MCID: SCL025
MIFTS: 34

Scleromyxedema

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Scleromyxedema

MalaCards integrated aliases for Scleromyxedema:

Name: Scleromyxedema 53 59 73
Generalized Papular and Sclerodermoid Lichen Myxedematosus 53 59
Generalized Lichenoid Papular Eruption 53 59
Arndt-Gottron Disease 53 59
Generalized Papular and Sclerodermoid 53

Characteristics:

Orphanet epidemiological data:

59
scleromyxedema
Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA167635
ICD10 via Orphanet 34 L98.5
MESH via Orphanet 45 D053718
UMLS via Orphanet 74 C0263390
UMLS 73 C0263390

Summaries for Scleromyxedema

NIH Rare Diseases : 53 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 tissuecells) 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.

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/superpathways are VEGF Signaling Pathway and Interleukin-4 and 13 signaling. Affiliated tissues include skin, thyroid and bone, and related phenotype is cardiovascular system.

Wikipedia : 76 Papular mucinosis (also known as Scleromyxedema, \"Generalized lichen myxedematosus,\" and... more...

Related Diseases for Scleromyxedema

Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to Scleromyxedema

Symptoms & Phenotypes for Scleromyxedema

MGI Mouse Phenotypes related to Scleromyxedema:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.92 ACTC1 F13A1 FGF2 PIK3C2A

Drugs & Therapeutics for Scleromyxedema

Search Clinical Trials , NIH Clinical Center for Scleromyxedema

Genetic Tests for Scleromyxedema

Anatomical Context for Scleromyxedema

MalaCards organs/tissues related to Scleromyxedema:

41
Skin, Thyroid, Bone, Bone Marrow, Lymph Node

Publications for Scleromyxedema

Articles related to Scleromyxedema:

(show top 50) (show all 184)
# Title Authors Year
1
Leonine facies presenting as scleromyxedema. ( 29676525 )
2018
2
Letter on 'European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 2: Scleromyxedema, scleredema and nephrogenic systemic fibrosis'. ( 29283443 )
2018
3
Ineffectiveness of infliximab CT-P13 for the treatment of scleromyxedema: A case report. ( 29214719 )
2017
4
A case of scleromyxedema responding to lenalidomide and dexamethasone. ( 28217476 )
2017
5
Interstitial Granulomatous Variant of Scleromyxedema-A Diagnostic Pitfall. ( 28961556 )
2017
6
Paraneoplastic atypical scleromyxedema with advanced gastric cancer. ( 28831414 )
2017
7
European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 2: Scleromyxedema, scleredema and nephrogenic systemic fibrosis. ( 28786499 )
2017
8
SCLEROMYXEDEMA WITH RETINAL VASCULITIS AND MACULAR EDEMA. ( 27348792 )
2016
9
Frequency of cutis laxa-like clinical features and elastolysis in scleromyxedema: a retrospective clinicopathologic study of 19 patients with scleromyxedema. ( 26676919 )
2016
10
Scleromyxedema Clinically Resembling to Scleroderma. ( 26951784 )
2016
11
A Case of Autoimmune Polyglandular Syndrome .ype 2 Associated with Atypical Form of Scleromyxedema. ( 28446858 )
2016
12
Neurological Involvement in the Course of Scleromyxedema: A Case Report. ( 27282303 )
2016
13
Scleromyxedema without Paraproteinemia: Treatment with Thalidomide and Prednisolone. ( 27990110 )
2016
14
Successful treatment of scleromyxedema with melphalan and dexamethasone followed by thalidomide maintenance therapy. ( 27118492 )
2016
15
Scleromyxedema: long-term follow-up after high-dose melphalan with autologous stem cell transplantation. ( 27207484 )
2016
16
A rare association of scleromyxedema with cutis verticis gyrata. ( 27294055 )
2016
17
Histopathologic characteristics of scleromyxedema: AA study of a series of 34 cases. ( 26897387 )
2016
18
Scleromyxedema without paraproteinemia. ( 26971585 )
2016
19
Scleromyxedema. ( 26858056 )
2016
20
Atypical scleromyxedema presenting with cutaneous and cardiovascular manifestations. ( 27698568 )
2016
21
Scleromyxedema: clinical diagnosis and autopsy findings. ( 28300892 )
2016
22
An interstitial granulomatous pattern in scleromyxedema with dermato-neuro syndrome. ( 25640815 )
2015
23
Scleromyxedema: An Atypical Case. ( 26120184 )
2015
24
Dermato-neuro syndrome associated with scleromyxedema. ( 26261151 )
2015
25
Scleromyxedema (papular mucinosis) with dermato-neuro syndrome: A rare, potentially fatal complication. ( 26051450 )
2015
26
Dermato-neuro syndrome in a case of scleromyxedema. ( 27708955 )
2015
27
Scleromyxedema secondary to hepatitis c virus and successfully treated with antiviral therapy. ( 26437283 )
2015
28
Scleromyxedema, a therapeutic dilemma. ( 25814746 )
2015
29
Scleromyxedema without paraproteinemia. ( 24527753 )
2014
30
Scleromyxedema. ( 25366027 )
2014
31
Resident Rounds part III: scleromyxedema: a rare disorder associated with a monoclonal gammopathy. ( 24809891 )
2014
32
Scleromyxedema complicated by dermato-neuro syndrome during pregnancy. ( 25372807 )
2014
33
Scleromyxedema: a case clinically and histologically responsive to intravenous immunoglobulin. ( 24847409 )
2014
34
Scleromyxedema. ( 25215418 )
2014
35
Scleromyxedema with histology resembling granuloma annulare. ( 25780962 )
2014
36
Periocular Scleromyxedema. ( 24807804 )
2014
37
A case of atypical scleromyxedema without gammopathy treated with cyclosporine. ( 24823421 )
2014
38
Dermato-Neuro Syndrome in a Patient Treated With Autologous Stem Cell Transplant for Scleromyxedema. ( 25065780 )
2014
39
Allogeneic stem cell transplantation for the treatment of refractory scleromyxedema. ( 24999269 )
2014
40
Atypical scleromyxedema with prominent nodular lesions associated with immune thrombocytopenia: an unusual presentation. ( 25219747 )
2014
41
Successful treatment of scleromyxedema with oral thalidomide. ( 23231733 )
2013
42
Scleromyxedema: a novel therapeutic approach. ( 24238173 )
2013
43
Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin. ( 24348379 )
2013
44
Scleromyxedema: a rare disorder and its treatment difficulties. ( 24278061 )
2013
45
Granulomatous Scleromyxedema: Case Report and Literature Review. ( 24247576 )
2013
46
Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients. ( 23453242 )
2013
47
Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy. ( 23681113 )
2013
48
Combination of intravenous immunoglobulins and lenalidomide in the treatment of scleromyxedema. ( 23866873 )
2013
49
Scleromyxedema: a case report and review of the literature. ( 23874293 )
2013
50
Scleromyxedema: a cutaneous paraneoplastic syndrome associated with thymic carcinoma. ( 22162593 )
2012

Variations for Scleromyxedema

Expression for Scleromyxedema

Search GEO for disease gene expression data for Scleromyxedema.

Pathways for Scleromyxedema

Pathways related to Scleromyxedema according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 FGF2 PIK3C2A
2 11.21 F13A1 FGF2
3 10.68 ACTC1 FGF2
4 10.29 FGF2 PIK3C2A

GO Terms for Scleromyxedema

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 ACTC1 F13A1

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 9.26 FGF2 PIK3C2A
2 phosphatidylinositol biosynthetic process GO:0006661 9.16 FGF2 PIK3C2A
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.96 FGF2 PIK3C2A
4 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 8.62 FGF2 PIK3C2A

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

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 8.62 FGF2 PIK3C2A

Sources for Scleromyxedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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