EF
MCID: ESN015
MIFTS: 52

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 57 76 53 59 37 55 73
Shulman Syndrome 53 59
Diffuse Fasciitis with Eosinophilia 59
Eosinophilic Synovitis 73
Ef 53

Characteristics:

Orphanet epidemiological data:

59
eosinophilic fasciitis
Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
eosinophilic fasciitis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Eosinophilic Fasciitis

NIH Rare Diseases : 53 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 eosinophilia-myalgia syndrome and cutaneous leishmaniasis. An important gene associated with Eosinophilic Fasciitis is BMP6 (Bone Morphogenetic Protein 6), and among its related pathways/superpathways are Th17 cell differentiation and Immune response IFN alpha/beta signaling pathway. The drugs rituximab and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related phenotypes are arthritis and fatigue

Wikipedia : 76 Eosinophilic fasciitis (/�?iː�?�?sɪn�?�?fɪlɪk �?fæ�?i�?aɪtɪs, �?iːo�?-, -�?fæsi-/), also known as... 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 199)
# Related Disease Score Top Affiliating Genes
1 eosinophilia-myalgia syndrome 30.1 BMP6 IFNG IL5
2 cutaneous leishmaniasis 29.9 IFNG IL5
3 toxic oil syndrome 29.5 AHR IFNG IL5
4 common variable immunodeficiency 29.3 IFNG IL5
5 endocardial fibroelastosis 11.7
6 fasciitis 11.1
7 fetal erythroblastosis 11.1
8 barth syndrome 11.0
9 hydrocephalus, endocardial fibroelastosis, and cataracts 11.0
10 peripartum cardiomyopathy 11.0
11 eosinophilic pustular folliculitis 11.0
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 localized scleroderma 10.2
22 linear scleroderma 10.2
23 epilepsy 10.1
24 systemic lupus erythematosus 10.1
25 myositis 10.1
26 lupus erythematosus 10.1
27 cow milk allergy 10.1 BMP6 IL5
28 carpal tunnel syndrome 10.0
29 mononeuropathy of the median nerve, mild 10.0
30 graft-versus-host disease 10.0
31 hepatitis 10.0
32 cutaneous t cell lymphoma 10.0
33 colitis 10.0
34 connective tissue disease 10.0
35 vasculitis 10.0
36 lichen sclerosus 10.0
37 scleredema 10.0
38 lung cancer susceptibility 3 10.0
39 melioidosis 10.0
40 hepatosplenic t-cell lymphoma 10.0
41 insulin-like growth factor i 10.0
42 epilepsy, idiopathic generalized 10 10.0
43 temporal lobe epilepsy 10.0
44 tricuspid valve insufficiency 10.0
45 autoimmune disease 10.0
46 multiple sclerosis 10.0
47 rheumatoid arthritis 10.0
48 anemia, autoimmune hemolytic 10.0
49 agammaglobulinemia, x-linked 10.0
50 hemolytic anemia 10.0

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:

57
Muscle:
eosinophilic fasciitis


Clinical features from OMIM:

226350

Human phenotypes related to Eosinophilic Fasciitis:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
2 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
4 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
5 acrocyanosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001063
6 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
7 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
8 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
9 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
10 cellulitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100658
11 myositis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100614
12 eosinophilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001880
13 fasciitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100537
14 muscular edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100748
15 edema 59 Very frequent (99-80%)
16 abnormality of eosinophils 59 Very frequent (99-80%)
17 eosinophilic fasciitis 32 HP:0045029

MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

46
# 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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2 Immunologic Factors Phase 2,Not Applicable
3 Antirheumatic Agents Phase 2,Not Applicable
4
Methotrexate Approved Not Applicable 59-05-2, 1959-05-2 126941
5
leucovorin Approved Not Applicable 58-05-9 6006 143
6
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
7 Dermatologic Agents Not Applicable
8 Immunosuppressive Agents Not Applicable
9 Vitamin B9 Not Applicable
10 Vitamin B Complex Not Applicable
11 Folic Acid Antagonists Not Applicable
12 Nucleic Acid Synthesis Inhibitors Not Applicable
13 Antimetabolites, Antineoplastic Not Applicable
14 Folate Not Applicable
15 Antimetabolites 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 Treatment With High Dose Methotrexate in Patients With Eosinophilic Fasciitis Completed NCT00441961 Not Applicable 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 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
8 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:

41
Skin, Bone, Thyroid, Bone Marrow, T Cells, Kidney, Breast

Publications for Eosinophilic Fasciitis

Articles related to Eosinophilic Fasciitis:

(show top 50) (show all 422)
# Title Authors Year
1
Diagnostic ultrasonography in a child with eosinophilic fasciitis. ( 30168166 )
2019
2
Rituximab as a therapeutic consideration for refractory eosinophilic fasciitis. ( 29446454 )
2018
3
Eosinophilic fasciitis during pregnancy: case report and review of literature. ( 29247348 )
2018
4
Ultrasonographic images of the hand in a case with early eosinophilic fasciitis. ( 29464469 )
2018
5
Eosinophilic fasciitis and lichen sclerosus in a patient treated with nivolumab. ( 29797309 )
2018
6
Generalized morphea/eosinophilic fasciitis overlap after epoxy exposure. ( 29892660 )
2018
7
Neuromuscular ultrasound findings in eosinophilic fasciitis: A case series and literature review. ( 29679393 )
2018
8
Eosinophilic Fasciitis in Association With Hypereosinophilic Syndrome in an HIV-Infected Patient With Severe Multiorgan Involvement. ( 29661739 )
2018
9
Eosinophilic fasciitis associated with Raynaud's phenomenon, esophageal dysmotility, positive antinuclear antibody and anti-neutrophil cytoplasmic antibody. ( 29393078 )
2018
10
Skin ultrasound is a useful tool for evaluating and monitoring eosinophilic fasciitis. ( 29624654 )
2018
11
<i>Helicobacter cinaedi</i> bacteremia mimicking eosinophilic fasciitis in a patient with X-linked agammaglobulinemia. ( 29693060 )
2018
12
Population-based prevalence of eosinophilic fasciitis (Shulman syndrome): a capture-recapture study. ( 29526049 )
2018
13
Eosinophilic Fasciitis: A Single Center Experience of Seven Patients. ( 29431303 )
2018
14
A Histologically Proven Case of Autoimmune Hepatitis with Eosinophilic Fasciitis. ( 30333401 )
2018
15
Treatment of generalized deep morphea and eosinophilic fasciitis with the Janus kinase inhibitor tofacitinib. ( 29984277 )
2018
16
Eosinophilic fasciitis: Current concepts. ( 30047432 )
2018
17
Eosinophilic fasciitis: a case series with an emphasis on therapy and induction of remission. ( 30302114 )
2018
18
Groove Sign of Eosinophilic Fasciitis. ( 28277348 )
2017
19
[<sup>18</sup>F] FDG PET/CT may be a useful adjunct in diagnosis of eosinophilic fasciitis. ( 29074338 )
2017
20
Diagnostic utility of Magnetic Ressonance Imaging in Eosinophilic Fasciitis. ( 28379209 )
2017
21
Eosinophilic Fasciitis: an Updated Review on Diagnosis and Treatment. ( 29101481 )
2017
22
Morphea and Eosinophilic Fasciitis: An Update. ( 28303481 )
2017
23
A case of eosinophilic fasciitis associated with pyoderma gangrenosum. ( 28150344 )
2017
24
Th1- and Th17-polarized immune infiltrates in eosinophilic fasciitis-A potential marker for histopathologic distinction from morphea. ( 28393380 )
2017
25
Clinicopathologic and immunophenotypic features of eosinophilic fasciitis and morphea profunda: A comparative study of 27 cases. ( 28865864 )
2017
26
Guideline for diagnostic criteria, severity classification and treatment of eosinophilic fasciitis. ( 29235676 )
2017
27
Morphoea profunda and its relationship to eosinophilic fasciitis. ( 29277925 )
2017
28
Positive prayer sign in eosinophilic fasciitis. ( 28934835 )
2017
29
Long-term outcome of eosinophilic fasciitis: A cross-sectional evaluation of 35 patients. ( 28734566 )
2017
30
Eosinophilic Fasciitis: A Firm Warning. ( 28528611 )
2017
31
Eosinophilic fasciitis. ( 28300895 )
2016
32
Eosinophilic fasciitis with severe joint contracture in a patient with bladder cancer and B-cell lymphoma. ( 26671657 )
2016
33
Carbidopa-induced eosinophilic fasciitis: A review. ( 26755008 )
2016
34
Progressive Contractures due to Eosinophilic Fasciitis in a 17 year old Male. ( 27685493 )
2016
35
Juvenile eosinophilic fasciitis: three case reports with review of the literature. ( 27268780 )
2016
36
A literature review of eosinophilic fasciitis with an illustrated case. ( 27839505 )
2016
37
A rare case of unilateral eosinophilic fasciitis associated with ipsilateral extragenital lichen sclerosus. ( 27730034 )
2016
38
Eosinophilic fasciitis after parasite infection. ( 27407276 )
2016
39
Eosinophilic Fasciitis Illustrated by [(18)F] FDG-PET/CT. ( 27523020 )
2016
40
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
41
Efficacy of eculizumab against Eosinophilic Fasciitis associated with Paroxysmal Nocturnal Haemoglobinuria. ( 27401544 )
2016
42
Eosinophilic Fasciitis and Acute Encephalopathy Toxicity from Pembrolizumab Treatment of a Patient with Metastatic Melanoma. ( 26822024 )
2016
43
High-Dose Intravenous Pulse Methotrexate in Patients With Eosinophilic Fasciitis. ( 27541801 )
2016
44
Development of Eosinophilic Fasciitis during Infliximab Therapy for Psoriatic Arthritis. ( 27293946 )
2016
45
Successful treatment of aplastic anemia-paroxysmal nocturnal hemoglobinuria associated with eosinophilic fasciitis with matched unrelated donor allogeneic peripheral blood stem cell transplantation. ( 27525080 )
2016
46
Treatment of Eosinophilic Fasciitis With Sirolimus. ( 26934036 )
2016
47
Eosinophilic fasciitis with subjacent myositis. ( 27875630 )
2016
48
A case of refractory eosinophilic fasciitis with eosinophilic vasculitis. ( 27033137 )
2016
49
Atypical presentations of eosinophilic fasciitis. ( 26728810 )
2016
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

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....