MCID: SCL025
MIFTS: 37

Scleromyxedema malady

Skin category

Summaries for Scleromyxedema

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Scleromyxedema is a rare skin disorder characterized by the rapid growth of fibroblasts (a type of connective tissue cell) and mucin deposition in the skin (dermis), in the absence of thyroid disease. mucins, are proteins that make the skin more viscous. they may also be called mucoproteins or proteoglycans. the cause of scleromyxedema is currently unknown. last updated: 1/6/2009

MalaCards: Scleromyxedema, also known as generalized papular and sclerodermoid lichen myxedematosus, is related to myxedema and papular mucinosis. An important gene associated with Scleromyxedema is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Cardiac Progenitor Differentiation and VEGF Signaling Pathway. The compounds s 100 and reticulin have been mentioned in the context of this disorder. Affiliated tissues include lymph node, thyroid and skin, and related mouse phenotype homeostasis/metabolism.

Wikipedia:64 Papular mucinosis (also known as \"Scleromyxedema,\" \"Generalized lichen myxedematosus,\" and... more...

Aliases & Classifications for Scleromyxedema

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

scleromyxedema 43 49 61
generalized papular and sclerodermoid lichen myxedematosus 49
generalized lichenoid papular eruption 49
arndt-gottron disease 49


External Ids:

MESH via Orphanet36 D053718
ICD10 via Orphanet26 L98.5
SNOMED-CT via Orphanet58 111197009, 402468007
UMLS via Orphanet62 C0263390

Related Diseases for Scleromyxedema

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Scleromyxedema family:

scleromyxedema without monoclonal gammopathy

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1myxedema10.4
2papular mucinosis10.3
3n syndrome10.3
4scleromyxedema without monoclonal gammopathy10.1
5fasciitis10.0ACTC1
6pericardial effusion10.0PIK3C2A
7acute myocardial infarction10.0PIK3C2A
8coronary heart disease10.0PIK3C2A
9fibromatosis10.0ACTC1
10myopathy10.0PIK3C2A
11disseminated intravascular coagulation10.0PIK3C2A
12leiomyosarcoma10.0ACTC1
13pulmonary embolism10.0F13A1
14pneumonia10.0PIK3C2A
15fibrosarcoma10.0ACTC1, FGF2
16idiopathic pulmonary fibrosis10.0ACTC1, FGF2
17tuberous sclerosis10.0F13A1
18hemangiopericytoma10.0ACTC1, F13A1
19cutaneous fibrous histiocytoma10.0ACTC1, F13A1
20fibrous histiocytoma10.0ACTC1, F13A1
21sarcoma10.0F13A1, ACTC1
22giant cell tumor10.0ACTC1, F13A1
23malignant fibroxanthoma10.0ACTC1, F13A1
24keloids10.0F13A1, FGF2
25dermatofibrosarcoma protuberans10.0ACTC1, F13A1
26ischemia10.0PIK3C2A, FGF2
27kaposi's sarcoma10.0F13A1, FGF2
28neurilemmoma10.0ACTC1, F13A1
29myocardial infarction10.0F13A1, PIK3C2A
30neurofibroma10.0ACTC1, F13A1
31adenocarcinoma10.0F13A1, ACTC1
32basal cell carcinoma10.0F13A1, ACTC1
33atherosclerosis10.0F13A1, FGF2
34hemangioma10.0F13A1, FGF2, ACTC1
35factor v leiden thrombophilia10.0PIK3C2A, F13A1, ACTC1
36melanoma10.0F13A1, FGF2, ACTC1
37vascular disease10.0FGF2, F13A1
38crohn's disease10.0
39atopic dermatitis10.0
40q fever10.0
41monoclonal paraproteinemia10.0
42pyoderma gangrenosum10.0
43adult dermatomyositis10.0
44granuloma annulare10.0
45arthritis10.0
46arthropathy10.0
47systemic scleroderma10.0
48thymic carcinoma10.0
49urticaria10.0
50scleredema10.0

Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to scleromyxedema

Clinical Features for Scleromyxedema

Drugs & Therapeutics for Scleromyxedema

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Scleromyxedema

Drug clinical trials:

Search ClinicalTrials for Scleromyxedema

Search NIH Clinical Center for Scleromyxedema

Search CenterWatch for Scleromyxedema

Genetic Tests for Scleromyxedema

Anatomical Context for Scleromyxedema

Sources:
33MalaCards
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MalaCards organs/tissues related to Scleromyxedema:

33
Lymph node, Thyroid, Skin

Animal Models for Scleromyxedema or affiliated genes

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

MGI Mouse Phenotypes related to Scleromyxedema:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0ACTC1, FGF2, F13A1, PIK3C2A

Publications for Scleromyxedema

Sources:
51PubMed
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Articles related to Scleromyxedema:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Scleromyxedema: a rare disorder and its treatment difficulties. (24278061)
2013
2
Successful treatment of scleromyxedema with oral thalidomide. (23231733)
2013
3
Scleromyxedema: a case report and review of the literature. (23874293)
2013
4
Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients. (23453242)
2013
5
Scleromyxedema with monoclonal gammopathy and neurological involvement: recovery from coma after plasmapheresis? (21671910)
2012
6
Scleromyxedema: a cutaneous paraneoplastic syndrome associated with thymic carcinoma. (22162593)
2012
7
Cardiomyopathy in scleromyxedema: report of a fatal case. (20977988)
2010
8
Scleromyxedema with myopathy was successfully treated by thalidomide. (18435730)
2009
9
Arndt Gottron scleromyxedema: successful response to treatment with steroid minipulse and methotrexate. (20101325)
2009
10
Scleromyxedema--thalidomide therapy. (18312333)
2008
11
Scleroderma-like acute renal crisis in a patient with scleromyxedema. (17389621)
2007
12
Scleromyxedema. (17939940)
2007
13
Scleromyxedema: treatment of widespread cutaneous involvement by total skin electron-beam therapy. (17651175)
2007
14
Steady remission of scleromyxedema 3 years after autologous stem cell transplantation: an in vivo and in vitro study. (16822907)
2006
15
Can scleromyxedema be differentiated from nephrogenic fibrosing dermatopathy by the distribution of the infiltrate? (17083697)
2006
16
Scleromyxedema: An experience using treatment with systemic corticosteroid and review of the published work. (16620228)
2006
17
Scleromyxedema: role of high-dose melphalan with autologous stem cell transplantation. (16179379)
2006
18
Use of IGIV in the treatment of atopic dermatitis, urticaria, scleromyxedema, pyoderma gangrenosum, psoriasis, and pretibial myxedema. (16504920)
2006
19
Successful treatment of scleromyxedema with dexamethasone cyclophosphamide pulse therapy. (16394362)
2005
20
Scleromyxedema-like lesions of patients in renal failure contain hyaluronan: a possible pathophysiological mechanism. (16176298)
2005
21
Thalidomide as a potential treatment for scleromyxedema. (15023770)
2004
22
Scleromyxedema with subclinical myositis. (17642556)
2004
23
Images in clinical medicine. Scleromyxedema. (15548782)
2004
24
Successful treatment of intractable scleromyxedema with cyclosporin A. (14657639)
2003
25
Scleromyxedema revisited. (12581140)
2003
26
The neurologic complications of scleromyxedema. (11552085)
2001
27
Acute rhabdomyolysis during the treatment of scleromyxedema with interferon alfa. (12243709)
2001
28
Scleromyxedema: possible association with seminoma. (10767692)
2000
29
Scleromyxedema: successful treatment of cutaneous and neurologic symptoms. (10696560)
2000
30
Scleromyxedema with dermato-neuro syndrome. (10767707)
2000
31
Scleromyxedema: treatment with interferon alfa. (10025854)
1999
32
Encephalopathy in scleromyxedema. (10496284)
1999
33
Fever, convulsions and coma in scleromyxedema: a "dermato-neuro syndrome". (8649597)
1996
34
Multiple periorbital cutaneous myxomas progressing to scleromyxedema. (8621831)
1996
35
Extracorporeal photochemotherapy: a potentially useful treatment for scleromyxedema. (1791229)
1991
36
Myeloma associated scleromyxedema with extensive involvement of small bowel. (1838147)
1991
37
Improvement of scleromyxedema associated with isotretinoin therapy. (2050852)
1991
38
Successful treatment of scleromyxedema with plasmapheresis and immunosuppression. (2347969)
1990
39
Scleromyxedema serum increases proliferation but not the glycosaminoglycan synthesis of dermal fibroblasts. (2778769)
1989
40
Scleromyxedema. (2592129)
1989
41
Scleromyxedema: therapeutic response to isotretinoin in three patients. (3170809)
1988
42
Scleromyxedema myopathy: case report and review of the literature. (3056423)
1988
43
Monoclonal paraproteinemia with subacute encephalopathy, seizures, and scleromyxedema. (3587628)
1987
44
Iatrogenic myelomonocytic leukemia following melphalan treatment of scleromyxedema. (3470169)
1987
45
Scleromyxedema with corneal deposits. (3684209)
1987
46
Scleromyxedema associated with scleroderma renal disease and acute psychosis. (3086390)
1986
47
Erosive arthropathy associated with scleromyxedema. (4071104)
1985
48
Scleromyxedema associated with IgG lambda multiple myeloma. (6416712)
1983
49
Scleromyxedema - a sclerodermoid disorder. (7288775)
1981
50
Scleromyxedema. (813582)
1976

Genetic Variations for Scleromyxedema

Expression for genes affiliated with Scleromyxedema

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Scleromyxedema

Search GEO for disease gene expression data for Scleromyxedema.

Pathways for genes affiliated with Scleromyxedema

Sources:
38NCBI BioSystems Database, 50PharmGKB
See all sources

Pathways related to Scleromyxedema according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ACTC1, FGF2
29.1FGF2, PIK3C2A
39.1FGF2, PIK3C2A

Compounds for genes affiliated with Scleromyxedema

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

Compounds related to Scleromyxedema according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1s 100459.7F13A1, ACTC1
2reticulin459.7ACTC1, F13A1
3b 723459.6F13A1, ACTC1
4hematoxylin459.6ACTC1, F13A1
5procollagen459.5F13A1, ACTC1
6urea45 11 2411.4PIK3C2A, F13A1
7diazepam45 50 29 1112.4FGF2, PIK3C2A
8warfarin45 50 11 2412.4PIK3C2A, FGF2
9heparinoids459.4FGF2, F13A1
10glycosaminoglycan459.3ACTC1, FGF2
11prednisolone45 29 1111.3FGF2, PIK3C2A
12citrate459.1FGF2, PIK3C2A
13prostacyclin459.1FGF2, PIK3C2A
14iron45 2410.1PIK3C2A, F13A1, ACTC1
15progesterone45 60 29 11 2413.0ACTC1, F13A1, PIK3C2A
16thyroxine45 2410.0PIK3C2A, FGF2
17cyclosporin a45 29 6010.9ACTC1, FGF2, PIK3C2A
18isoproterenol45 119.8FGF2, PIK3C2A
19paraffin458.8ACTC1, FGF2, F13A1
20heparin45 29 11 2411.8FGF2, F13A1, PIK3C2A
21estrogen458.6ACTC1, FGF2, F13A1
22vegf458.3ACTC1, FGF2, F13A1, PIK3C2A

GO Terms for genes affiliated with Scleromyxedema

Sources:
16Gene Ontology
See all sources

Biological processes related to Scleromyxedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin receptor signaling pathwayGO:0082869.1FGF2, PIK3C2A
2phosphatidylinositol biosynthetic processGO:0066619.0FGF2, PIK3C2A
3phosphatidylinositol-mediated signalingGO:0480158.8FGF2, PIK3C2A

Products for genes affiliated with Scleromyxedema

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scleromyxedema

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