MCID: ESN015
MIFTS: 51

Eosinophilic Fasciitis malady

Categories: Rare diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Eosinophilic Fasciitis

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 45 47 51 65
Shulman Syndrome 45 51
Diffuse Fasciitis with Eosinophilia 51
 
Eosinophilic Synovitis 65
Ef 45

Characteristics:

Orphanet epidemiological data:

51
eosinophilic fasciitis:
Age of onset: Adult; Age of death: normal life expectancy


Classifications:



External Ids:

Orphanet51 3165
ICD10 via Orphanet28 M35.4
UMLS via Orphanet66 C0264005
ICD1027 M35.4
UMLS65 C0264005, C2936881

Summaries for Eosinophilic Fasciitis

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NIH Rare Diseases:45 Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. rapid swelling can occur in the hands, arms, legs, and feet. people with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. the exact cause of this condition is unknown. corticosteroids and other immune-suppressing medications are used to relieve the symptoms. eosinophilic fasciitis is similar in appearance to scleroderma but is not related. last updated: 11/12/2015

MalaCards based summary: Eosinophilic Fasciitis, also known as shulman syndrome, is related to fasciitis and fetal erythroblastosis, and has symptoms including muscular edema, cellulitis and myalgia. An important gene associated with Eosinophilic Fasciitis is AHR (Aryl Hydrocarbon Receptor), and among its related pathways are Glucocorticoid receptor regulatory network and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, breast and lung, and related mouse phenotypes are liver/biliary system and tumorigenesis.

Wikipedia:68 Eosinophilic fasciitis (/ˌiːəˌsɪnəˈfɪlɪk ˌfæʃiˈaɪtᵻs, ˌiːoʊ-, -ˌfæsi-/), also known... more...

Related Diseases for Eosinophilic Fasciitis

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Graphical network of the top 20 diseases related to Eosinophilic Fasciitis:



Diseases related to eosinophilic fasciitis

Symptoms for Eosinophilic Fasciitis

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Symptoms:

 51 (show all 18)
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • macules
  • cutaneous edema
  • dermal/subcutaneous infiltration/induration
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • myalgia/muscular pain
  • muscular edema
  • eosinophils anomalies/hypereosinophilia
  • asthenia/fatigue/weakness
  • muscular sclerosis
  • articular/joint pain/arthralgia
  • arthritis/synovitis/synovial proliferation
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • fasciitis
  • myositis
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Eosinophilic Fasciitis:

(show all 11)
id Description Frequency HPO Source Accession
1 muscular edema hallmark (90%) HP:0100748
2 cellulitis hallmark (90%) HP:0100658
3 myalgia hallmark (90%) HP:0003326
4 acrocyanosis hallmark (90%) HP:0001063
5 hypermelanotic macule hallmark (90%) HP:0001034
6 arthralgia typical (50%) HP:0002829
7 arthritis typical (50%) HP:0001369
8 myositis occasional (7.5%) HP:0100614
9 paresthesia occasional (7.5%) HP:0003401
10 weight loss occasional (7.5%) HP:0001824
11 eosinophilic fasciitis HP:0045029

Drugs & Therapeutics for Eosinophilic Fasciitis

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Drugs for Eosinophilic Fasciitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2Immunologic FactorsPhase 218483
3Antirheumatic AgentsPhase 28496
4
Methotrexateapproved14441959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
Methopterin
Methotextrate
 
Methotrate
Methotrexat
Methotrexate
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metoject
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Otrexup
Rasuvo
Rheumatrex
Rheumatrex Dose Pack
Trexall
5
Folic Acidapproved, nutraceutical292459-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
6Immunosuppressive Agents10422
7Antimetabolites9454
8Nucleic Acid Synthesis Inhibitors3836
9Dermatologic Agents4555
10Folic Acid Antagonists1643
11Vitamin B Complex2847
12Antimetabolites, Antineoplastic5770
13Vitamin B9Nutraceutical2924
14Folinic AcidNutraceutical2604
15FolateNutraceutical2924

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic PurpuraWithdrawnNCT01754545Phase 4
2A Protocol Based Treatment for Debilitating Fibrosing Skin Disorders With (Anti-CD 20), Rituximab, Evaluating Safety and EfficacyActive, not recruitingNCT00936546Phase 2
3Treatment With High Dose Methotrexate in Patients With Eosinophilic FasciitisCompletedNCT00441961
4ADAMTS13 in Thrombotic Thrombocytopenic PurpuraCompletedNCT00426686
5Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)RecruitingNCT01257269

Search NIH Clinical Center for Eosinophilic Fasciitis

Genetic Tests for Eosinophilic Fasciitis

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Anatomical Context for Eosinophilic Fasciitis

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MalaCards organs/tissues related to Eosinophilic Fasciitis:

33
Skin, Breast, Lung, Bone, Thyroid, Liver, Kidney

Animal Models for Eosinophilic Fasciitis or affiliated genes

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MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7AHR, IFNG, IL5
2MP:00020068.6AHR, IFNG, IL5
3MP:00053818.5AHR, IFNG, IL5
4MP:00053898.4AHR, IFNG, IL5
5MP:00053888.2AHR, IFNG, IL5

Publications for Eosinophilic Fasciitis

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Articles related to Eosinophilic Fasciitis:

(show top 50)    (show all 360)
idTitleAuthorsYear
1
Paraneoplastic eosinophilic fasciitis with generalized morphea and vitiligo in a patient working with organic solvents. (26507670)
2015
2
Eosinophilic fasciitis]. (25897110)
2015
3
Association of eosinophilic fasciitis with morphea. (25434081)
2014
4
Orthopedic considerations with eosinophilic fasciitis: a case report and literature review. (23227395)
2012
5
Unusual skin involvement in eosinophilic fasciitis. (21070330)
2011
6
AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome? (19941898)
2010
7
Eosinophilic fasciitis in a duathlete. (19451771)
2009
8
Physical burden of symptoms in patients with localized scleroderma and eosinophilic fasciitis. (18936410)
2008
9
Eosinophilic fasciitis successfully treated with cyclosporine. (15864687)
2005
10
Cytokine abnormalities in a patient with eosinophilic fasciitis. (12722970)
2003
11
Elevated serum levels of manganese superoxide dismutase in patients with eosinophilic fasciitis. (14677046)
2003
12
Extracorporeal photochemotherapy in the treatment of eosinophilic fasciitis. (12602960)
2003
13
Eosinophilic fasciitis with multiple myeloma: a new haematological association. (12429547)
2002
14
Analysis of leukemia inhibitory factor, type 1 and type 2 cytokine production in patients with eosinophilic fasciitis. (11196547)
2001
15
Eosinophilic fasciitis presenting as pitting edema of the extremities. (11566463)
2001
16
Eosinophilic fasciitis--progression to linear scleroderma: a case report. (10770102)
1999
17
Lymph-node-based malignant lymphoma and reactive lymphadenopathy in eosinophilic fasciitis. (10555099)
1999
18
Possible association between eosinophilic fasciitis and subcutaneous heparin use. (9489839)
1998
19
Eosinophilic fasciitis with myelodysplasia responsive to treatment with cyclosporin. (9068764)
1997
20
Serum and synovial fluid levels of interleukin-5 in a patient with eosinophilic fasciitis. (9014593)
1996
21
Systemic lupus erythematosus and eosinophilic fasciitis: an unusual association. (8549105)
1995
22
Association of eosinophilic fasciitis, multiple morphea and antiphospholipid antibody. (7949491)
1994
23
Familial eosinophilic fasciitis and breast cancer. (8162468)
1994
24
Eosinophilic fasciitis in children frequently progresses to scleroderma-like cutaneous fibrosis. (8441144)
1993
25
Comparison of the pathology of fascia in eosinophilic myalgia syndrome patients and idiopathic eosinophilic fasciitis. (8435512)
1993
26
Childhood eosinophilic fasciitis presenting as inflammatory polyarthritis and associated with selective IgA deficiency. (1929589)
1991
27
Eosinophilic fasciitis associated with use of L-tryptophan: a case-control study and comparison of clinical and histopathologic features. (1921498)
1991
28
Eosinophilic fasciitis. Increased collagen production and type I procollagen messenger RNA levels in fibroblasts cultured from involved skin. (2334180)
1990
29
Capillary microscopy during eosinophilic fasciitis in 15 patients: distinction from systemic scleroderma. (2346160)
1990
30
Conjunctival chemosis in eosinophilic fasciitis. (2606225)
1989
31
Eosinophilic fasciitis in children. (2690343)
1989
32
Overlap syndromes, mixed connective tissue disease, and eosinophilic fasciitis. (2702056)
1989
33
Rheumatoid arthritis with eosinophilic fasciitis and pure red cell aplasia. (2509696)
1989
34
Eosinophilic fasciitis: clinical spectrum and therapeutic response in 52 cases. (3232080)
1988
35
Frequency, levels, and significance of blood eosinophilia in systemic sclerosis, localized scleroderma, and eosinophilic fasciitis. (3668010)
1987
36
Eosinophilic fasciitis presenting as inflammatory polyarthritis. (3748691)
1986
37
Eosinophilic fasciitis in a two-year-old child. (4026891)
1985
38
Eosinophilic fasciitis in an African--possible benefit of chloroquine treatment. (6494091)
1984
39
Eosinophilic fasciitis--a case with hypogammaglobulinaemia. (6744652)
1984
40
Cimetidine and eosinophilic fasciitis. (6859693)
1983
41
Eosinophilic fasciitis: new associations and current perspectives. (7218260)
1981
42
Polymyositis in eosinophilic fasciitis. Review and case report. (7389757)
1980
43
A new case of eosinophilic fasciitis. (7398999)
1980
44
The eosinophilic fasciitis syndrome after phenytoin (dilantin) therapy. (7441663)
1980
45
Cutaneous sclerosis in eosinophilic fasciitis. (510651)
1979
46
Eosinophilic fasciitis with megakaryocyte aplasia. (552438)
1979
47
Eosinophilic fasciitis. A case report. (441869)
1979
48
Eosinophilic fasciitis. (686723)
1978
49
Eosinophilic fasciitis: a scleroderma-like illness. (576278)
1977
50
Proceedings: Eosinophilic fasciitis. Report of six cases of a newly recognized scleroderma-like syndrome. (1191357)
1975

Variations for Eosinophilic Fasciitis

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Expression for genes affiliated with Eosinophilic Fasciitis

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Search GEO for disease gene expression data for Eosinophilic Fasciitis.

GO Terms for genes affiliated with Eosinophilic Fasciitis

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Biological processes related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytokine-mediated signaling pathwayGO:00192219.5IFNG, IL5
2positive regulation of cell proliferationGO:00082849.1IFNG, IL5
3immune responseGO:00069558.8IFNG, IL5
4positive regulation of transcription, DNA-templatedGO:00458938.8AHR, IFNG, IL5

Sources for Eosinophilic Fasciitis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet