MCID: SCL025
MIFTS: 44

Scleromyxedema malady

Rare diseases, Skin diseases categories
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Summaries for Scleromyxedema

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Scleromyxedema is a rare, severe skin disorder. signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). it often involves internal organs and may affect various body systems. the cause of scleromyxedema is not known. management may involve the use of intravenous immunoglobulin (ivig) and/or plasmapheresis, but no standard treatment exists. last updated: 4/18/2014

MalaCards: Scleromyxedema, also known as generalized lichenoid papular eruption, is related to myopathy 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 ErbB4 Pathway. The compounds s 100 and reticulin have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and lymph node, and related mouse phenotypes are mortality/aging and homeostasis/metabolism.

Wikipedia:65 Papular mucinosis (also known as \"Scleromyxedema,\" \"Generalized lichen myxedematosus,\" and... more...

Aliases & Classifications for Scleromyxedema

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43NIH Rare Diseases, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Aliases & Descriptions:

scleromyxedema 43 49 62
generalized lichenoid papular eruption 43 49
arndt-gottron disease 43 49
generalized papular and sclerodermoid lichen myxedematosus 49
generalized papular and sclerodermoid 43


External Ids:

MESH via Orphanet36 D053718
ICD10 via Orphanet26 L98.5
SNOMED-CT via Orphanet59 111197009, 402468007
UMLS via Orphanet63 C0263390

Related Diseases for Scleromyxedema

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17GeneCards, 18GeneDecks
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Diseases related to Scleromyxedema via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.3
2papular mucinosis10.3
3scleroderma10.3
4myeloma10.2
5dermatomyositis10.1
6multiple myeloma10.1
7myositis10.1
8scleromyxedema without monoclonal gammopathy10.1
9pericardial effusion10.1PIK3C2A
10idiopathic pulmonary fibrosis10.0FGF2, ACTC1
11fibrosarcoma10.0ACTC1, FGF2
12dilated cardiomyopathy10.0ACTC1, PIK3C2A
13cutaneous fibrous histiocytoma10.0F13A1, ACTC1
14dermatofibrosarcoma protuberans10.0F13A1, ACTC1
15fibrous histiocytoma10.0F13A1, ACTC1
16hemangiopericytoma10.0ACTC1, F13A1
17fibroma10.0ACTC1, F13A1
18giant cell tumor10.0ACTC1, F13A1
19neurofibroma10.0F13A1, ACTC1
20malignant fibroxanthoma10.0F13A1, ACTC1
21keloids10.0FGF2, F13A1
22kidney cancer10.0FGF2, ACTC1
23kaposi's sarcoma10.0FGF2, F13A1
24neurilemmoma10.0F13A1, ACTC1
25basal cell carcinoma10.0ACTC1, F13A1
26congenital heart disease10.0ACTC1, PIK3C2A
27dermatitis10.0PIK3C2A, F13A1
28vascular disease10.0FGF2, F13A1
29sarcoma10.0ACTC1, F13A1
30crohn's disease10.0
31monoclonal paraproteinemia10.0
32cerebritis10.0
33granuloma annulare10.0
34arthritis10.0
35arthropathy10.0
36corneal deposit10.0
37eosinophilia10.0
38esophagitis10.0
39hyperthyroidism10.0
40laryngitis10.0
41leukemia10.0
42multiple sclerosis10.0
43non-hodgkin lymphoma10.0
44seminoma10.0
45thymic carcinoma10.0
46scleredema10.0
47paraneoplastic syndromes10.0
48rheumatic disease10.0
49hemangioma10.0F13A1, ACTC1, FGF2
50myocardial infarction9.9PIK3C2A, F13A1

Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to scleromyxedema

Symptoms for Scleromyxedema

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Drugs & Therapeutics for Scleromyxedema

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Scleromyxedema

Search NIH Clinical Center for Scleromyxedema

Genetic Tests for Scleromyxedema

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Anatomical Context for Scleromyxedema

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33MalaCards
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MalaCards organs/tissues related to Scleromyxedema:

33
Skin, Thyroid, Lymph node

Animal Models for Scleromyxedema or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Scleromyxedema:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0FGF2, ACTC1, F13A1, PIK3C2A
2MP:00053767.7FGF2, ACTC1, F13A1, PIK3C2A

Publications for Scleromyxedema

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52PubMed
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Articles related to Scleromyxedema:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy. (23681113)
2013
2
Combination of intravenous immunoglobulins and lenalidomide in the treatment of scleromyxedema. (23866873)
2013
3
Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin. (24348379)
2013
4
Scleromyxedema with monoclonal gammopathy and neurological involvement: recovery from coma after plasmapheresis? (21671910)
2012
5
Scleromyxedema: a cutaneous paraneoplastic syndrome associated with thymic carcinoma. (22162593)
2012
6
Scleromyxedema vs scleredema: a diagnostic challenge. (21771713)
2011
7
Cardiomyopathy in scleromyxedema: report of a fatal case. (20977988)
2010
8
Scleromyxedema with an interstitial granulomatous-like pattern: a rare histologic variant mimicking granuloma annulare. (19638067)
2010
9
Treatment of scleromyxedema and the dermatoneuro syndrome with intravenous immunoglobulin. (19249127)
2009
10
Scleromyxedema with myopathy was successfully treated by thalidomide. (18435730)
2009
11
Suspected cardiac toxicity to intravenous immunoglobulin used for treatment of scleromyxedema. (18583794)
2008
12
Unusual granulomatous variant of scleromyxedema. (18485525)
2008
13
Scleroderma-like acute renal crisis in a patient with scleromyxedema. (17389621)
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
Tumorous variant of scleromyxedema. Successful therapy with intravenous immunoglobulins. (15987294)
2005
17
Successful treatment of scleromyxedema with dexamethasone cyclophosphamide pulse therapy. (16394362)
2005
18
High-dose dexamethasone in scleromyxedema: report of 2 additional cases. (16198811)
2005
19
Successful treatment of scleromyxedema with autologous peripheral blood stem cell transplantation. (16230566)
2005
20
Thalidomide as a potential treatment for scleromyxedema. (15023770)
2004
21
Scleromyxedema in a patient with multiple sclerosis and monoclonal gammopathy on interferon beta-1a. (14760958)
2004
22
A complete and durable clinical response to high-dose dexamethasone in a patient with scleromyxedema. (15280830)
2004
23
Successful treatment of intractable scleromyxedema with cyclosporin A. (14657639)
2003
24
Heparan sulphate proteoglycan in scleromyxedema promotes FGF-2 activity. (12498227)
2002
25
Scleromyxedema-like fibromucinosis in a patient undergoing hemodialysis. (12100695)
2002
26
The neurologic complications of scleromyxedema. (11552085)
2001
27
Scleromyxedema: possible association with seminoma. (10767692)
2000
28
Scleromyxedema. (10426928)
1999
29
Scleromyxedema: a complete response to prednisone. (10319080)
1999
30
Fever, convulsions and coma in scleromyxedema: a "dermato-neuro syndrome". (8649597)
1996
31
Scleromyxedema with myopathy and hyperthyroidism. (8823713)
1996
32
Scleromyxedema. (7601944)
1995
33
Extracorporeal photochemotherapy: a potentially useful treatment for scleromyxedema. (1791229)
1991
34
Scleromyxedema: case for therapeutic suggestion. (2340934)
1990
35
Stimulation of fibroblasts by paraprotein in scleromyxedema. (2808811)
1989
36
Scleromyxedema associated with non-Hodgkin lymphoma. (2592130)
1989
37
Scleromyxedema: therapeutic response to isotretinoin in three patients. (3170809)
1988
38
Plasmapheresis in a patient with scleromyxedema. (3107482)
1987
39
Scleromyxedema with systemic involvement mimics rheumatic diseases. (2943292)
1986
40
Scleromyxedema and inflammatory myopathy: a clinicopathologic study of three patients. (3465308)
1986
41
Treatment of scleromyxedema with etretinate. (6715602)
1984
42
Major surgery and scleromyxedema. (6230537)
1984
43
Scleromyxedema associated with IgG lambda multiple myeloma. (6416712)
1983
44
Scleromyxedema - a sclerodermoid disorder. (7288775)
1981
45
Pathology quiz case 3. Lichen myxedematosus (scleromyxedema). (7259228)
1981
46
Scleromyxedema --report of a case with hyperpolygammopathy and immunoglobulin and complement deposition in cutaneous lesions--. (6997351)
1980
47
Treatment of scleromyxedema with melphalan. (434843)
1979
48
Scleromyxedema myopathy. Histochemical and electron microscopic observations. (645644)
1978
49
Scleromyxedema. (813582)
1976
50
Scleromyxedema. (5761799)
1969

Variations for Scleromyxedema

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Expression for genes affiliated with Scleromyxedema

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 51PharmGKB, 57SinoBiological
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Compounds for genes affiliated with Scleromyxedema

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Scleromyxedema according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1s 100459.7ACTC1, F13A1
2reticulin459.7F13A1, ACTC1
3b 723459.7ACTC1, F13A1
4hematoxylin459.6F13A1, ACTC1
5procollagen459.6ACTC1, F13A1
6urea45 24 1111.6F13A1, PIK3C2A
7diazepam45 29 51 1112.5PIK3C2A, FGF2
8warfarin45 51 24 1112.4FGF2, PIK3C2A
9glycogen45 2410.4ACTC1, PIK3C2A
10glycosaminoglycan459.4FGF2, ACTC1
11heparinoids459.4FGF2, F13A1
12prednisolone45 29 1111.4PIK3C2A, FGF2
13citrate459.4FGF2, PIK3C2A
14thyroxine45 2410.3FGF2, PIK3C2A
15isoproterenol45 1110.3PIK3C2A, FGF2
16prostacyclin459.3FGF2, PIK3C2A
17matrigel459.2FGF2, ACTC1
18fibrinogen459.2F13A1, PIK3C2A
19ascorbic acid45 2410.2FGF2, PIK3C2A
20iron45 2410.2PIK3C2A, F13A1, ACTC1
21progesterone45 29 61 24 1113.1ACTC1, F13A1, PIK3C2A
22cyclosporin a45 29 6111.0FGF2, ACTC1, PIK3C2A
23paraffin458.9FGF2, ACTC1, F13A1
24heparin45 29 24 1111.8FGF2, F13A1, PIK3C2A
25ly294002458.8FGF2, PIK3C2A
26estrogen458.8FGF2, ACTC1, F13A1
27tyrosine458.6PIK3C2A, ACTC1, FGF2
28vegf458.4FGF2, ACTC1, F13A1, PIK3C2A

GO Terms for genes affiliated with Scleromyxedema

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16Gene Ontology
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Cellular components related to Scleromyxedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.3ACTC1, F13A1

Biological processes related to Scleromyxedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol biosynthetic processGO:0066619.1FGF2, PIK3C2A
2epidermal growth factor receptor signaling pathwayGO:0071739.1FGF2, PIK3C2A
3phosphatidylinositol-mediated signalingGO:0480159.0FGF2, PIK3C2A
4insulin receptor signaling pathwayGO:0082868.8FGF2, PIK3C2A

Products for genes affiliated with Scleromyxedema

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Sources for Scleromyxedema

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet