MCID: SCL025
MIFTS: 34

Scleromyxedema

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Scleromyxedema

MalaCards integrated aliases for Scleromyxedema:

Name: Scleromyxedema 49 55 69
Generalized Papular and Sclerodermoid Lichen Myxedematosus 49 55
Generalized Lichenoid Papular Eruption 49 55
Arndt-Gottron Disease 49 55
Generalized Papular and Sclerodermoid 49

Characteristics:

Orphanet epidemiological data:

55
scleromyxedema
Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

Orphanet 55 ORPHA167635
MESH via Orphanet 42 D053718
UMLS via Orphanet 70 C0263390
ICD10 via Orphanet 33 L98.5
UMLS 69 C0263390

Summaries for Scleromyxedema

NIH Rare Diseases : 49 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. 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/superpathways are VEGF Signaling Pathway and Interleukin-4 and 13 signaling. Affiliated tissues include skin, thyroid and bone, and related phenotype is cardiovascular system.

Related Diseases for Scleromyxedema

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 scleromyxedema without monoclonal gammopathy 11.9
2 papular mucinosis 11.8
3 myopathy 10.1
4 progressive nodular histiocytosis 10.0 ACTC1 F13A1
5 fibroblastic rheumatism 10.0 ACTC1 F13A1
6 angiolipoma 9.9 ACTC1 F13A1
7 cutaneous fibrous histiocytoma 9.9 ACTC1 F13A1
8 dedifferentiated liposarcoma 9.9 ACTC1 F13A1
9 non-langerhans-cell histiocytosis 9.9 ACTC1 F13A1
10 scleredema 9.9
11 encephalopathy 9.9
12 hemangiopericytoma, malignant 9.9 ACTC1 F13A1
13 malignant fibroxanthoma 9.9 ACTC1 F13A1
14 nephrogenic systemic fibrosis 9.8
15 cutis laxa 9.8
16 granuloma annulare 9.8
17 fibrosis of extraocular muscles, congenital, 1 9.8
18 myositis 9.8
19 myeloma, multiple 9.8
20 dermatomyositis 9.8
21 fibrous histiocytoma 9.8 ACTC1 F13A1
22 dermatofibrosarcoma protuberans 9.7 ACTC1 F13A1
23 juvenile nasopharyngeal angiofibroma 9.7 ACTC1 FGF2
24 glomangioma 9.7 ACTC1 FGF2
25 pericardial effusion 9.7 FGF2 PIK3C2A
26 arthritis 9.7
27 dermatitis 9.7
28 crohn's disease 9.7
29 cerebritis 9.7
30 multiple sclerosis 9.7
31 hepatitis 9.7
32 laryngitis 9.7
33 leukemia 9.7
34 retinitis 9.7
35 paraneoplastic syndromes 9.7
36 thrombocytopenia 9.7
37 arthropathy 9.7
38 lymphoma, hodgkin, classic 9.7
39 lymphoma 9.7
40 pyoderma 9.7
41 myxedema 9.7
42 corneal deposit 9.7
43 pustulosis of palm and sole 9.7
44 dermatitis, atopic 9.7
45 retinal vasculitis 9.7
46 seminoma 9.7
47 lymphoma, non-hodgkin, familial 9.7
48 esophagitis 9.7
49 macular retinal edema 9.7
50 hepatitis c virus 9.7

Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to Scleromyxedema

Symptoms & Phenotypes for Scleromyxedema

MGI Mouse Phenotypes related to Scleromyxedema:

43
# 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:

38
Skin, Thyroid, Bone, Bone Marrow, Lymph Node

Publications for Scleromyxedema

Articles related to Scleromyxedema:

(show top 50) (show all 181)
# Title Authors Year
1
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
2
Paraneoplastic atypical scleromyxedema with advanced gastric cancer. ( 28831414 )
2017
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
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
7
Scleromyxedema without Paraproteinemia: Treatment with Thalidomide and Prednisolone. ( 27990110 )
2016
8
Scleromyxedema Clinically Resembling to Scleroderma. ( 26951784 )
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
Histopathologic characteristics of scleromyxedema: AA study of a series of 34 cases. ( 26897387 )
2016
11
Scleromyxedema. ( 26858056 )
2016
12
Scleromyxedema without paraproteinemia. ( 26971585 )
2016
13
Successful treatment of scleromyxedema with melphalan and dexamethasone followed by thalidomide maintenance therapy. ( 27118492 )
2016
14
SCLEROMYXEDEMA WITH RETINAL VASCULITIS AND MACULAR EDEMA. ( 27348792 )
2016
15
A rare association of scleromyxedema with cutis verticis gyrata. ( 27294055 )
2016
16
Scleromyxedema: clinical diagnosis and autopsy findings. ( 28300892 )
2016
17
Scleromyxedema: long-term follow-up after high-dose melphalan with autologous stem cell transplantation. ( 27207484 )
2016
18
Atypical scleromyxedema presenting with cutaneous and cardiovascular manifestations. ( 27698568 )
2016
19
A Case of Autoimmune Polyglandular Syndrome .ype 2 Associated with Atypical Form of Scleromyxedema. ( 28446858 )
2016
20
Neurological Involvement in the Course of Scleromyxedema: A Case Report. ( 27282303 )
2016
21
Scleromyxedema (papular mucinosis) with dermato-neuro syndrome: A rare, potentially fatal complication. ( 26051450 )
2015
22
Scleromyxedema, a therapeutic dilemma. ( 25814746 )
2015
23
Scleromyxedema: An Atypical Case. ( 26120184 )
2015
24
Dermato-neuro syndrome associated with scleromyxedema. ( 26261151 )
2015
25
An interstitial granulomatous pattern in scleromyxedema with dermato-neuro syndrome. ( 25640815 )
2015
26
Scleromyxedema secondary to hepatitis c virus and successfully treated with antiviral therapy. ( 26437283 )
2015
27
Dermato-neuro syndrome in a case of scleromyxedema. ( 27708955 )
2015
28
Periocular Scleromyxedema. ( 24807804 )
2014
29
Dermato-Neuro Syndrome in a Patient Treated With Autologous Stem Cell Transplant for Scleromyxedema. ( 25065780 )
2014
30
Scleromyxedema. ( 25366027 )
2014
31
Scleromyxedema with histology resembling granuloma annulare. ( 25780962 )
2014
32
Atypical scleromyxedema with prominent nodular lesions associated with immune thrombocytopenia: an unusual presentation. ( 25219747 )
2014
33
Scleromyxedema without paraproteinemia. ( 24527753 )
2014
34
Allogeneic stem cell transplantation for the treatment of refractory scleromyxedema. ( 24999269 )
2014
35
A case of atypical scleromyxedema without gammopathy treated with cyclosporine. ( 24823421 )
2014
36
Scleromyxedema. ( 25215418 )
2014
37
Resident Rounds part III: scleromyxedema: a rare disorder associated with a monoclonal gammopathy. ( 24809891 )
2014
38
Scleromyxedema: a case clinically and histologically responsive to intravenous immunoglobulin. ( 24847409 )
2014
39
Scleromyxedema complicated by dermato-neuro syndrome during pregnancy. ( 25372807 )
2014
40
Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients. ( 23453242 )
2013
41
Granulomatous Scleromyxedema: Case Report and Literature Review. ( 24247576 )
2013
42
Successful treatment of scleromyxedema with oral thalidomide. ( 23231733 )
2013
43
Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin. ( 24348379 )
2013
44
Scleromyxedema: a novel therapeutic approach. ( 24238173 )
2013
45
Scleromyxedema: a case report and review of the literature. ( 23874293 )
2013
46
Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy. ( 23681113 )
2013
47
Combination of intravenous immunoglobulins and lenalidomide in the treatment of scleromyxedema. ( 23866873 )
2013
48
Scleromyxedema: a rare disorder and its treatment difficulties. ( 24278061 )
2013
49
Scleromyxedema: a cutaneous paraneoplastic syndrome associated with thymic carcinoma. ( 22162593 )
2012
50
The combination of bortezomib and dexamethasone is an efficient therapy for relapsed/refractory scleromyxedema: a rare disease with new clinical insights. ( 22404151 )
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 9.16 FGF2 PIK3C2A
2 phosphatidylinositol biosynthetic process GO:0006661 8.96 FGF2 PIK3C2A
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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