MCID: SCL025
MIFTS: 32

Scleromyxedema malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Scleromyxedema

Aliases & Descriptions 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
ICD10 via Orphanet 34 L98.5
MESH via Orphanet 43 D053718
UMLS via Orphanet 70 C0263390

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 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/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 : 71 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 57)
id Related Disease Score Top Affiliating Genes
1 scleromyxedema without monoclonal gammopathy 11.8
2 papular mucinosis 11.7
3 dystrophic epidermolysis bullosa, nails only 10.0 ACTC1 F13A1
4 oral erosive lichen 10.0 ACTC1 F13A1
5 congenital myasthenic syndrome 10.0 ACTC1 F13A1
6 dyslexia 10.0 ACTC1 F13A1
7 house allergic alveolitis 10.0 ACTC1 F13A1
8 tinea favosa 10.0 ACTC1 F13A1
9 diarrhea, chronic, with villous atrophy 10.0 ACTC1 F13A1
10 myopathy 10.0
11 caroli disease 9.9 ACTC1 F13A1
12 juvenile xanthogranuloma 9.9 ACTC1 F13A1
13 glycerol kinase deficiency, adult form 9.9 ACTC1 FGF2
14 urinary bladder posterior wall cancer 9.9 FGF2 PIK3C2A
15 hyperpituitarism 9.9 ACTC1 FGF2
16 neutrophil immunodeficiency syndrome 9.9 ACTC1 F13A1
17 hemolytic anemia 9.8 ACTC1 FGF2
18 encephalopathy 9.8
19 dentine erosion 9.8 ACTC1 F13A1
20 dermatomyositis 9.7
21 myositis 9.7
22 multiple myeloma 9.7
23 cutis laxa 9.7
24 granuloma annulare 9.7
25 thrombocytopenia 9.6
26 retinitis 9.6
27 lymphoma 9.6
28 arthropathy 9.6
29 pyoderma 9.6
30 corneal deposit 9.6
31 retinal vasculitis 9.6
32 seminoma 9.6
33 myxedema 9.6
34 esophagitis 9.6
35 hyperthyroidism 9.6
36 urticaria 9.6
37 pyoderma gangrenosum 9.6
38 hodgkin lymphoma 9.6
39 rheumatic disease 9.6
40 vasculitis 9.6
41 hepatitis c virus 9.6
42 hepatitis c 9.6
43 psoriasis 9.6
44 monoclonal paraproteinemia 9.6
45 cutis verticis gyrata 9.6
46 arthritis 9.6
47 dermatitis 9.6
48 crohn's disease 9.6
49 scleredema 9.6
50 atopic dermatitis 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 173)
id Title Authors Year
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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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