MCID: SCL025
MIFTS: 33

Scleromyxedema malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Scleromyxedema

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Sources:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Scleromyxedema:

Name: Scleromyxedema 46 52 66
Generalized Lichenoid Papular Eruption 46 52
Arndt-Gottron Disease 46 52
 
Generalized Papular and Sclerodermoid Lichen Myxedematosus 52
Generalized Papular and Sclerodermoid 46

Characteristics:

Orphanet epidemiological data:

52
scleromyxedema:
Age of onset: Adult

Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

Orphanet52 ORPHA167635
ICD10 via Orphanet29 L98.5
MESH via Orphanet38 D053718
UMLS via Orphanet67 C0263390

Summaries for Scleromyxedema

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NIH Rare Diseases:46 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 based summary: Scleromyxedema, also known as generalized lichenoid papular eruption, is related to scleromyxedema without monoclonal gammopathy 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. Affiliated tissues include skin, thyroid and lymph node, and related mouse phenotype cardiovascular system.

Wikipedia:69 Papular mucinosis (also known as \"Scleromyxedema,\" \"Generalized lichen myxedematosus,\" and... more...

Related Diseases for Scleromyxedema

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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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Scleromyxedema

Genetic Tests for Scleromyxedema

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Anatomical Context for Scleromyxedema

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MalaCards organs/tissues related to Scleromyxedema:

34
Skin, Thyroid, Lymph node

Animal Models for Scleromyxedema or affiliated genes

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MGI Mouse Phenotypes related to Scleromyxedema:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0ACTC1, F13A1, FGF2, PIK3C2A

Publications for Scleromyxedema

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Articles related to Scleromyxedema:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Successful treatment of scleromyxedema with melphalan and dexamethasone followed by thalidomide maintenance therapy. (27118492)
2016
2
Neurological Involvement in the Course of Scleromyxedema: A Case Report. (27282303)
2016
3
Scleromyxedema Clinically Resembling to Scleroderma. (26951784)
2016
4
Scleromyxedema, a therapeutic dilemma. (25814746)
2015
5
Scleromyxedema. (25366027)
2014
6
Scleromyxedema with histology resembling granuloma annulare. (25780962)
2014
7
Scleromyxedema. (25215418)
2014
8
Dermato-Neuro Syndrome in a Patient Treated With Autologous Stem Cell Transplant for Scleromyxedema. (25065780)
2014
9
A case of atypical scleromyxedema without gammopathy treated with cyclosporine. (24823421)
2014
10
Atypical scleromyxedema with prominent nodular lesions associated with immune thrombocytopenia: an unusual presentation. (25219747)
2014
11
Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy. (23681113)
2013
12
Combination of intravenous immunoglobulins and lenalidomide in the treatment of scleromyxedema. (23866873)
2013
13
Granulomatous Scleromyxedema: Case Report and Literature Review. (24247576)
2013
14
Scleromyxedema with monoclonal gammopathy and neurological involvement: recovery from coma after plasmapheresis? (21671910)
2012
15
The combination of bortezomib and dexamethasone is an efficient therapy for relapsed/refractory scleromyxedema: a rare disease with new clinical insights. (22404151)
2012
16
Intravenous gammaglobulin and thalidomide may be an effective therapeutic combination in refractory scleromyxedema: case report and discussion of the literature. (18221985)
2008
17
Scleromyxedema diagnosis following unexplained encephalopathy. (18086595)
2008
18
Scleroderma-like acute renal crisis in a patient with scleromyxedema. (17389621)
2007
19
Scleromyxedema: successful treatment with thalidomide in two patients. (17191049)
2007
20
Can scleromyxedema be differentiated from nephrogenic fibrosing dermatopathy by the distribution of the infiltrate? (17083697)
2006
21
Successful treatment of scleromyxedema with dexamethasone cyclophosphamide pulse therapy. (16394362)
2005
22
High-dose dexamethasone in scleromyxedema: report of 2 additional cases. (16198811)
2005
23
Successful treatment of scleromyxedema with autologous peripheral blood stem cell transplantation. (16230566)
2005
24
Histopathologic comparison of nephrogenic fibrosing dermopathy and scleromyxedema. (16008692)
2005
25
A complete and durable clinical response to high-dose dexamethasone in a patient with scleromyxedema. (15280830)
2004
26
Scleromyxedema with subclinical myositis. (17642556)
2004
27
Successful treatment of intractable scleromyxedema with cyclosporin A. (14657639)
2003
28
Heparan sulphate proteoglycan in scleromyxedema promotes FGF-2 activity. (12498227)
2002
29
Scleromyxedema-like fibromucinosis in a patient undergoing hemodialysis. (12100695)
2002
30
The neurologic complications of scleromyxedema. (11552085)
2001
31
Acute rhabdomyolysis during the treatment of scleromyxedema with interferon alfa. (12243709)
2001
32
Updated classification of papular mucinosis, lichen myxedematosus, and scleromyxedema. (11174386)
2001
33
Scleromyxedema. (7601944)
1995
34
Ophthalmic findings in scleromyxedema. (8115146)
1994
35
Scleromyxedema associated with arthritis and myopathy: a case report. (8275591)
1993
36
Extracorporeal photochemotherapy: a potentially useful treatment for scleromyxedema. (1791229)
1991
37
Cutaneous focal mucinosis associated with reticular erythematous mucinosis and scleromyxedema. (2033150)
1991
38
Myeloma associated scleromyxedema with extensive involvement of small bowel. (1838147)
1991
39
Scleromyxedema: case for therapeutic suggestion. (2340934)
1990
40
Successful treatment of scleromyxedema with plasmapheresis and immunosuppression. (2347969)
1990
41
Stimulation of fibroblasts by paraprotein in scleromyxedema. (2808811)
1989
42
Scleromyxedema serum increases proliferation but not the glycosaminoglycan synthesis of dermal fibroblasts. (2778769)
1989
43
Iatrogenic myelomonocytic leukemia following melphalan treatment of scleromyxedema. (3470169)
1987
44
Scleromyxedema with systemic involvement mimics rheumatic diseases. (2943292)
1986
45
Treatment of scleromyxedema with etretinate. (6715602)
1984
46
Pathology quiz case 3. Lichen myxedematosus (scleromyxedema). (7259228)
1981
47
Treatment of scleromyxedema with melphalan. (434843)
1979
48
Scleromyxedema myopathy. Histochemical and electron microscopic observations. (645644)
1978
49
Scleromyxedema. (5761799)
1969
50
Scleromyxedema. A variant of Lichen myxedematosus. (4221381)
1966

Variations for Scleromyxedema

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Expression for genes affiliated with Scleromyxedema

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Search GEO for disease gene expression data for Scleromyxedema.

Pathways for genes affiliated with Scleromyxedema

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Pathways related to Scleromyxedema according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1ACTC1, FGF2
2
Show member pathways
9.1FGF2, PIK3C2A
39.1FGF2, PIK3C2A

GO Terms for genes affiliated with Scleromyxedema

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Cellular components related to Scleromyxedema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.3ACTC1, F13A1

Biological processes related to Scleromyxedema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.6FGF2, PIK3C2A
2phosphatidylinositol phosphorylationGO:00468549.5FGF2, PIK3C2A
3phosphatidylinositol biosynthetic processGO:00066619.5FGF2, PIK3C2A
4phosphatidylinositol-mediated signalingGO:00480159.4FGF2, PIK3C2A
5positive regulation of gene expressionGO:00106289.1ACTC1, FGF2

Molecular functions related to Scleromyxedema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:00163039.1FGF2, PIK3C2A

Sources for Scleromyxedema

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet