MCID: SCL025
MIFTS: 32

Scleromyxedema malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Scleromyxedema

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Sources:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Scleromyxedema:

Name: Scleromyxedema 48 54 68
Generalized Papular and Sclerodermoid Lichen Myxedematosus 48 54
Generalized Lichenoid Papular Eruption 48 54
 
Arndt-Gottron Disease 48 54
Generalized Papular and Sclerodermoid 48

Characteristics:

Orphanet epidemiological data:

54
scleromyxedema:
Age of onset: Adult

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

Orphanet54 ORPHA167635
ICD10 via Orphanet31 L98.5
MESH via Orphanet40 D053718
UMLS via Orphanet69 C0263390

Summaries for Scleromyxedema

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NIH Rare Diseases:48 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. there is no standard treatment. management may involve the use of intravenous immunoglobulin (ivig), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation. last updated: 9/29/2016

MalaCards based summary: Scleromyxedema, also known as generalized papular and sclerodermoid lichen myxedematosus, 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 Integrins in angiogenesis. Affiliated tissues include skin, thyroid and bone, and related mouse phenotype cardiovascular system.

Wikipedia:71 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 & Phenotypes for Scleromyxedema

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MGI Mouse Phenotypes related to Scleromyxedema according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0ACTC1, F13A1, FGF2, PIK3C2A

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:

36
Skin, Thyroid, Bone, Bone marrow, Lymph node

Publications for Scleromyxedema

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Articles related to Scleromyxedema:

(show top 50)    (show all 173)
idTitleAuthorsYear
1
A rare association of scleromyxedema with cutis verticis gyrata. (27294055)
2016
2
Scleromyxedema without Paraproteinemia: Treatment with Thalidomide and Prednisolone. (27990110)
2016
3
Successful treatment of scleromyxedema with melphalan and dexamethasone followed by thalidomide maintenance therapy. (27118492)
2016
4
SCLEROMYXEDEMA WITH RETINAL VASCULITIS AND MACULAR EDEMA. (27348792)
2016
5
Scleromyxedema: long-term follow-up after high-dose melphalan with autologous stem cell transplantation. (27207484)
2016
6
Frequency of cutis laxa-like clinical features and elastolysis in scleromyxedema: a retrospective clinicopathologic study of 19 patients with scleromyxedema. (26676919)
2016
7
Scleromyxedema Clinically Resembling to Scleroderma. (26951784)
2016
8
Histopathologic characteristics of scleromyxedema: AA study of a series of 34 cases. (26897387)
2016
9
Atypical scleromyxedema presenting with cutaneous and cardiovascular manifestations. (27698568)
2016
10
Scleromyxedema. (26858056)
2016
11
Scleromyxedema without paraproteinemia. (26971585)
2016
12
Neurological Involvement in the Course of Scleromyxedema: A Case Report. (27282303)
2016
13
Scleromyxedema, a therapeutic dilemma. (25814746)
2015
14
Scleromyxedema (papular mucinosis) with dermato-neuro syndrome: A rare, potentially fatal complication. (26051450)
2015
15
Scleromyxedema secondary to hepatitis c virus and successfully treated with antiviral therapy. (26437283)
2015
16
Dermato-neuro syndrome in a case of scleromyxedema. (27708955)
2015
17
Dermato-neuro syndrome associated with scleromyxedema. (26261151)
2015
18
Scleromyxedema: An Atypical Case. (26120184)
2015
19
An interstitial granulomatous pattern in scleromyxedema with dermato-neuro syndrome. (25640815)
2015
20
Scleromyxedema with histology resembling granuloma annulare. (25780962)
2014
21
Scleromyxedema. (25215418)
2014
22
Atypical scleromyxedema with prominent nodular lesions associated with immune thrombocytopenia: an unusual presentation. (25219747)
2014
23
Scleromyxedema complicated by dermato-neuro syndrome during pregnancy. (25372807)
2014
24
Scleromyxedema: a case clinically and histologically responsive to intravenous immunoglobulin. (24847409)
2014
25
A case of atypical scleromyxedema without gammopathy treated with cyclosporine. (24823421)
2014
26
Scleromyxedema without paraproteinemia. (24527753)
2014
27
Dermato-Neuro Syndrome in a Patient Treated With Autologous Stem Cell Transplant for Scleromyxedema. (25065780)
2014
28
Scleromyxedema. (25366027)
2014
29
Periocular Scleromyxedema. (24807804)
2014
30
Allogeneic stem cell transplantation for the treatment of refractory scleromyxedema. (24999269)
2014
31
Resident Rounds part III: scleromyxedema: a rare disorder associated with a monoclonal gammopathy. (24809891)
2014
32
Granulomatous Scleromyxedema: Case Report and Literature Review. (24247576)
2013
33
Scleromyxedema: a rare disorder and its treatment difficulties. (24278061)
2013
34
Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin. (24348379)
2013
35
Scleromyxedema: a novel therapeutic approach. (24238173)
2013
36
Combination of intravenous immunoglobulins and lenalidomide in the treatment of scleromyxedema. (23866873)
2013
37
Scleromyxedema: a case report and review of the literature. (23874293)
2013
38
Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy. (23681113)
2013
39
Successful treatment of scleromyxedema with oral thalidomide. (23231733)
2013
40
Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients. (23453242)
2013
41
Scleromyxedema: a cutaneous paraneoplastic syndrome associated with thymic carcinoma. (22162593)
2012
42
Scleromyxedema and the dermato-neuro syndrome: case report and review of the literature. (22515222)
2012
43
Scleromyxedema with monoclonal gammopathy and neurological involvement: recovery from coma after plasmapheresis? (21671910)
2012
44
The combination of bortezomib and dexamethasone is an efficient therapy for relapsed/refractory scleromyxedema: a rare disease with new clinical insights. (22404151)
2012
45
Scleromyxedema and dermatoa89neuro syndrome in a patient with multiple myeloma effectively treated with dexamethasone and bortezomib. (22026006)
2011
46
Scleromyxedema vs scleredema: a diagnostic challenge. (21771713)
2011
47
Scleroderma renal crisis-like acute renal failure associated with mucopolysaccharide accumulation in renal vessels in a patient with scleromyxedema. (21869708)
2011
48
Response to bortezomib of a patient with scleromyxedema refractory to other therapies. (21831425)
2011
49
Generalized papular and sclerodermoid eruption: scleromyxedema. (20827020)
2010
50
Scleromyxedema-like syndrome with systemic involvement in a cat. (20110223)
2010

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
29.1FGF2, PIK3C2A
3
Show member pathways
9.1FGF2, PIK3C2A
49.0F13A1, FGF2

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 biosynthetic processGO:00066619.7FGF2, PIK3C2A
2phosphatidylinositol phosphorylationGO:00468549.7FGF2, PIK3C2A
3phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.7FGF2, PIK3C2A
4phosphatidylinositol-mediated signalingGO:00480159.1FGF2, PIK3C2A

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet