EF
MCID: ESN015
MIFTS: 53

Eosinophilic Fasciitis (EF)

Categories: Blood diseases, Bone diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Eosinophilic Fasciitis

MalaCards integrated aliases for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 58 77 54 60 38 56 74
Shulman Syndrome 54 60
Diffuse Fasciitis with Eosinophilia 60
Eosinophilic Synovitis 74
Ef 54

Characteristics:

Orphanet epidemiological data:

60
eosinophilic fasciitis
Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
eosinophilic fasciitis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Eosinophilic Fasciitis

NIH Rare Diseases : 54 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.

MalaCards based summary : Eosinophilic Fasciitis, also known as shulman syndrome, is related to cutaneous leishmaniasis and eosinophilia-myalgia syndrome. An important gene associated with Eosinophilic Fasciitis is IFNG (Interferon Gamma), and among its related pathways/superpathways are Th17 cell differentiation and IL-17 Family Signaling Pathways. The drugs rituximab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related phenotypes are fatigue and subcutaneous nodule

Wikipedia : 77 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 208)
# Related Disease Score Top Affiliating Genes
1 cutaneous leishmaniasis 30.1 IFNG IL5
2 eosinophilia-myalgia syndrome 29.9 IL5 IFNG AHR
3 common variable immunodeficiency 29.4 IFNG IL5
4 toxic oil syndrome 29.4 IL5 IFNG AHR
5 endocardial fibroelastosis 11.7
6 fasciitis 11.1
7 fetal erythroblastosis 11.1
8 barth syndrome 11.1
9 hydrocephalus, endocardial fibroelastosis, and cataracts 11.1
10 peripartum cardiomyopathy 11.1
11 eosinophilic pustular folliculitis 11.1
12 polycystic kidney disease 10.6
13 lymphoma 10.3
14 arthritis 10.2
15 scleroderma, familial progressive 10.2
16 aplastic anemia 10.2
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
18 colorectal adenoma 10.2
19 chronic interstitial cystitis 10.2
20 endometriosis 10.2
21 myositis 10.2
22 localized scleroderma 10.2
23 linear scleroderma 10.2
24 epilepsy 10.1
25 systemic lupus erythematosus 10.1
26 lupus erythematosus 10.1
27 cephalosporin allergy 10.1 IFNG IL5
28 nickel allergic contact dermatitis 10.1 IFNG IL5
29 allergic contact dermatitis 10.1 IFNG IL5
30 contact dermatitis 10.1 IFNG IL5
31 dermatitis 10.1 IFNG IL5
32 scleritis 10.1 IFNG IL5
33 atopic keratoconjunctivitis 10.1 IFNG IL5
34 keratoconjunctivitis 10.1 IFNG IL5
35 conjunctivitis 10.1 IFNG IL5
36 strongyloidiasis 10.1 IFNG IL5
37 multicentric castleman disease 10.1 IFNG IL5
38 urinary schistosomiasis 10.1 IFNG IL5
39 schistosomiasis 10.1 IFNG IL5
40 folliculitis 10.1 IFNG IL5
41 stevens-johnson syndrome/toxic epidermal necrolysis 10.1 IFNG IL5
42 paranasal sinus disease 10.1 IFNG IL5
43 allergic conjunctivitis 10.1 IFNG IL5
44 carpal tunnel syndrome 10.1
45 mononeuropathy of the median nerve, mild 10.1
46 graft-versus-host disease 10.1
47 hepatitis 10.1
48 cutaneous t cell lymphoma 10.1
49 colitis 10.1
50 connective tissue disease 10.1

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



Diseases related to Eosinophilic Fasciitis

Symptoms & Phenotypes for Eosinophilic Fasciitis

Human phenotypes related to Eosinophilic Fasciitis:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
2 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
3 acrocyanosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001063
4 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
5 macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0012733
6 cellulitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100658
7 eosinophilia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001880
8 muscular edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0100748
9 arthritis 60 33 frequent (33%) Frequent (79-30%) HP:0001369
10 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
11 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
12 paresthesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003401
13 myositis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100614
14 fasciitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100537
15 edema 60 Very frequent (99-80%)
16 abnormality of eosinophils 60 Very frequent (99-80%)
17 eosinophilic fasciitis 33 HP:0045029

Symptoms via clinical synopsis from OMIM:

58
Muscle:
eosinophilic fasciitis

Clinical features from OMIM:

226350

MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

47
# 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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2 Antineoplastic Agents, Immunological Phase 2
3 Immunologic Factors Phase 2,Not Applicable
4 Antirheumatic Agents Phase 2,Not Applicable
5
leucovorin Approved Not Applicable 58-05-9 6006 143
6
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
7
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
8 Folic Acid Antagonists Not Applicable
9 Dermatologic Agents Not Applicable
10 Folate Not Applicable
11 Vitamin B9 Not Applicable
12 Nucleic Acid Synthesis Inhibitors Not Applicable
13 Antimetabolites, Antineoplastic Not Applicable
14 Vitamin B Complex Not Applicable
15 Antimetabolites Not Applicable
16 Immunosuppressive Agents Not Applicable

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 Shulman Fasciitis Prevalence Study in Alsace Unknown status NCT02829112
5 Treatment With High Dose Methotrexate in Patients With Eosinophilic Fasciitis Completed NCT00441961 Not Applicable methotrexate
6 ADAMTS13 in Thrombotic Thrombocytopenic Purpura Completed NCT00426686
7 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
8 Prospective Psychometric Evaluation Study of a Patient-reported Outcomes (PRO) Instrument for Congenital Thrombotic Thrombocytopenic Purpura (cTTP, Upshaw-Schulman Syndrome [USS], Hereditary Thrombotic Thrombocytopenic Purpura [hTTP] Recruiting NCT03519672

Search NIH Clinical Center for Eosinophilic Fasciitis

Genetic Tests for Eosinophilic Fasciitis

Anatomical Context for Eosinophilic Fasciitis

MalaCards organs/tissues related to Eosinophilic Fasciitis:

42
Skin, Bone, Thyroid, Bone Marrow, T Cells, Neutrophil, Lymph Node

Publications for Eosinophilic Fasciitis

Articles related to Eosinophilic Fasciitis:

(show top 50) (show all 426)
# Title Authors Year
1
An Original Case of an Association of Eosinophilic Fasciitis with Cholangitis Induced by Nivolumab. ( 30579548 )
2019
2
Diagnostic ultrasonography in a child with eosinophilic fasciitis. ( 30168166 )
2019
3
Eosinophilic fasciitis: From pathophysiology to treatment. ( 30910631 )
2019
4
Rituximab as a therapeutic consideration for refractory eosinophilic fasciitis. ( 29446454 )
2018
5
Eosinophilic fasciitis during pregnancy: case report and review of literature. ( 29247348 )
2018
6
Ultrasonographic images of the hand in a case with early eosinophilic fasciitis. ( 29464469 )
2018
7
Eosinophilic fasciitis and lichen sclerosus in a patient treated with nivolumab. ( 29797309 )
2018
8
Generalized morphea/eosinophilic fasciitis overlap after epoxy exposure. ( 29892660 )
2018
9
Neuromuscular ultrasound findings in eosinophilic fasciitis: A case series and literature review. ( 29679393 )
2018
10
Eosinophilic Fasciitis in Association With Hypereosinophilic Syndrome in an HIV-Infected Patient With Severe Multiorgan Involvement. ( 29661739 )
2018
11
Eosinophilic fasciitis associated with Raynaud's phenomenon, esophageal dysmotility, positive antinuclear antibody and anti-neutrophil cytoplasmic antibody. ( 29393078 )
2018
12
Skin ultrasound is a useful tool for evaluating and monitoring eosinophilic fasciitis. ( 29624654 )
2018
13
<i>Helicobacter cinaedi</i> bacteremia mimicking eosinophilic fasciitis in a patient with X-linked agammaglobulinemia. ( 29693060 )
2018
14
Population-based prevalence of eosinophilic fasciitis (Shulman syndrome): a capture-recapture study. ( 29526049 )
2018
15
Eosinophilic Fasciitis: A Single Center Experience of Seven Patients. ( 29431303 )
2018
16
A Histologically Proven Case of Autoimmune Hepatitis with Eosinophilic Fasciitis. ( 30333401 )
2018
17
Treatment of generalized deep morphea and eosinophilic fasciitis with the Janus kinase inhibitor tofacitinib. ( 29984277 )
2018
18
Eosinophilic fasciitis: Current concepts. ( 30047432 )
2018
19
Eosinophilic fasciitis: a case series with an emphasis on therapy and induction of remission. ( 30302114 )
2018
20
Unusual presentation of eosinophilic fasciitis (EF) with a raised ALT. ( 30580305 )
2018
21
Eosinophilic fasciitis associated with myositis: Report of four cases and review of the literature. ( 30592019 )
2018
22
Groove Sign of Eosinophilic Fasciitis. ( 28277348 )
2017
23
[<sup>18</sup>F] FDG PET/CT may be a useful adjunct in diagnosis of eosinophilic fasciitis. ( 29074338 )
2017
24
Diagnostic utility of Magnetic Ressonance Imaging in Eosinophilic Fasciitis. ( 28379209 )
2017
25
Eosinophilic Fasciitis: an Updated Review on Diagnosis and Treatment. ( 29101481 )
2017
26
Morphea and Eosinophilic Fasciitis: An Update. ( 28303481 )
2017
27
A case of eosinophilic fasciitis associated with pyoderma gangrenosum. ( 28150344 )
2017
28
Th1- and Th17-polarized immune infiltrates in eosinophilic fasciitis-A potential marker for histopathologic distinction from morphea. ( 28393380 )
2017
29
Clinicopathologic and immunophenotypic features of eosinophilic fasciitis and morphea profunda: A comparative study of 27 cases. ( 28865864 )
2017
30
Guideline for diagnostic criteria, severity classification and treatment of eosinophilic fasciitis. ( 29235676 )
2017
31
Morphoea profunda and its relationship to eosinophilic fasciitis. ( 29277925 )
2017
32
Positive prayer sign in eosinophilic fasciitis. ( 28934835 )
2017
33
Long-term outcome of eosinophilic fasciitis: A cross-sectional evaluation of 35 patients. ( 28734566 )
2017
34
Eosinophilic Fasciitis: A Firm Warning. ( 28528611 )
2017
35
Eosinophilic fasciitis. ( 28300895 )
2016
36
Eosinophilic fasciitis with severe joint contracture in a patient with bladder cancer and B-cell lymphoma. ( 26671657 )
2016
37
Carbidopa-induced eosinophilic fasciitis: A review. ( 26755008 )
2016
38
Progressive Contractures due to Eosinophilic Fasciitis in a 17 year old Male. ( 27685493 )
2016
39
Juvenile eosinophilic fasciitis: three case reports with review of the literature. ( 27268780 )
2016
40
A literature review of eosinophilic fasciitis with an illustrated case. ( 27839505 )
2016
41
A rare case of unilateral eosinophilic fasciitis associated with ipsilateral extragenital lichen sclerosus. ( 27730034 )
2016
42
Eosinophilic fasciitis after parasite infection. ( 27407276 )
2016
43
Eosinophilic Fasciitis Illustrated by [(18)F] FDG-PET/CT. ( 27523020 )
2016
44
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
45
Efficacy of eculizumab against Eosinophilic Fasciitis associated with Paroxysmal Nocturnal Haemoglobinuria. ( 27401544 )
2016
46
Eosinophilic Fasciitis and Acute Encephalopathy Toxicity from Pembrolizumab Treatment of a Patient with Metastatic Melanoma. ( 26822024 )
2016
47
High-Dose Intravenous Pulse Methotrexate in Patients With Eosinophilic Fasciitis. ( 27541801 )
2016
48
Development of Eosinophilic Fasciitis during Infliximab Therapy for Psoriatic Arthritis. ( 27293946 )
2016
49
Successful treatment of aplastic anemia-paroxysmal nocturnal hemoglobinuria associated with eosinophilic fasciitis with matched unrelated donor allogeneic peripheral blood stem cell transplantation. ( 27525080 )
2016
50
Treatment of Eosinophilic Fasciitis With Sirolimus. ( 26934036 )
2016

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 AHR IFNG IL5
2
Show member pathways
11.89 IFNG IL5
3
Show member pathways
11.71 BMP6 IFNG IL5
4
Show member pathways
11.62 BMP6 IFNG IL5
5 11.6 IFNG IL5
6 11.48 BMP6 IFNG
7 11.42 IFNG IL5
8
Show member pathways
11.38 IFNG IL5
9 11.16 AHR IFNG
10 11.12 IFNG IL5
11 11.03 AHR IFNG IL5
12 10.92 IFNG IL5
13 10.78 BMP6 IL5
14 10.72 IFNG IL5
15 10.57 IFNG IL5
16 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 positive regulation of cell proliferation GO:0008284 9.33 BMP6 IFNG IL5
2 immune response GO:0006955 9.13 BMP6 IFNG IL5
3 regulation of signaling 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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