MCID: SCL025
MIFTS: 37

Scleromyxedema

Categories: Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Scleromyxedema

MalaCards integrated aliases for Scleromyxedema:

Name: Scleromyxedema 20 58 70
Generalized Papular and Sclerodermoid Lichen Myxedematosus 20 58
Generalized Lichenoid Papular Eruption 20 58
Arndt-Gottron Disease 20 58
Generalized Papular and Sclerodermoid 20

Characteristics:

Orphanet epidemiological data:

58
scleromyxedema
Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

MESH via Orphanet 45 D053718
ICD10 via Orphanet 33 L98.5
UMLS via Orphanet 71 C0263390
Orphanet 58 ORPHA167635
UMLS 70 C0263390

Summaries for Scleromyxedema

GARD : 20 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.

MalaCards based summary : Scleromyxedema, also known as generalized papular and sclerodermoid lichen myxedematosus, is related to papular mucinosis and scleromyxedema without monoclonal gammopathy. An important gene associated with Scleromyxedema is ACTC1 (Actin Alpha Cardiac Muscle 1), and among its related pathways/superpathways are Interleukin-4 and 13 signaling and Cardiac Progenitor Differentiation. Affiliated tissues include bone marrow, skeletal muscle and kidney, and related phenotypes are seizures and dysphagia

Wikipedia : 73 Papular mucinosis (also known as Scleromyxedema, "Generalized lichen myxedematosus," and "Sclerodermoid... more...

Related Diseases for Scleromyxedema

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

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 papular mucinosis 11.4
2 scleromyxedema without monoclonal gammopathy 11.0
3 myopathy 10.4
4 systemic scleroderma 10.4
5 skin disease 10.3
6 ocular motor apraxia 10.2
7 dysphagia 10.2
8 scleroderma, familial progressive 10.2
9 exanthem 10.2
10 myositis 10.1
11 granuloma annulare 10.1
12 connective tissue disease 10.1
13 myeloma, multiple 10.1
14 scleredema adultorum 10.1
15 mucinoses 10.1
16 monoclonal gammopathy of uncertain significance 10.1
17 nephrogenic systemic fibrosis 10.1
18 encephalopathy 10.1
19 hypothyroidism 10.1
20 monoclonal paraproteinemia 10.1
21 lymphoma, hodgkin, classic 10.0
22 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
23 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
24 dermatomyositis 10.0
25 thyroiditis 10.0
26 hypereosinophilic syndrome 10.0
27 cutaneous sclerosis 10.0
28 progressive nodular histiocytosis 9.9 F13A1 ACTC1
29 fibroblastic rheumatism 9.9 F13A1 ACTC1
30 angiolipoma 9.9 F13A1 ACTC1
31 non-langerhans-cell histiocytosis 9.9 F13A1 ACTC1
32 fibroma 9.9 F13A1 ACTC1
33 cutaneous fibrous histiocytoma 9.9 F13A1 ACTC1
34 fibrous histiocytoma 9.9 F13A1 ACTC1
35 hemangiopericytoma, malignant 9.9 F13A1 ACTC1
36 fibrosis of extraocular muscles, congenital, 1 9.9
37 hashimoto thyroiditis 9.9
38 myxedema 9.9
39 lymphoma, non-hodgkin, familial 9.9
40 aphasia 9.9
41 polyneuropathy 9.9
42 viral hepatitis 9.9
43 cutis laxa 9.9
44 plasmacytoma 9.9
45 macular retinal edema 9.9
46 plasma cell neoplasm 9.9
47 raynaud phenomenon 9.9
48 acral persistent papular mucinosis 9.9
49 malignant fibrous histiocytoma 9.9 F13A1 ACTC1
50 neurofibroma 9.9 F13A1 ACTC1

Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to Scleromyxedema

Symptoms & Phenotypes for Scleromyxedema

Human phenotypes related to Scleromyxedema:

58 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 Occasional (29-5%)
2 dysphagia 58 Frequent (79-30%)
3 generalized abnormality of skin 58 Very frequent (99-80%)
4 gastroesophageal reflux 58 Occasional (29-5%)
5 myopathy 58 Frequent (79-30%)
6 abnormality of the cardiovascular system 58 Occasional (29-5%)
7 elevated serum creatine kinase 58 Frequent (79-30%)
8 transient ischemic attack 58 Very rare (<4-1%)
9 arthralgia 58 Frequent (79-30%)
10 myalgia 58 Occasional (29-5%)
11 abnormality of the face 58 Frequent (79-30%)
12 narrow mouth 58 Occasional (29-5%)
13 abnormality of the neck 58 Frequent (79-30%)
14 stroke 58 Very rare (<4-1%)
15 abnormality of the kidney 58 Occasional (29-5%)
16 abnormal lung morphology 58 Occasional (29-5%)
17 abnormality of the gastrointestinal tract 58 Occasional (29-5%)
18 papule 58 Very frequent (99-80%)
19 pruritus 58 Occasional (29-5%)
20 thickened skin 58 Frequent (79-30%)
21 encephalopathy 58 Occasional (29-5%)
22 coma 58 Very rare (<4-1%)
23 distal muscle weakness 58 Occasional (29-5%)
24 exertional dyspnea 58 Occasional (29-5%)
25 proximal muscle weakness 58 Frequent (79-30%)
26 abnormality of the hand 58 Frequent (79-30%)
27 raynaud phenomenon 58 Occasional (29-5%)
28 hypoperistalsis 58 Occasional (29-5%)
29 abnormal pulmonary artery morphology 58 Very rare (<4-1%)
30 abnormality of the glabella 58 Frequent (79-30%)
31 sclerodactyly 58 Frequent (79-30%)
32 multiple myeloma 58 Very rare (<4-1%)
33 abnormal skeletal muscle morphology 58 Occasional (29-5%)
34 stiff skin 58 Frequent (79-30%)
35 paraproteinemia 58 Very frequent (99-80%)
36 abnormality of thyroid physiology 58 Excluded (0%)
37 abnormal coronary artery morphology 58 Very rare (<4-1%)
38 skin-colored papule 58 Frequent (79-30%)
39 abnormality of the forearm 58 Frequent (79-30%)
40 aged leonine appearance 58 Occasional (29-5%)
41 abnormality of central nervous system electrophysiology 58 Occasional (29-5%)

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigating Hyaluronidase in Treating Oral Microstomia in Patients With Sclerosing Skin Disease Withdrawn NCT04656704 Early Phase 1 hyaluronidase injected intradermally

Search NIH Clinical Center for Scleromyxedema

Genetic Tests for Scleromyxedema

Anatomical Context for Scleromyxedema

MalaCards organs/tissues related to Scleromyxedema:

40
Bone Marrow, Skeletal Muscle, Kidney, Lung, Thyroid, Skin, Lymph Node

Publications for Scleromyxedema

Articles related to Scleromyxedema:

(show top 50) (show all 393)
# Title Authors PMID Year
1
IgG1 Subclass Restriction and Biochemical Peculiarities of Monoclonal Immunoglobulins in Scleromyxedema. 61
33739037 2021
2
Treatment of scleromyxedema with lenalidomide, bortezomib and dexamethasone: A case report and review of the literature. 61
33363876 2020
3
Scleromyxedema. 61
33373143 2020
4
Scleromyxedema in a 21 year old female patient with acute lymphoblastic leukemia: a case report. 61
33276772 2020
5
Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation. 61
33029882 2020
6
Scleromyxedema treatment: a systematic review and update. 61
32358980 2020
7
Immunotherapy-refractory vacuolar myopathy with mucin deposition in scleromyxedema: A possible role of fibroblast growth factor 2. 61
32424839 2020
8
Acute Encephalitic Syndrome Induced by Scleromyxedema. 61
32540147 2020
9
A Rare Case of Tumoral Scleromyxedema. 61
32831375 2020
10
Long-Term Efficacy of Treatment with Intravenous Immunoglobulin in Scleromyxedema. 61
32650847 2020
11
Characterization of circulating myeloma tumor cells by next generation flowcytometry in scleromyxedema patient: a case report. 61
32629647 2020
12
Scleromyxedema histopathologically mimicking hypercellular fibrous papules (angiofibomas): Case report of an unusual histopathological presentation. 61
32048744 2020
13
Clinical and Molecular Phenotyping in Scleromyxedema Pretreatment and Posttreatment With Intravenous Immunoglobulin. 61
31008568 2020
14
Increased frequency of interleukin-4 and reduced frequency of interferon-γ and IL-17-producing CD4+ and CD8+ cells in scleromyxedema. 61
31912592 2020
15
Scleromyxedema with multiple systemic involvement: Successful treatment with intravenous immunoglobulin. 61
32250023 2020
16
Plasma cell-directed therapies in monoclonal gammopathy-associated scleromyxedema. 61
32027747 2020
17
Sclerodermalike syndromes: Great imitators. 61
32513403 2020
18
Successful Coronary Artery Bypass Grafting in a Patient With Uncontrolled Scleromyxedema. 61
32257724 2020
19
Lichen Myxedematosus: Case Report and Review of Literature. 61
32550685 2020
20
Scleromyxedema and Hyperphosphatemia: Causal Relationship or Coincidence? 61
32028300 2020
21
Generalized Acquired Cutis Laxa Associated with Monoclonal Gammopathy of Dermatological Significance. 61
32099688 2020
22
Severe but reversible pulmonary hypertension in scleromyxedema and multiple myeloma: a case report. 61
31918690 2020
23
Scleromyxedema in a patient with thyroid disease: an atypical case or a case for revised criteria? 61
32074156 2020
24
Scleromyxedema and lichen myxedematosus: Is it associated with viral hepatitis? 61
31461182 2019
25
[Paraneoplastic skin diseases]. 61
31273399 2019
26
[Sclerosing skin diseases]. 61
31292667 2019
27
Myopathy and scleromyxedema. 61
31115676 2019
28
Localized Lichen Myxedematosus With Plasma Cell Light Chain Restriction: Is It the Exception or the Rule? 61
30601206 2019
29
Cutaneous paraneoplastic syndromes. 61
30736994 2019
30
Lichen myxedematosus: a rare group of cutaneous mucinosis. 61
33272513 2019
31
Dermoscopy and reflectance confocal microscopy for the diagnosis of scleromyxedema. 61
31193003 2019
32
Unwelcomed face of scleromyxedema. 61
30746691 2019
33
An unusual presentation of scleromyxedema as inflammatory myopathy. 61
31309176 2019
34
Scleromyxedema (Arndt - Gottron Syndrome) Developing Under Tenofovir Treatment for Hepatitis B: Unique Presentation in a Bulgarian Patient! 61
30962839 2019
35
[Mimetics of systemic sclerosis]. 61
30255410 2019
36
Discrete Papular Lichen Myxedematosus and Scleromyxedema with Hypothyroidism: A Report of Two Cases. 61
31011315 2019
37
High-Dose Intravenous Immunoglobulin in Skin Autoimmune Disease. 61
31244821 2019
38
Plasma Cell Myeloma Masquerading as Scleromyxedema. 61
30775299 2019
39
ACUTE MYOCARDITIS WITH CARDIOGENIC SHOCK AND MULTIPLE ORGAN FAILURE, FOLLOWED BY BILATERAL PANUVEITIS MASQUERADING AS ENDOGENOUS ENDOPHTHALMITIS, DUE TO TOXOPLASMA GONDII IN AN IMMUNOCOMPETENT PATIENT. 61
30664080 2019
40
Lichen myxedematosus: a rare group of cutaneous mucinosis. 61
31644623 2019
41
[Scleromyxedema]. 61
30135969 2018
42
Monoclonal Gammopathy-Associated Scleromyxedema Presenting as Leonine Facies. 61
29676525 2018
43
Interstitial Granulomatous Variant of Scleromyxedema-A Diagnostic Pitfall. 61
28961556 2018
44
Scleroderma with an update about clinico-pathological correlation. 61
29368844 2018
45
Scleroderma-like Disorders. 61
28606036 2018
46
Ineffectiveness of infliximab CT-P13 for the treatment of scleromyxedema: A case report. 61
29214719 2018
47
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'. 61
29283443 2018
48
[Scleromyxedema as a systemic disease of glycosaminoglycan accumulation]. 61
29927441 2018
49
Review of Primary Cutaneous Mucinoses in Nonlupus Connective Tissue Diseases. 61
28673091 2018
50
[Is scleromyxedema a skin problem or systemic pathological process?] 61
29460897 2018

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 11.21 FGF2 F13A1
2 10.68 FGF2 ACTC1
3 10.29 PIK3C2A FGF2

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 F13A1 ACTC1

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol biosynthetic process GO:0006661 8.96 PIK3C2A FGF2
2 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 8.62 PIK3C2A FGF2

Sources for Scleromyxedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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