MCID: SCL025
MIFTS: 44

Scleromyxedema malady

Rare diseases, Skin diseases categories
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Summaries for Scleromyxedema

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NIH Rare Diseases:42 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. management may involve the use of intravenous immunoglobulin (ivig) and/or plasmapheresis, but no standard treatment exists. last updated: 4/18/2014

MalaCards based summary: Scleromyxedema, also known as generalized lichenoid papular eruption, is related to dermatitis and myopathy. An important gene associated with Scleromyxedema is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Cardiac Progenitor Differentiation and ErbB4 Pathway. The compounds s 100 and reticulin have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and lymph node, and related mouse phenotypes are mortality/aging and homeostasis/metabolism.

Wikipedia:65 Papular mucinosis (also known as \"Scleromyxedema,\" \"Generalized lichen myxedematosus,\" and... more...

Aliases & Classifications for Scleromyxedema

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Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Scleromyxedema, Aliases & Descriptions:

Name: Scleromyxedema 42 48 62
Generalized Lichenoid Papular Eruption 42 48
Arndt-Gottron Disease 42 48
 
Generalized Papular and Sclerodermoid Lichen Myxedematosus 48
Generalized Papular and Sclerodermoid 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


External Ids:

MESH via Orphanet35 D053718
ICD10 via Orphanet26 L98.5
UMLS via Orphanet63 C0263390

Related Diseases for Scleromyxedema

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Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to scleromyxedema

Symptoms for Scleromyxedema

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Drugs & Therapeutics for Scleromyxedema

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Drug clinical trials:

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Search NIH Clinical Center for Scleromyxedema

Genetic Tests for Scleromyxedema

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Anatomical Context for Scleromyxedema

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MalaCards organs/tissues related to Scleromyxedema:

32
Skin, Thyroid, Lymph node

Animal Models for Scleromyxedema or affiliated genes

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MGI Mouse Phenotypes related to Scleromyxedema:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0FGF2, ACTC1, F13A1, PIK3C2A
2MP:00053767.7FGF2, ACTC1, F13A1, PIK3C2A

Publications for Scleromyxedema

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Articles related to Scleromyxedema:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Scleromyxedema. (25366027)
2014
2
Periocular Scleromyxedema. (24807804)
2014
3
Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy. (23681113)
2013
4
Combination of intravenous immunoglobulins and lenalidomide in the treatment of scleromyxedema. (23866873)
2013
5
Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin. (24348379)
2013
6
Scleromyxedema with monoclonal gammopathy and neurological involvement: recovery from coma after plasmapheresis? (21671910)
2012
7
Scleromyxedema: a cutaneous paraneoplastic syndrome associated with thymic carcinoma. (22162593)
2012
8
Scleromyxedema vs scleredema: a diagnostic challenge. (21771713)
2011
9
Cardiomyopathy in scleromyxedema: report of a fatal case. (20977988)
2010
10
Scleromyxedema with an interstitial granulomatous-like pattern: a rare histologic variant mimicking granuloma annulare. (19638067)
2010
11
Treatment of scleromyxedema and the dermatoneuro syndrome with intravenous immunoglobulin. (19249127)
2009
12
Scleromyxedema with myopathy was successfully treated by thalidomide. (18435730)
2009
13
Suspected cardiac toxicity to intravenous immunoglobulin used for treatment of scleromyxedema. (18583794)
2008
14
Unusual granulomatous variant of scleromyxedema. (18485525)
2008
15
Scleroderma-like acute renal crisis in a patient with scleromyxedema. (17389621)
2007
16
Steady remission of scleromyxedema 3 years after autologous stem cell transplantation: an in vivo and in vitro study. (16822907)
2006
17
Can scleromyxedema be differentiated from nephrogenic fibrosing dermatopathy by the distribution of the infiltrate? (17083697)
2006
18
Tumorous variant of scleromyxedema. Successful therapy with intravenous immunoglobulins. (15987294)
2005
19
Successful treatment of scleromyxedema with dexamethasone cyclophosphamide pulse therapy. (16394362)
2005
20
High-dose dexamethasone in scleromyxedema: report of 2 additional cases. (16198811)
2005
21
Successful treatment of scleromyxedema with autologous peripheral blood stem cell transplantation. (16230566)
2005
22
Thalidomide as a potential treatment for scleromyxedema. (15023770)
2004
23
Treatment of recalcitrant scleromyxedema with thalidomide in 3 patients. (15243538)
2004
24
Scleromyxedema in a patient with multiple sclerosis and monoclonal gammopathy on interferon beta-1a. (14760958)
2004
25
A complete and durable clinical response to high-dose dexamethasone in a patient with scleromyxedema. (15280830)
2004
26
Successful treatment of intractable scleromyxedema with cyclosporin A. (14657639)
2003
27
Heparan sulphate proteoglycan in scleromyxedema promotes FGF-2 activity. (12498227)
2002
28
Scleromyxedema-like fibromucinosis in a patient undergoing hemodialysis. (12100695)
2002
29
Scleromyxedema: possible association with seminoma. (10767692)
2000
30
Scleromyxedema. (10426928)
1999
31
Fever, convulsions and coma in scleromyxedema: a "dermato-neuro syndrome". (8649597)
1996
32
Scleromyxedema with myopathy and hyperthyroidism. (8823713)
1996
33
Scleromyxedema. (7601944)
1995
34
Extracorporeal photochemotherapy: a potentially useful treatment for scleromyxedema. (1791229)
1991
35
Scleromyxedema: case for therapeutic suggestion. (2340934)
1990
36
Stimulation of fibroblasts by paraprotein in scleromyxedema. (2808811)
1989
37
Scleromyxedema associated with non-Hodgkin lymphoma. (2592130)
1989
38
Scleromyxedema: therapeutic response to isotretinoin in three patients. (3170809)
1988
39
Plasmapheresis in a patient with scleromyxedema. (3107482)
1987
40
Scleromyxedema with systemic involvement mimics rheumatic diseases. (2943292)
1986
41
Scleromyxedema and inflammatory myopathy: a clinicopathologic study of three patients. (3465308)
1986
42
Treatment of scleromyxedema with etretinate. (6715602)
1984
43
Major surgery and scleromyxedema. (6230537)
1984
44
Scleromyxedema associated with IgG lambda multiple myeloma. (6416712)
1983
45
Scleromyxedema - a sclerodermoid disorder. (7288775)
1981
46
Pathology quiz case 3. Lichen myxedematosus (scleromyxedema). (7259228)
1981
47
Scleromyxedema --report of a case with hyperpolygammopathy and immunoglobulin and complement deposition in cutaneous lesions--. (6997351)
1980
48
Scleromyxedema myopathy. Histochemical and electron microscopic observations. (645644)
1978
49
Scleromyxedema. (813582)
1976
50
Scleromyxedema. (5761799)
1969

Variations for Scleromyxedema

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Expression for genes affiliated with Scleromyxedema

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Expression patterns in normal tissues for genes affiliated with Scleromyxedema

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Pathways for genes affiliated with Scleromyxedema

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Compounds for genes affiliated with Scleromyxedema

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Compounds related to Scleromyxedema according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1s 100449.7ACTC1, F13A1
2reticulin449.7F13A1, ACTC1
3b 723449.7ACTC1, F13A1
4hematoxylin449.6F13A1, ACTC1
5procollagen449.6ACTC1, F13A1
6urea44 24 1111.6F13A1, PIK3C2A
7diazepam44 28 50 1112.5PIK3C2A, FGF2
8warfarin44 50 24 1112.4FGF2, PIK3C2A
9glycogen44 2410.4ACTC1, PIK3C2A
10glycosaminoglycan449.4FGF2, ACTC1
11heparinoids449.4FGF2, F13A1
12prednisolone44 28 1111.4PIK3C2A, FGF2
13citrate449.4FGF2, PIK3C2A
14thyroxine44 2410.3FGF2, PIK3C2A
15isoproterenol44 1110.3PIK3C2A, FGF2
16prostacyclin449.3FGF2, PIK3C2A
17matrigel449.2FGF2, ACTC1
18fibrinogen449.2F13A1, PIK3C2A
19ascorbic acid44 2410.2FGF2, PIK3C2A
20iron44 2410.2PIK3C2A, F13A1, ACTC1
21progesterone44 28 61 24 1113.1ACTC1, F13A1, PIK3C2A
22cyclosporin a44 28 6111.0FGF2, ACTC1, PIK3C2A
23paraffin448.9FGF2, ACTC1, F13A1
24heparin44 28 24 1111.8FGF2, F13A1, PIK3C2A
25ly294002448.8FGF2, PIK3C2A
26estrogen448.8FGF2, ACTC1, F13A1
27tyrosine448.6PIK3C2A, ACTC1, FGF2
28vegf448.4FGF2, ACTC1, F13A1, PIK3C2A

GO Terms for genes affiliated with Scleromyxedema

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Cellular components related to Scleromyxedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.3ACTC1, F13A1

Biological processes related to Scleromyxedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol biosynthetic processGO:0066619.1FGF2, PIK3C2A
2epidermal growth factor receptor signaling pathwayGO:0071739.1FGF2, PIK3C2A
3phosphatidylinositol-mediated signalingGO:0480159.0FGF2, PIK3C2A
4insulin receptor signaling pathwayGO:0082868.8FGF2, PIK3C2A

Products for genes affiliated with Scleromyxedema

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Sources for Scleromyxedema

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet