MCID: SCL025
MIFTS: 32

Scleromyxedema

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Scleromyxedema

MalaCards integrated aliases for Scleromyxedema:

Name: Scleromyxedema 50 56 69
Generalized Papular and Sclerodermoid Lichen Myxedematosus 50 56
Generalized Lichenoid Papular Eruption 50 56
Arndt-Gottron Disease 50 56
Generalized Papular and Sclerodermoid 50

Characteristics:

Orphanet epidemiological data:

56
scleromyxedema
Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Orphanet 56 ORPHA167635
MESH via Orphanet 43 D053718
UMLS via Orphanet 70 C0263390
ICD10 via Orphanet 34 L98.5

Summaries for Scleromyxedema

NIH Rare Diseases : 50 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.

Wikipedia : 72 Papular mucinosis (also known as \"Scleromyxedema,\" \"Generalized lichen myxedematosus,\" and... more...

Related Diseases for Scleromyxedema

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

(show top 50) (show all 58)
id Related Disease Score Top Affiliating Genes
1 scleromyxedema without monoclonal gammopathy 11.8
2 papular mucinosis 11.3
3 tracheo-esophageal fistula-hypospadias syndrome 10.0 ACTC1 F13A1
4 telo2-related intellectual disability-neurodevelopmental disorder 10.0 ACTC1 F13A1
5 aortic aneurysm 10.0 ACTC1 F13A1
6 juvenile xanthogranuloma 10.0 ACTC1 F13A1
7 myopathy 10.0
8 secondary pulmonary hemosiderosis 10.0 ACTC1 F13A1
9 splenic manifestation of prolymphocytic leukemia 9.9 ACTC1 F13A1
10 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 9.9 ACTC1 F13A1
11 encephalopathy 9.8
12 small cell neuroendocrine carcinoma 9.8 ACTC1 F13A1
13 multiple myeloma 9.7
14 granuloma annulare 9.7
15 dermatomyositis 9.7
16 cutis laxa 9.7
17 myositis 9.7
18 scleredema 9.7
19 malignant adenofibroma 9.7 ACTC1 F13A1
20 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 9.7 ACTC1 FGF2
21 hyperpituitarism 9.7 ACTC1 FGF2
22 urinary bladder posterior wall cancer 9.6 FGF2 PIK3C2A
23 neutrophil immunodeficiency syndrome 9.6 ACTC1 F13A1
24 hepatitis c virus 9.6
25 hodgkin lymphoma 9.6
26 arthritis 9.6
27 crohn's disease 9.6
28 hepatitis 9.6
29 leukemia 9.6
30 thrombocytopenia 9.6
31 lymphoma 9.6
32 corneal deposit 9.6
33 retinal vasculitis 9.6
34 myxedema 9.6
35 esophagitis 9.6
36 urticaria 9.6
37 rheumatic disease 9.6
38 hepatitis c 9.6
39 monoclonal paraproteinemia 9.6
40 dermatitis 9.6
41 atopic dermatitis 9.6
42 cerebritis 9.6
43 laryngitis 9.6
44 retinitis 9.6
45 arthropathy 9.6
46 pyoderma 9.6
47 seminoma 9.6
48 hyperthyroidism 9.6
49 pyoderma gangrenosum 9.6
50 vasculitis 9.6

Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to Scleromyxedema

Symptoms & Phenotypes for Scleromyxedema

MGI Mouse Phenotypes related to Scleromyxedema:

44
id 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:

39
Skin, Thyroid, Bone, Bone Marrow, Lymph Node

Publications for Scleromyxedema

Articles related to Scleromyxedema:

(show top 50) (show all 178)
id Title Authors Year
1
Paraneoplastic atypical scleromyxedema with advanced gastric cancer. ( 28831414 )
2017
2
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
3
A case of scleromyxedema responding to lenalidomide and dexamethasone. ( 28217476 )
2017
4
Scleromyxedema: clinical diagnosis and autopsy findings. ( 28300892 )
2016
5
Neurological Involvement in the Course of Scleromyxedema: A Case Report. ( 27282303 )
2016
6
Scleromyxedema without Paraproteinemia: Treatment with Thalidomide and Prednisolone. ( 27990110 )
2016
7
A rare association of scleromyxedema with cutis verticis gyrata. ( 27294055 )
2016
8
Scleromyxedema Clinically Resembling to Scleroderma. ( 26951784 )
2016
9
A Case of Autoimmune Polyglandular Syndrome .ype 2 Associated with Atypical Form of Scleromyxedema. ( 28446858 )
2016
10
Atypical scleromyxedema presenting with cutaneous and cardiovascular manifestations. ( 27698568 )
2016
11
Histopathologic characteristics of scleromyxedema: AA study of a series of 34 cases. ( 26897387 )
2016
12
Successful treatment of scleromyxedema with melphalan and dexamethasone followed by thalidomide maintenance therapy. ( 27118492 )
2016
13
Scleromyxedema. ( 26858056 )
2016
14
SCLEROMYXEDEMA WITH RETINAL VASCULITIS AND MACULAR EDEMA. ( 27348792 )
2016
15
Frequency of cutis laxa-like clinical features and elastolysis in scleromyxedema: a retrospective clinicopathologic study of 19 patients with scleromyxedema. ( 26676919 )
2016
16
Scleromyxedema: long-term follow-up after high-dose melphalan with autologous stem cell transplantation. ( 27207484 )
2016
17
Scleromyxedema without paraproteinemia. ( 26971585 )
2016
18
Scleromyxedema secondary to hepatitis c virus and successfully treated with antiviral therapy. ( 26437283 )
2015
19
Dermato-neuro syndrome in a case of scleromyxedema. ( 27708955 )
2015
20
Scleromyxedema (papular mucinosis) with dermato-neuro syndrome: A rare, potentially fatal complication. ( 26051450 )
2015
21
Scleromyxedema, a therapeutic dilemma. ( 25814746 )
2015
22
Scleromyxedema: An Atypical Case. ( 26120184 )
2015
23
An interstitial granulomatous pattern in scleromyxedema with dermato-neuro syndrome. ( 25640815 )
2015
24
Dermato-neuro syndrome associated with scleromyxedema. ( 26261151 )
2015
25
Scleromyxedema with histology resembling granuloma annulare. ( 25780962 )
2014
26
Scleromyxedema without paraproteinemia. ( 24527753 )
2014
27
Atypical scleromyxedema with prominent nodular lesions associated with immune thrombocytopenia: an unusual presentation. ( 25219747 )
2014
28
Scleromyxedema: a case clinically and histologically responsive to intravenous immunoglobulin. ( 24847409 )
2014
29
Dermato-Neuro Syndrome in a Patient Treated With Autologous Stem Cell Transplant for Scleromyxedema. ( 25065780 )
2014
30
Resident Rounds part III: scleromyxedema: a rare disorder associated with a monoclonal gammopathy. ( 24809891 )
2014
31
Scleromyxedema complicated by dermato-neuro syndrome during pregnancy. ( 25372807 )
2014
32
Scleromyxedema. ( 25366027 )
2014
33
A case of atypical scleromyxedema without gammopathy treated with cyclosporine. ( 24823421 )
2014
34
Allogeneic stem cell transplantation for the treatment of refractory scleromyxedema. ( 24999269 )
2014
35
Periocular Scleromyxedema. ( 24807804 )
2014
36
Scleromyxedema. ( 25215418 )
2014
37
Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy. ( 23681113 )
2013
38
Successful treatment of scleromyxedema with oral thalidomide. ( 23231733 )
2013
39
Scleromyxedema: a novel therapeutic approach. ( 24238173 )
2013
40
Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients. ( 23453242 )
2013
41
Scleromyxedema: a case report and review of the literature. ( 23874293 )
2013
42
Scleromyxedema: a rare disorder and its treatment difficulties. ( 24278061 )
2013
43
Granulomatous Scleromyxedema: Case Report and Literature Review. ( 24247576 )
2013
44
Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin. ( 24348379 )
2013
45
Combination of intravenous immunoglobulins and lenalidomide in the treatment of scleromyxedema. ( 23866873 )
2013
46
The combination of bortezomib and dexamethasone is an efficient therapy for relapsed/refractory scleromyxedema: a rare disease with new clinical insights. ( 22404151 )
2012
47
Scleromyxedema and the dermato-neuro syndrome: case report and review of the literature. ( 22515222 )
2012
48
Scleromyxedema with monoclonal gammopathy and neurological involvement: recovery from coma after plasmapheresis? ( 21671910 )
2012
49
Scleromyxedema: a cutaneous paraneoplastic syndrome associated with thymic carcinoma. ( 22162593 )
2012
50
Scleromyxedema vs scleredema: a diagnostic challenge. ( 21771713 )
2011

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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-mediated signaling GO:0048015 9.26 FGF2 PIK3C2A
2 phosphatidylinositol phosphorylation GO:0046854 9.16 FGF2 PIK3C2A
3 phosphatidylinositol biosynthetic process GO:0006661 8.96 FGF2 PIK3C2A
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.62 FGF2 PIK3C2A

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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