EF
MCID: ESN015
MIFTS: 47

Eosinophilic Fasciitis (EF) malady

Categories: Rare diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Eosinophilic Fasciitis

Aliases & Descriptions for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 54 50 56 52 69
Shulman Syndrome 50 56
Diffuse Fasciitis with Eosinophilia 56
Eosinophilic Synovitis 69
Ef 50

Characteristics:

Orphanet epidemiological data:

56
eosinophilic fasciitis
Age of onset: Adult; Age of death: normal life expectancy;

HPO:

32
eosinophilic fasciitis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 226350
Orphanet 56 ORPHA3165
UMLS via Orphanet 70 C0264005
ICD10 via Orphanet 34 M35.4
ICD10 33 M35.4

Summaries for Eosinophilic Fasciitis

NIH Rare Diseases : 50 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 arthralgia, fatigue and myalgia. An important gene associated with Eosinophilic Fasciitis is AHR (Aryl Hydrocarbon Receptor), and among its related pathways/superpathways are Th17 cell differentiation and Jak-STAT signaling pathway (KEGG). The drugs rituximab and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related phenotypes are neoplasm and reproductive system

Wikipedia : 71 Eosinophilic fasciitis (/ˌiːəˌsɪnəˈfɪlɪk ˌfæʃiˈaɪtᵻs, ˌiːoʊ-, -ˌfæsi-/), also known... more...

Description from OMIM: 226350

Related Diseases for Eosinophilic Fasciitis

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

(show top 50) (show all 139)
id Related Disease Score Top Affiliating Genes
1 fasciitis 10.9
2 fetal erythroblastosis 10.8
3 barth syndrome 10.8
4 endocardial fibroelastosis 10.8
5 eosinophilic pustular folliculitis 10.8
6 peripartum cardiomyopathy 10.8
7 eosinophilia-myalgia syndrome 10.1
8 lymphoma 10.1
9 orthostatic proteinuria 10.1 AHR BMP6
10 arthritis 10.0
11 neuronitis 10.0
12 cataract, total congenital 10.0 IFNG IL5
13 spastic diplegia 10.0 IFNG IL5
14 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.0 IFNG IL5
15 urethral intrinsic sphincter deficiency 10.0 IFNG IL5
16 hemangioma of spleen 10.0 IFNG IL5
17 acute gonococcal prostatitis 10.0 IFNG IL5
18 myofibroma 10.0 AHR IFNG
19 cutaneous fibrous histiocytoma 10.0 IFNG IL5
20 multiple mitochondrial dysfunctions syndrome 10.0 IFNG IL5
21 abnormal retinal correspondence 10.0 IFNG IL5
22 hydrophthalmos 10.0 IFNG IL5
23 loiasis 10.0 IFNG IL5
24 thyroiditis 10.0
25 disease of mental health 10.0 IFNG IL5
26 autosomal recessive congenital methemoglobinemia 10.0 IFNG IL5
27 mansonelliasis 10.0 IFNG IL5
28 tracheitis 10.0 IFNG IL5
29 balkan nephropathy 10.0 IFNG IL5
30 paratyphoid fever 10.0 IFNG IL5
31 thyroid hyalinizing trabecular adenoma 10.0 IFNG IL5
32 dengue hemorrhagic fever 10.0 IFNG IL5
33 discharging ear 10.0 BMP6 IFNG
34 inflammatory bowel disease 2 10.0 IFNG IL5
35 parasitic protozoa infectious disease 10.0 IFNG IL5
36 multiple carboxylase deficiency 10.0 IFNG IL5
37 red cell phospholipid defect with hemolysis 9.9 BMP6 IFNG
38 uterus interstitial leiomyoma 9.9 IFNG IL5
39 linear scleroderma 9.9
40 pulmonary tuberculosis 9.9 IFNG IL5
41 bare lymphocyte syndrome, type i 9.9 IFNG IL5
42 scleral disease 9.9 IFNG IL5
43 lipid storage disease 9.9 IFNG IL5
44 erythematosquamous dermatosis 9.9 IFNG IL5
45 cockayne syndrome, type b 9.9 IFNG IL5
46 acute chest syndrome 9.9 IFNG IL5
47 myositis 9.9
48 systemic lupus erythematosus 9.9
49 localized scleroderma 9.9
50 lupus erythematosus 9.9

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



Diseases related to Eosinophilic Fasciitis

Symptoms & Phenotypes for Eosinophilic Fasciitis

Symptoms by clinical synopsis from OMIM:

226350

Clinical features from OMIM:

226350

Human phenotypes related to Eosinophilic Fasciitis:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 myalgia 56 32 Very frequent (99-80%) HP:0003326
4 macule 56 32 Very frequent (99-80%) HP:0012733
5 arthritis 56 32 Frequent (79-30%) HP:0001369
6 subcutaneous nodule 56 32 Very frequent (99-80%) HP:0001482
7 acrocyanosis 56 32 Very frequent (99-80%) HP:0001063
8 weight loss 56 32 Occasional (29-5%) HP:0001824
9 paresthesia 56 32 Occasional (29-5%) HP:0003401
10 cellulitis 56 32 Very frequent (99-80%) HP:0100658
11 myositis 56 32 Occasional (29-5%) HP:0100614
12 eosinophilia 56 32 Very frequent (99-80%) HP:0001880
13 fasciitis 56 32 Occasional (29-5%) HP:0100537
14 muscular edema 56 32 Very frequent (99-80%) HP:0100748
15 edema 56 Very frequent (99-80%)
16 abnormality of eosinophils 56 Very frequent (99-80%)
17 eosinophilic fasciitis 32 HP:0045029

MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.13 IL5 AHR IFNG
2 reproductive system MP:0005389 8.92 AHR BMP6 IFNG IL5

Drugs & Therapeutics for Eosinophilic Fasciitis

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

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2 Antirheumatic Agents Phase 2
3
Methotrexate Approved 1959-05-2, 59-05-2 126941
4
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
5
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6 Folic Acid Antagonists
7 Nucleic Acid Synthesis Inhibitors
8 Dermatologic Agents
9 Vitamin B Complex
10 Immunosuppressive Agents
11 Antimetabolites
12 Antimetabolites, Antineoplastic
13 Folate Nutraceutical
14 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic Purpura Withdrawn NCT01754545 Phase 4
2 A Protocol Based Treatment for Debilitating Fibrosing Skin Disorders With (Anti-CD 20), Rituximab, Evaluating Safety and Efficacy Unknown status NCT00936546 Phase 2
3 Treatment With High Dose Methotrexate in Patients With Eosinophilic Fasciitis Completed NCT00441961
4 ADAMTS13 in Thrombotic Thrombocytopenic Purpura Completed NCT00426686
5 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
6 Shulman Fasciitis Prevalence Study in Alsace Recruiting NCT02829112

Search NIH Clinical Center for Eosinophilic Fasciitis

Genetic Tests for Eosinophilic Fasciitis

Anatomical Context for Eosinophilic Fasciitis

MalaCards organs/tissues related to Eosinophilic Fasciitis:

39
Skin, Bone, Thyroid, T Cells, Bone Marrow, Neutrophil, B Cells

Publications for Eosinophilic Fasciitis

Articles related to Eosinophilic Fasciitis:

(show top 50) (show all 371)
id Title Authors Year
1
A case of refractory eosinophilic fasciitis with eosinophilic vasculitis. ( 27033137 )
2016
2
Carbidopa-induced eosinophilic fasciitis: A review. ( 26755008 )
2016
3
A literature review of eosinophilic fasciitis with an illustrated case. ( 27839505 )
2016
4
Eosinophilic fasciitis after parasite infection. ( 27407276 )
2016
5
A rare case of unilateral eosinophilic fasciitis associated with ipsilateral extragenital lichen sclerosus. ( 27730034 )
2016
6
Eosinophilic fasciitis with subjacent myositis. ( 27875630 )
2016
7
Atypical presentations of eosinophilic fasciitis. ( 26728810 )
2016
8
High-Dose Intravenous Pulse Methotrexate in Patients With Eosinophilic Fasciitis. ( 27541801 )
2016
9
Progressive Contractures due to Eosinophilic Fasciitis in a 17 year old Male. ( 27685493 )
2016
10
Treatment of Eosinophilic Fasciitis With Sirolimus. ( 26934036 )
2016
11
Eosinophilic fasciitis with severe joint contracture in a patient with bladder cancer and B-cell lymphoma. ( 26671657 )
2016
12
Eosinophilic Fasciitis and Acute Encephalopathy Toxicity from Pembrolizumab Treatment of a Patient with Metastatic Melanoma. ( 26822024 )
2016
13
Juvenile eosinophilic fasciitis: three case reports with review of the literature. ( 27268780 )
2016
14
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
15
Eosinophilic Fasciitis Illustrated by [(18)F] FDG-PET/CT. ( 27523020 )
2016
16
Successful treatment of aplastic anemia-paroxysmal nocturnal hemoglobinuria associated with eosinophilic fasciitis with matched unrelated donor allogeneic peripheral blood stem cell transplantation. ( 27525080 )
2016
17
Development of Eosinophilic Fasciitis during Infliximab Therapy for Psoriatic Arthritis. ( 27293946 )
2016
18
Efficacy of eculizumab against Eosinophilic Fasciitis associated with Paroxysmal Nocturnal Haemoglobinuria. ( 27401544 )
2016
19
Eosinophilic fasciitis: Typical abnormalities, variants and differential diagnosis of fasciae abnormalities using MR imaging. ( 25746223 )
2015
20
Facial lesions heralding the onset and relapse of eosinophilic fasciitis. ( 26344940 )
2015
21
Atypical presentations of eosinophilic fasciitis. ( 26658389 )
2015
22
What is your diagnosis? The diagnosis: Eosinophilic fasciitis. ( 26244355 )
2015
23
Atypical Presentation of Eosinophilic Fasciitis with Pitting Edema. ( 26793415 )
2015
24
Epidemiology and Treatment of Eosinophilic Fasciitis: An Analysis of 63 Patients From 3 Tertiary Care Centers. ( 26559760 )
2015
25
Eosinophilic fasciitis associated with myositis. ( 26034478 )
2015
26
Paraneoplastic eosinophilic fasciitis with generalized morphea and vitiligo in a patient working with organic solvents. ( 26507670 )
2015
27
Finger stiffness or edema as presenting symptoms of eosinophilic fasciitis. ( 26248532 )
2015
28
Severe eosinophilic fasciitis: comparison of treatment with d-penicillamine plus corticosteroids vs. corticosteroids alone. ( 26525956 )
2015
29
[Eosinophilic fasciitis]. ( 25897110 )
2015
30
Efficacy of Tocilizumab in the treatment of Eosinophilic fasciitis: Report of one case. ( 26162635 )
2015
31
Chronic graft-versus-host disease presenting as eosinophilic fasciitis: therapeutic challenges and an additional case. ( 25710860 )
2015
32
Eosinophilic fasciitis: clinical characteristics and response to methotrexate. ( 25530187 )
2015
33
Forearm compartment syndrome as a result of eosinophilic fasciitis: case report. ( 25747740 )
2015
34
Ultrasound is a useful adjunct in diagnosis of eosinophilic fasciitis. ( 26316576 )
2015
35
Eosinophilic fasciitis-like disorder developing in the setting of multiple sclerosis therapy. ( 25226017 )
2014
36
Eosinophilic Fasciitis Occurring under Treatment with Natalizumab for Multiple Sclerosis. ( 24377479 )
2014
37
Bosentan and Extracorporeal Photochemotherapy in Eosinophilic Fasciitis: Synergistic Action or Fortuitous Coincidence? ( 24743749 )
2014
38
Fluorodeoxyglucose positron emission tomography in eosinophilic fasciitis. ( 25241336 )
2014
39
The use of an elevated aldolase in diagnosing and managing eosinophilic fasciitis. ( 25245261 )
2014
40
Association of eosinophilic fasciitis with morphea. ( 25507679 )
2014
41
Eosinophilic fasciitis/generalized morphea overlap successfully treated with azathioprine. ( 24697582 )
2014
42
Diagnosis and classification of eosinophilic fasciitis. ( 24424187 )
2014
43
Serum levels of matrix metalloproteinase-13 in patients with eosinophilic fasciitis. ( 25041217 )
2014
44
Delayed Diagnosis of Eosinophilic Fasciitis: A case report and review of the literature. ( 24879925 )
2014
45
A case of eosinophilic fasciitis presenting as pitting edema of the lower extremities. ( 24587957 )
2014
46
Eosinophilic fasciitis as a paraneoplastic syndrome, a case report and review of the literature. ( 24525268 )
2014
47
Association of eosinophilic fasciitis with morphea. ( 25434081 )
2014
48
Groove sign in eosinophilic fasciitis. ( 25043386 )
2014
49
Pansclerotic Morphea with Features of Eosinophilic Fasciitis: Distinct Entities or Part of a Continuum? ( 24383741 )
2014
50
Ultrasound assessment of subcutaneous compressibility: a potential adjunctive diagnostic tool in eosinophilic fasciitis. ( 24048117 )
2013

Variations for Eosinophilic Fasciitis

Expression for Eosinophilic Fasciitis

Search GEO for disease gene expression data for Eosinophilic Fasciitis.

Pathways for Eosinophilic Fasciitis

Pathways related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 AHR IFNG IL5
2
Show member pathways
11.77 IFNG IL5
3
Show member pathways
11.73 IFNG IL5
4 11.58 IFNG IL5
5 11.42 BMP6 IFNG
6 11.39 IFNG IL5
7
Show member pathways
11.34 IFNG IL5
8 11.11 AHR IFNG
9 11.08 IFNG IL5
10 11.03 AHR IFNG IL5
11 10.84 IFNG IL5
12 10.78 BMP6 IL5
13 10.73 IFNG IL5
14 10.57 IFNG IL5
15 10.3 AHR IFNG IL5

GO Terms for Eosinophilic Fasciitis

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.43 AHR BMP6 IFNG
2 positive regulation of neuron differentiation GO:0045666 9.16 BMP6 IFNG
3 positive regulation of transcription, DNA-templated GO:0045893 9.13 AHR IFNG IL5
4 immune response GO:0006955 8.8 BMP6 IFNG IL5

Molecular functions related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.96 BMP6 IL5
2 cytokine activity GO:0005125 8.8 BMP6 IFNG IL5

Sources for Eosinophilic Fasciitis

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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