MCID: ESN015
MIFTS: 52

Eosinophilic Fasciitis

Categories: Rare diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Eosinophilic Fasciitis

MalaCards integrated aliases for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 53 72 49 55 36 51 69
Shulman Syndrome 49 55
Diffuse Fasciitis with Eosinophilia 55
Eosinophilic Synovitis 69
Ef 49

Characteristics:

Orphanet epidemiological data:

55
eosinophilic fasciitis
Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
eosinophilic fasciitis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Eosinophilic Fasciitis

NIH Rare Diseases : 49 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 eosinophilia-myalgia syndrome and cutaneous leishmaniasis, 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 : 72 Eosinophilic fasciitis (/ˌiːəˌsɪnəˈfɪlɪk ˌfæʃiˈaɪtɪs, ˌiːoʊ-, -ˌfæsi-/), also known as \"Shulman\'s... 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 166)
# Related Disease Score Top Affiliating Genes
1 eosinophilia-myalgia syndrome 30.1 IFNG IL5
2 cutaneous leishmaniasis 29.6 IFNG IL5
3 toxic oil syndrome 29.0 AHR IFNG IL5
4 endocardial fibroelastosis 11.5
5 fasciitis 11.0
6 fetal erythroblastosis 10.9
7 barth syndrome 10.9
8 hydrocephalus, endocardial fibroelastosis, and cataracts 10.9
9 peripartum cardiomyopathy 10.9
10 eosinophilic pustular folliculitis 10.9
11 lymphoma 10.2
12 neuronitis 10.1
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
14 arthritis 10.1
15 scleroderma, familial progressive 10.1
16 thyroiditis 10.1
17 hydrops, lactic acidosis, and sideroblastic anemia 10.0
18 linear scleroderma 10.0
19 colorectal adenoma 10.0
20 chronic interstitial cystitis 10.0
21 endometriosis 10.0
22 polycystic kidney disease 10.0
23 systemic lupus erythematosus 10.0
24 myositis 10.0
25 aplastic anemia 10.0
26 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
27 localized scleroderma 10.0
28 lupus erythematosus 10.0
29 carpal tunnel syndrome 9.9
30 mononeuropathy of the median nerve, mild 9.9
31 graft-versus-host disease 9.9
32 cutaneous t cell lymphoma 9.9
33 colitis 9.9
34 hypothyroidism 9.9
35 connective tissue disease 9.9
36 vasculitis 9.9
37 scleredema 9.9
38 paraneoplastic syndromes 9.9
39 atopic keratoconjunctivitis 9.9 IFNG IL5
40 strongyloidiasis 9.9 IFNG IL5
41 ascaris lumbricoides infection 9.9 IFNG IL5
42 urinary schistosomiasis 9.9 IFNG IL5
43 folliculitis 9.9 IFNG IL5
44 multicentric castleman disease 9.9 IFNG IL5
45 peanut allergy 9.9 AHR IFNG
46 paranasal sinus disease 9.9 IFNG IL5
47 allergic conjunctivitis 9.9 IFNG IL5
48 paracoccidioidomycosis 9.9 IFNG IL5
49 echinococcosis 9.9 IFNG IL5
50 conjunctivitis 9.9 IFNG IL5

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



Diseases related to Eosinophilic Fasciitis

Symptoms & Phenotypes for Eosinophilic Fasciitis

Symptoms via clinical synopsis from OMIM:

53
Muscle:
eosinophilic fasciitis


Clinical features from OMIM:

226350

Human phenotypes related to Eosinophilic Fasciitis:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
2 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 myalgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003326
4 macule 55 31 hallmark (90%) Very frequent (99-80%) HP:0012733
5 arthritis 55 31 frequent (33%) Frequent (79-30%) HP:0001369
6 subcutaneous nodule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001482
7 acrocyanosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001063
8 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
9 paresthesia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003401
10 cellulitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100658
11 myositis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100614
12 eosinophilia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001880
13 fasciitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100537
14 muscular edema 55 31 hallmark (90%) Very frequent (99-80%) HP:0100748
15 edema 55 Very frequent (99-80%)
16 abnormality of eosinophils 55 Very frequent (99-80%)
17 eosinophilic fasciitis 31 HP:0045029

MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.13 AHR IFNG IL5
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)
# 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
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
5
leucovorin Approved, Nutraceutical 58-05-9 143 6006
6 Antimetabolites
7 Antimetabolites, Antineoplastic
8 Dermatologic Agents
9 Folic Acid Antagonists
10 Immunosuppressive Agents
11 Nucleic Acid Synthesis Inhibitors
12 Vitamin B Complex
13 Folate Nutraceutical
14 Vitamin B9 Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic Purpura Withdrawn NCT01754545 Phase 4 Octaplas infusion and placebo (group 1);Octaplas infusion and placebo (group 2)
2 A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13) Active, not recruiting NCT03393975 Phase 3
3 A Protocol Based Treatment for Debilitating Fibrosing Skin Disorders With (Anti-CD 20), Rituximab, Evaluating Safety and Efficacy Unknown status NCT00936546 Phase 2 Rituximab
4 Treatment With High Dose Methotrexate in Patients With Eosinophilic Fasciitis Completed NCT00441961 methotrexate
5 ADAMTS13 in Thrombotic Thrombocytopenic Purpura Completed NCT00426686
6 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
7 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:

38
Skin, Bone, Thyroid, T Cells, Bone Marrow, Neutrophil, B Cells

Publications for Eosinophilic Fasciitis

Articles related to Eosinophilic Fasciitis:

(show top 50) (show all 389)
# Title Authors Year
1
Eosinophilic fasciitis associated with Raynaud's phenomenon, esophageal dysmotility, positive antinuclear antibody and anti-neutrophil cytoplasmic antibody. ( 29393078 )
2018
2
Eosinophilic Fasciitis: A Single Center Experience of Seven Patients. ( 29431303 )
2018
3
Eosinophilic fasciitis during pregnancy: case report and review of literature. ( 29247348 )
2018
4
Rituximab as a therapeutic consideration for refractory eosinophilic fasciitis. ( 29446454 )
2018
5
Groove Sign of Eosinophilic Fasciitis. ( 28277348 )
2017
6
Eosinophilic Fasciitis: A Firm Warning. ( 28528611 )
2017
7
Th1- and Th17-polarized immune infiltrates in eosinophilic fasciitis-A potential marker for histopathologic distinction from morphea. ( 28393380 )
2017
8
Clinicopathologic and immunophenotypic features of eosinophilic fasciitis and morphea profunda: A comparative study of 27 cases. ( 28865864 )
2017
9
[<sup>18</sup>F] FDG PET/CT may be a useful adjunct in diagnosis of eosinophilic fasciitis. ( 29074338 )
2017
10
Long-term outcome of eosinophilic fasciitis: A cross-sectional evaluation of 35 patients. ( 28734566 )
2017
11
Morphea and Eosinophilic Fasciitis: An Update. ( 28303481 )
2017
12
Guideline for diagnostic criteria, severity classification and treatment of eosinophilic fasciitis. ( 29235676 )
2017
13
A case of eosinophilic fasciitis associated with pyoderma gangrenosum. ( 28150344 )
2017
14
Diagnostic utility of Magnetic Ressonance Imaging in Eosinophilic Fasciitis. ( 28379209 )
2017
15
Positive prayer sign in eosinophilic fasciitis. ( 28934835 )
2017
16
Morphoea profunda and its relationship to eosinophilic fasciitis. ( 29277925 )
2017
17
Eosinophilic Fasciitis: an Updated Review on Diagnosis and Treatment. ( 29101481 )
2017
18
Efficacy of eculizumab against Eosinophilic Fasciitis associated with Paroxysmal Nocturnal Haemoglobinuria. ( 27401544 )
2016
19
Eosinophilic fasciitis. ( 28300895 )
2016
20
Eosinophilic Fasciitis Illustrated by [(18)F] FDG-PET/CT. ( 27523020 )
2016
21
High-Dose Intravenous Pulse Methotrexate in Patients With Eosinophilic Fasciitis. ( 27541801 )
2016
22
Eosinophilic Fasciitis and Acute Encephalopathy Toxicity from Pembrolizumab Treatment of a Patient with Metastatic Melanoma. ( 26822024 )
2016
23
Juvenile eosinophilic fasciitis: three case reports with review of the literature. ( 27268780 )
2016
24
A rare case of unilateral eosinophilic fasciitis associated with ipsilateral extragenital lichen sclerosus. ( 27730034 )
2016
25
Successful treatment of aplastic anemia-paroxysmal nocturnal hemoglobinuria associated with eosinophilic fasciitis with matched unrelated donor allogeneic peripheral blood stem cell transplantation. ( 27525080 )
2016
26
Eosinophilic fasciitis after parasite infection. ( 27407276 )
2016
27
Progressive Contractures due to Eosinophilic Fasciitis in a 17 year old Male. ( 27685493 )
2016
28
Carbidopa-induced eosinophilic fasciitis: A review. ( 26755008 )
2016
29
Treatment of Eosinophilic Fasciitis With Sirolimus. ( 26934036 )
2016
30
A literature review of eosinophilic fasciitis with an illustrated case. ( 27839505 )
2016
31
Atypical presentations of eosinophilic fasciitis. ( 26728810 )
2016
32
Eosinophilic fasciitis with severe joint contracture in a patient with bladder cancer and B-cell lymphoma. ( 26671657 )
2016
33
Eosinophilic fasciitis with subjacent myositis. ( 27875630 )
2016
34
A case of refractory eosinophilic fasciitis with eosinophilic vasculitis. ( 27033137 )
2016
35
Development of Eosinophilic Fasciitis during Infliximab Therapy for Psoriatic Arthritis. ( 27293946 )
2016
36
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
37
Eosinophilic fasciitis: clinical characteristics and response to methotrexate. ( 25530187 )
2015
38
Atypical Presentation of Eosinophilic Fasciitis with Pitting Edema. ( 26793415 )
2015
39
Eosinophilic fasciitis: Typical abnormalities, variants and differential diagnosis of fasciae abnormalities using MR imaging. ( 25746223 )
2015
40
What is your diagnosis? The diagnosis: Eosinophilic fasciitis. ( 26244355 )
2015
41
Facial lesions heralding the onset and relapse of eosinophilic fasciitis. ( 26344940 )
2015
42
Efficacy of Tocilizumab in the treatment of Eosinophilic fasciitis: Report of one case. ( 26162635 )
2015
43
Forearm compartment syndrome as a result of eosinophilic fasciitis: case report. ( 25747740 )
2015
44
Ultrasound is a useful adjunct in diagnosis of eosinophilic fasciitis. ( 26316576 )
2015
45
Eosinophilic fasciitis associated with myositis. ( 26034478 )
2015
46
Chronic graft-versus-host disease presenting as eosinophilic fasciitis: therapeutic challenges and an additional case. ( 25710860 )
2015
47
Paraneoplastic eosinophilic fasciitis with generalized morphea and vitiligo in a patient working with organic solvents. ( 26507670 )
2015
48
Atypical presentations of eosinophilic fasciitis. ( 26658389 )
2015
49
Finger stiffness or edema as presenting symptoms of eosinophilic fasciitis. ( 26248532 )
2015
50
Epidemiology and Treatment of Eosinophilic Fasciitis: An Analysis of 63 Patients From 3 Tertiary Care Centers. ( 26559760 )
2015

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 AHR IFNG IL5
2
Show member pathways
11.92 IFNG IL5
3
Show member pathways
11.73 IFNG IL5
4 11.57 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 11.07 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:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.13 BMP6 IFNG IL5
2 regulation of receptor activity GO:0010469 8.8 BMP6 IFNG IL5

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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