 43
localised morphoea 8
localized morphea 8
localized 8


External Ids:

Disease Ontology8 DOID:8472
MeSH35 D012594
NCIt40 C72069
ICD9CM27 701.0
MESH via Orphanet36 D012594
ICD10 via Orphanet26 L94.0
SNOMED-CT via Orphanet58 201048007
UMLS via Orphanet62 C0036420

Related Diseases for Localized Scleroderma

Sources:
17GeneCards, 18GeneDecks
See all sources

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 2034)
idRelated DiseaseScoreTop Affiliating Genes
1systemic scleroderma31.1CTGF
2adenocarcinoma31.0CCL5, CTGF, BMP6, DCN, MMP13, SMAD7
3adenoma30.9ITGAV, DCN
4synovitis30.7MMP13, MMP1
5colorectal cancer30.5CTGF, BMP6, ITGAV, MMP13, MMP1, SMAD7
6alzheimer's disease30.5DCN, CTGF
7bullous pemphigoid30.5CCL5, TNFSF13B, IL13
8cystic fibrosis30.4DEFB1, DEFB103B, DEFB4A
9cutaneous leishmaniasis30.4IL4, IL13
10allergic rhinitis30.4IL4, IL13, CCL5
11tuberculosis30.4DEFB4A, DCN, IL2RA, IL4
12asthma30.4IL13, IL4
13systemic lupus erythematosus30.3CCL5, TNFSF13B, CD40LG, IL2RA, IL4
14basal cell carcinoma30.3MMP1, MMP13, DCN
15atherosclerosis30.3CCL5, CTGF, BMP6, DCN, CD40LG, MMP13
16oral cancer30.3MMP1
17abdominal aortic aneurysm30.2MMP1, MMP13, DCN
18hepatitis c30.2TNFSF13B, CD40LG, IL4, MMP1
19arthritis30.2CCL5, CTGF, IL13, IL4, MMP13, MMP1
20ulcerative colitis30.1DEFB1, DEFB103B, DEFB4A, IL13, IL2RA, IL4
21oral candidiasis30.0DEFB4A
22measles30.0CD40LG
23osteoarthritis30.0CCL5, CTGF, BMP6, DEFB103B, DEFB4A, DCN
24lichen planus30.0DEFB4A
25vasculitis30.0CD40LG, TNFSF13B
26bronchiolitis30.0CCL5, IL13
27bronchiolitis obliterans30.0BMP6
28nephritis30.0TNFSF13B, CTGF, CD40LG
29graft versus host disease30.0CCL5, IL13, IL2RA, IL4
30allergic conjunctivitis30.0IL4, IL13
31pulmonary disease, chronic obstructive30.0CCL5, CTGF, DEFB1, IL13, MMP1
32hypertrophic scars29.9CTGF, BMP6, DCN, MMP1, SMAD7
33tetanus29.9CD40LG, IL13, IL2RA, IL4
34squamous cell carcinoma29.9BMP6, ITGAV, DEFB1, DEFB4A, DCN, MMP13
35sinusitis29.9DEFB4A
36mycosis fungoides29.9IL2RA
37lupus nephritis29.9CCL5, CD40LG, IL2RA
38atopic dermatitis29.9CCL5, DEFB103B, DEFB4A, IL13, IL2RA, IL4
39graves' disease29.8CCL5, IL13, IL2RA, IL4
40allergic asthma29.8CCL5, IL13, IL2RA, IL4
41uveitis29.8IL4, IL2RA
42stomach cancer29.8BMP6, DEFB4A, MMP13, SMAD7
43atopy29.8CCL5, IL13, IL4
44cryoglobulinemia29.7CD40LG
45polymyalgia rheumatica29.7CCL5
46acute myocardial infarction29.7CCL5
47rubella29.7CD40LG
48diabetic nephropathy29.7CCL5, CTGF, BMP6, DCN, SMAD7
49idiopathic pulmonary fibrosis29.7CCL5, CTGF, BMP6, IL13, MMP1
50folliculitis29.6DEFB4A

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



Diseases related to localized scleroderma

Clinical Features for Localized Scleroderma

Sources:
49Orphanet
See all sources


Symptoms:

49 (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

Drugs & Therapeutics for Localized Scleroderma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Localized Scleroderma

Drug clinical trials:

Search ClinicalTrials for Localized Scleroderma

Search NIH Clinical Center for Localized Scleroderma

Search CenterWatch for Localized Scleroderma

Genetic Tests for Localized Scleroderma

Anatomical Context for Localized Scleroderma

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Localized Scleroderma:

33
Bone marrow, Brain, Heart, Thyroid, Breast, Skin, B cells, Endothelial

Animal Models for Localized Scleroderma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Localized Scleroderma

Sources:
51PubMed
See all sources

Articles related to Localized Scleroderma:

(show top 50)    (show all 341)
idTitleAuthorsYear
1
Perineural inflammation in morphea (localized scleroderma): systematic characterization of a poorly recognized but potentially useful histopathological feature. (24117981)
2014
2
Bath psoralen-UVA photochemotherapy for localized scleroderma: experience from a single institute. (24001380)
2013
3
Localized periodontal ligament space widening as the only presentation of scleroderma--reliability recheck. (22707333)
2012
4
Subcutaneous administration of polymerized type I collagen downregulates interleukin (IL)-17A, IL-22 and transforming growth factor-I^1 expression, and increases Foxp3-expressing cells in localized scleroderma. (22731679)
2012
5
Morphea and other localized forms of scleroderma. (23018858)
2012
6
Case of juvenile localized scleroderma with joint sclerosis and SjAPgren's syndrome in a child with precocious puberty. (21658114)
2011
7
Methotrexate treatment in juvenile localized scleroderma: a randomized, double-blind, placebo-controlled trial. (21305525)
2011
8
Methotrexate in juvenile localized scleroderma: adding to the evidence. (21305527)
2011
9
Localized scleroderma en coup de sabre exacerbated during pregnancy followed by postpartum development of rheumatoid arthritis. (21524983)
2011
10
Case of localized scleroderma associated with osteomyelitis. (20175843)
2010
11
Localized scleroderma and zinc: a pilot study. (20123645)
2010
12
Sonographic evaluation of pediatric localized scleroderma: preliminary disease assessment measures. (20423513)
2010
13
Case of localized scleroderma successfully treated with bath psoralen and ultraviolet A therapy. (20175842)
2010
14
Imatinib treatment of generalized localized scleroderma (morphea). (20950732)
2010
15
Localized scleroderma: a series of 52 patients. (19393504)
2009
16
Morphoea (localized scleroderma): baseline body surface involvement and antinuclear antibody may have a prognostic value. (19747327)
2009
17
The localized scleroderma skin severity index and physician global assessment of disease activity: a work in progress toward development of localized scleroderma outcome measures. (19833758)
2009
18
Evaluation of heart rhythm variability and arrhythmia in children with systemic and localized scleroderma. (19040309)
2009
19
New developments in localized scleroderma. (18698185)
2008
20
Topical tacrolimus 0.1% ointment in the treatment of localized scleroderma. An open label clinical and histological study. (19120765)
2008
21
Localized scleroderma severity index and global assessments: a pilot study of outcome instruments. (18322985)
2008
22
Elevated serum BAFF levels in patients with localized scleroderma in contrast to other organ-specific autoimmune diseases. (17222220)
2007
23
Increased serum levels of TGFbeta1 in children with localized scleroderma. (18053185)
2007
24
A new computerized method for the assessment of skin lesions in localized scleroderma. (17264088)
2007
25
Treatment of pediatric localized scleroderma with methotrexate. (16511930)
2006
26
Follow-up efficacy of integrative Chinese and Western drugs on localized scleroderma with vitamine B6 and Xuefu Zhuyu decoction. (15975305)
2005
27
Novel autoantibody to Cu/Zn superoxide dismutase in patients with localized scleroderma. (15086540)
2004
28
Systemic manifestations in localized scleroderma. (15527700)
2004
29
Localized scleroderma or morphea? (11917622)
2001
30
Serum levels of soluble interleukin 6 receptor and soluble gp130 are elevated in patients with localized scleroderma. (10955333)
2000
31
Treatment options for localized scleroderma. (10751843)
2000
32
A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. (10651089)
1999
33
Autoantibodies to mitochondrial 2-oxo-acid dehydrogenase complexes in localized scleroderma. (8706337)
1996
34
A case of atypical localized scleroderma presenting with pseudoainhum: treatment with tranilast, an anti-fibrotic agent. (8740281)
1996
35
Classification of morphea (localized scleroderma) (7475336)
1995
36
Localized scleroderma after exposure to organic solvents. (7873829)
1994
37
Localized scleroderma. (8076261)
1994
38
Localized scleroderma after infection with Epstein-Barr virus. (8299265)
1993
39
Localized scleroderma is not a Borrelia burgdorferi infection in France. (1498396)
1992
40
Capillary abnormalities, Raynaud's phenomenon, and systemic sclerosis in patients with localized scleroderma. (1575525)
1992
41
Progressive inflammatory lesions of the brain parenchyma in localized scleroderma of the head. (2277274)
1990
42
Anti-single-stranded DNA antibody and muscle involvement in localized scleroderma. (2221947)
1990
43
Increased number of mast cells accompany enhanced collagen synthesis in linear localized scleroderma. (2774661)
1989
44
Borrelia burgdorferi and localized scleroderma. (2913967)
1989
45
Identification of fibroblasts responsible for increased collagen production in localized scleroderma by in situ hybridization. (3361141)
1988
46
Localized scleroderma (morphea) and antibody to Borrelia burgdorferi. (3308981)
1987
47
Localized scleroderma in childhood: review of the literature and case report. (3333829)
1987
48
Localized scleroderma 'en coup de sabre' and iridopalpebral atrophy at the same line. (6191498)
1983
49
Localized scleroderma with cutaneous calcinosis. A distinctive variant. (453900)
1979
50
Poikiloderma congenitale of Thomson-Rothmund vs localized linear scleroderma. (6054237)
1967

Genetic Variations for Localized Scleroderma

Expression for genes affiliated with Localized Scleroderma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 53R&D Systems, 54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 60Tocris Bioscience, 4Cell Signaling Technology
See all sources

Pathways related to Localized Scleroderma according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3TNFSF13B
210.0IL4, IL13
3
Hide members
9.9DEFB4A, DEFB103B, DEFB1
4
Hide members
9.9IL2RA, IL13, TNFSF13B
59.9ITGB5, ITGAV
69.8IL13, IL4, MMP1
7
Hide members
9.8IL4, IL2RA, CD40LG
89.8IL4, IL2RA, CD40LG
9
Cell adhesion ECM remodeling
Hide members
9.8MMP1, MMP13, ITGB5
10
Hide members
9.8ITGAV, IL13, IL2RA
119.8SMAD7, DCN, BMP6
129.7CCL5, TNFSF13B, IL2RA, IL4
13
Hide members
9.4TNFSF13B, CD40LG, IL13, IL2RA, IL4
149.3ARHGEF1, ITGAV, ITGB5, DCN
15
Hide members
9.3ITGAV, ITGB5, DCN, MMP13, MMP1
16
Hide members
9.0CCL5, ARHGEF1, ITGAV, ITGB5, MMP13, MMP1
17
Hide members
8.9CTGF, BMP6, ARHGEF1, ITGAV, ITGB5
18
Hide members
8.9CTGF, BMP6, ARHGEF1, ITGAV, ITGB5
19
Hide members
8.9CCL5, TNFSF13B, CTGF, BMP6, IL13, IL2RA
20
Hide members
8.9ITGAV, ITGB5, DEFB1, DEFB103B, DEFB4A, CD40LG
21
Hide members
8.7CTGF, BMP6, ARHGEF1, ITGAV, ITGB5, IL2RA
22
Hide members
8.4CTGF, BMP6, ARHGEF1, ITGAV, ITGB5, IL2RA
23
Hide members
8.2CCL5, TNFSF13B, CTGF, BMP6, ITGAV, ITGB5
24
Hide members
7.9IL4, CCL5, TNFSF13B, CTGF, BMP6, ARHGEF1

Compounds for genes affiliated with Localized Scleroderma

Sources:
45Novoseek, 29IUPHAR, 2BitterDB, 60Tocris Bioscience, 11DrugBank, 50PharmGKB, 24HMDB
See all sources

Compounds related to Localized Scleroderma according to GeneCards/GeneDecks:

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7DEFB4A
2gm-csf45 2911.6CCL5
3endotoxin4510.6DEFB4A
4hydrocortisone45 2 60 1113.6MMP1
5hbd24510.1DEFB4A, DEFB103B, DEFB1
6uva 14510.0MMP1, IL2RA, BMP6
7mycophenolic acid45 50 1112.0CCL5, CD40LG, IL13, IL2RA
8creatinine4510.0TNFSF13B, BMP6, DCN, MMP1
9doxycycline45 1110.9CD40LG, IL13, MMP13, MMP1
10mip 1alpha459.9IL13, CCL5, IL4
11rituximab45 50 1111.8TNFSF13B, CD40LG, IL2RA, IL13
12glatiramer acetate45 1110.8CCL5, IL13, IL4
13salmeterol45 50 29 1112.8CCL5, IL13, IL4
14nacl459.8CTGF, MMP13, DEFB4A, DCN, CCL5, DEFB1
15hydroxyapatite459.8ITGAV, DCN, CTGF, MMP13
16alpha tocopherol459.8IL4, IL2RA, IL13, CTGF, MMP1
17okt3459.8IL4, BMP6, CD40LG, IL2RA
18sp 60012545 6010.8MMP1, MMP13, IL13, CTGF, DEFB4A, CCL5
19rantes459.7IL4, IL2RA, CD40LG, DEFB4A, BMP6
20cyclosporin a45 29 6011.7CCL5, CTGF, DCN, CD40LG, IL2RA, MMP1
21glyceraldehyde 3-phosphate459.7CTGF, MMP13, MMP1, DCN, DEFB4A
22praziquantel45 1110.7IL4, IL13, CD40LG
23pentoxifylline45 1110.7IL2RA, BMP6, IL4, IL13, MMP1
24prednisolone45 29 1111.6IL13, MMP1, MMP13, IL2RA, BMP6
25il 10459.6IL13, BMP6, CCL5, IL2RA, IL4
26ionomycin459.6IL4, IL2RA, IL13, CD40LG, CCL5
27hydroxyproline45 11 2411.6MMP13, SMAD7, MMP1, CTGF, BMP6, DCN
28matrigel459.5CCL5, BMP6, DCN, MMP13, MMP1, SMAD7
29genistein45 29 60 2 11 2414.5CCL5, DCN, CD40LG, MMP13, MMP1, IL2RA
30hyaluronic acid45 2410.5CD40LG, DCN, BMP6, MMP1, IL13, MMP13
31paraffin459.5DEFB4A, DCN, CD40LG, MMP13, MMP1, IL2RA
32herbimycin a45 6010.5BMP6, IL2RA, CD40LG, IL4, MMP13, MMP1
33ribonucleic acid459.5DCN, MMP1, MMP13, BMP6, CCL5, CTGF
34tacrolimus45 50 1111.5BMP6, CCL5, IL13, IL2RA, IL4
35n acetylcysteine459.4CD40LG, IL2RA, IL4, MMP1, SMAD7, CTGF
36calcitriol45 60 11 2412.4IL13, IL4, BMP6, MMP1, IL2RA, CCL5
37tgf beta1459.4MMP13, CTGF, BMP6, DCN, IL13, MMP1
38bleomycin45 1110.3CTGF, SMAD7, IL4, IL2RA, BMP6, DCN
39aspirin45 50 29 2412.2CCL5, MMP1, IL4, IL2RA, IL13, CD40LG
40histamine45 29 2411.2BMP6, DEFB4A, IL13, IL4, IL2RA, CD40LG
41thymidine45 2410.2TNFSF13B, MMP13, CTGF, BMP6, IL2RA, IL4
42pd 98,059459.1MMP13, IL13, DCN, MMP1, DEFB4A, BMP6
43sb 20358045 6010.0SMAD7, MMP1, MMP13, IL4, IL13, DEFB4A
44heparin45 29 11 2412.0IL2RA, IL13, CD40LG, MMP13, DCN, DEFB4A
45retinoic acid45 249.8MMP13, IL13, CD40LG, DCN, DEFB4A, BMP6
46lactate458.8CCL5, CD40LG, IL13, BMP6, CTGF, MMP1
47cysteine458.7CCL5, CTGF, DEFB4A, CD40LG, IL13, IL2RA
48dexamethasone45 50 29 1111.6CD40LG, SMAD7, CCL5, IL13, CTGF, DCN
49vegf458.2CCL5, CTGF, BMP6, ITGAV, CD40LG, IL13
50tyrosine457.6DCN, MMP13, IL4, NM, SMAD7, ARHGEF1

GO Terms for genes affiliated with Localized Scleroderma

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00579610.0DCN, DEFB4A, DEFB1
2external side of plasma membraneGO:0098979.2ITGAV, CD40LG, IL13, IL2RA, IL4
3extracellular regionGO:0055768.7CCL5, CTGF, DEFB1, DEFB4A, DCN, IL13
4extracellular spaceGO:0056158.5MMP13, CCL5, TNFSF13B, CTGF, BMP6, DCN

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1B cell costimulationGO:03129610.2IL4, TNFSF13B
2immunoglobulin secretionGO:04830510.2CD40LG, TNFSF13B
3positive regulation of B cell proliferationGO:03089010.0TNFSF13B, IL13, IL4
4regulation of proton transportGO:01015510.0IL13, IL4
5positive regulation of T cell proliferationGO:0421029.9IL4, TNFSF13B, CCL5
6chemotaxisGO:0069359.9IL4, DEFB4A, DEFB1, CCL5
7positive regulation of T cell differentiationGO:0455829.7IL2RA, IL4
8integrin-mediated signaling pathwayGO:0072299.6ITGB5, ITGAV, CTGF
9extracellular matrix organizationGO:0301989.5ITGAV, ITGB5, DCN, MMP13, MMP1
10inflammatory responseGO:0069549.4IL13, CD40LG, BMP6, CCL5
11immune responseGO:0069559.2IL4, IL2RA, IL13, DEFB4A, DEFB1, BMP6

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.2IL4, IL13, CD40LG, BMP6, TNFSF13B

Products for genes affiliated with Localized Scleroderma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Localized Scleroderma

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