EF
MCID: ESN015
MIFTS: 47

Eosinophilic Fasciitis (EF)

Categories: Bone diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Eosinophilic Fasciitis

MalaCards integrated aliases for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 57 74 20 58 36 54 71
Shulman Syndrome 20 58
Diffuse Fasciitis with Eosinophilia 58
Eosinophilic Synovitis 71
Ef 20

Characteristics:

Orphanet epidemiological data:

58
eosinophilic fasciitis
Age of onset: Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
eosinophilic fasciitis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


External Ids:

OMIM® 57 226350
KEGG 36 H01693
ICD10 via Orphanet 33 M35.4
UMLS via Orphanet 72 C0264005
Orphanet 58 ORPHA3165
MedGen 41 C0264005
UMLS 71 C0264005 C2936881

Summaries for Eosinophilic Fasciitis

KEGG : 36 Eosinophilic fasciitis (EF) is a systemic inflammatory disease characterized by symmetrical swelling and skin induration of the arms and/or legs, evolving into a scleroderma-like appearance, accompanied by peripheral blood eosinophilia. The disease is present almost equally in both sexes. The etiology of EF remains uncertain. Hematological, infectious, and autoimmune diseases, as well as intense physical exertion, chemical compounds, drugs, solid neoplasms, and physical factors have been proposed as possible triggers and associated factors. Some researchers have proposed an aberrant immune response as the main pathogenetic mechanism. Some EF patients improve spontaneously without treatment, but in those who do not, glucocorticoids are the mainstay therapy. Methotrexate at low doses is probably the most favored second-line treatment, especially in patients with morphea-like skin lesions.

MalaCards based summary : Eosinophilic Fasciitis, also known as shulman syndrome, is related to hypereosinophilic syndrome and toxic oil syndrome. An important gene associated with Eosinophilic Fasciitis is AHR (Aryl Hydrocarbon Receptor), and among its related pathways/superpathways are Th17 cell differentiation and Immune response IFN alpha/beta signaling pathway. The drugs rituximab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone, and related phenotypes are fatigue and acrocyanosis

GARD : 20 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. However, in contrast with systemic sclerosis, internal organ involvement in eosinophilic fasciitis is generally absent. Some researchers believe that eosinophilic fasciitis may be a variant of morphea (localized scleroderma).

Wikipedia : 74 Eosinophilic fasciitis (/ˌiːəˌsɪnəˈfɪlɪk ˌfæʃiˈaɪtɪs, ˌiːoʊ-, -ˌfæsi-/), also known as "Shulman's... more...

More information 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 256)
# Related Disease Score Top Affiliating Genes
1 hypereosinophilic syndrome 31.1 IL5 IFNG
2 toxic oil syndrome 29.8 IL5 IFNG AHR
3 mycosis fungoides 29.7 IL5 IFNG
4 eosinophilia-myalgia syndrome 29.7 IL5 IFNG BMP6 AHR
5 cutaneous t cell lymphoma 29.6 IL5 IFNG
6 proteasome-associated autoinflammatory syndrome 1 29.6 IL5 IFNG
7 skin disease 29.4 IL5 IFNG BMP6
8 autoimmune disease 29.3 IL5 IFNG BMP6
9 fasciitis 11.2
10 systemic scleroderma 10.9
11 localized scleroderma 10.7
12 scleroderma, familial progressive 10.6
13 connective tissue disease 10.6
14 raynaud phenomenon 10.5
15 myositis 10.5
16 aplastic anemia 10.4
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.4
18 carpal tunnel syndrome 10.4
19 polymyositis 10.3
20 thyroiditis 10.3
21 plica syndrome 10.3
22 synovitis 10.3
23 linear scleroderma 10.3
24 hashimoto thyroiditis 10.2
25 lichen sclerosus et atrophicus 10.2
26 deficiency anemia 10.2
27 dermatomyositis 10.2
28 vasculitis 10.2
29 dowling-degos disease 1 10.2
30 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
31 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
32 lymphoma 10.2
33 mixed connective tissue disease 10.2
34 systemic lupus erythematosus 10.2
35 graft-versus-host disease 10.2
36 immunoglobulin alpha deficiency 10.2
37 pericarditis 10.2
38 scleredema adultorum 10.2
39 lupus erythematosus 10.2
40 chronic graft versus host disease 10.2
41 multiple sclerosis 10.1
42 sarcoidosis 1 10.1
43 immune deficiency disease 10.1
44 proteinuria, chronic benign 10.1
45 peripheral t-cell lymphoma 10.1
46 common variable immunodeficiency 10.1
47 agammaglobulinemia 10.1
48 glomerulonephritis 10.1
49 iga glomerulonephritis 10.1
50 neuropathy 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:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 acrocyanosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001063
3 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
4 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
5 cellulitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100658
6 macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0012733
7 eosinophilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001880
8 muscular edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100748
9 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
10 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
11 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
12 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
13 fasciitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100537
14 myositis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100614
15 abnormality of eosinophils 58 Very frequent (99-80%)
16 edema 58 Very frequent (99-80%)
17 eosinophilic fasciitis 31 HP:0045029

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Muscle:
eosinophilic fasciitis

Clinical features from OMIM®:

226350 (Updated 05-Mar-2021)

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 14)
# 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
Levoleucovorin Approved, Investigational 68538-85-2 149436
4
Methotrexate Approved 1959-05-2, 59-05-2 126941
5
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6 Immunologic Factors
7 Antirheumatic Agents
8 Immunosuppressive Agents
9 Folic Acid Antagonists
10 Vitamin B Complex
11 Antimetabolites
12 Vitamin B9
13 Dermatologic Agents
14 Folate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Protocol Based Treatment for Debilitating Fibrosing Skin Disorders With (Anti-CD 20), Rituximab, Evaluating Safety and Efficacy Unknown status NCT00936546 Phase 2 Rituximab
2 Mepolizumab for the Treatment of Eosinophilic Fasciitis; An Open-Label, Single-Arm, Exploration Study Not yet recruiting NCT04305678 Phase 1 Mepolizumab
3 Shulman Fasciitis Prevalence Study in Alsace Unknown status NCT02829112
4 Treatment With High Dose Methotrexate in Patients With Eosinophilic Fasciitis Completed NCT00441961 methotrexate

Search NIH Clinical Center for Eosinophilic Fasciitis

Genetic Tests for Eosinophilic Fasciitis

Anatomical Context for Eosinophilic Fasciitis

MalaCards organs/tissues related to Eosinophilic Fasciitis:

40
Skin, Bone Marrow, Bone, Thyroid, Neutrophil, Breast, Spinal Cord

Publications for Eosinophilic Fasciitis

Articles related to Eosinophilic Fasciitis:

(show top 50) (show all 754)
# Title Authors PMID Year
1
Eosinophilic fasciitis in a pair of siblings. 57 61
2912468 1989
2
Eosinophilic fasciitis and eosinophilic cellulitis in a patient with abnormal circulating clonal T cells: increased production of interleukin 5 and inhibition by interferon alfa. 54 61
14639411 2003
3
Serum and synovial fluid levels of interleukin-5 in a patient with eosinophilic fasciitis. 54 61
9014593 1996
4
Biomarker profiles of endothelial activation and dysfunction in rare systemic autoimmune diseases: implications for cardiovascular risk. 61
32810267 2021
5
Eosinophilic fasciitis induced by natalizumab in a patient affected by multiple sclerosis. 61
33580935 2021
6
18F-FDG PET/CT and MRI findings of Shulman syndrome also known as eosinophilic fasciitis. 61
33462629 2021
7
Eosinophilic fasciitis in a pregnant woman with corticosteroid dependence and good response to infliximab. 61
33484332 2021
8
Eosinophilic fasciitis in common variable immunodeficiency with hypereosinophilia. 61
32891788 2021
9
Eosinophilic fasciitis in association with nivolumab: The importance of eosinophilia. 61
33294570 2020
10
A "groovy" diagnosis: Eosinophilic fasciitis. 61
33363970 2020
11
Immune Checkpoint Inhibitor-Associated Scleroderma-Like Syndrome: A Report of a Pembrolizumab-Induced "Eosinophilic Fasciitis-Like" Case and a Review of the Literature. 61
33067734 2020
12
Nivolumab-induced plaque morphea in a malign melanoma patient. 61
33355973 2020
13
Characteristics of Japanese patients with eosinophilic fasciitis: A brief multicenter study. 61
32860239 2020
14
Necrotizing fasciitis secondary to the immunosuppressive treatment of eosinophilic fasciitis: radiological imaging, treatment modalities, and outcome. 61
32893606 2020
15
Eosinophilic Fasciitis - Clinical Features and Therapeutic Management. 61
33422175 2020
16
Imatinib as a potentially effective therapeutic alternative in corticosteroid-resistant eosinophilic fasciitis. 61
32970342 2020
17
Trunk involvement and peau d'orange aspect are poor prognostic factors in eosinophilic fasciitis (Shulman's disease): a multicenter retrospective study of 119 patients. 61
33188872 2020
18
Update: Atypical presentation of a midgut neuroendocrine tumor originally diagnosed as eosinophilic fasciitis. 61
32913012 2020
19
Ultrasound in the diagnosis and monitoring of eosinophilic fasciitis. 61
33099646 2020
20
Musculoskeletal Ultrasound Can Aid in Diagnosis and Follow-up of a Patient With Eosinophilic Fasciitis. 61
32976198 2020
21
A case of eosinophilic fasciitis without skin manifestations: a case report in a patient with lupus and literature review. 61
32974835 2020
22
Successful treatment of refractory eosinophilic fasciitis with reslizumab. 61
32913886 2020
23
Clinical and pathologic features and therapeutic management of eosinophilic fasciitis. 61
32925284 2020
24
A Case of Eosinophilic Fasciitis Presenting with Palmar Stiffness. 61
33165434 2020
25
A clue for eosinophilic fasciitis: groove sign. 61
32929499 2020
26
Eosinophilic fasciitis induced by nivolumab therapy managed without treatment interruption or systemic immunosuppression. 61
32715051 2020
27
Case of eosinophilic fasciitis during military training in a Nepalese British infantry soldier. 61
32139410 2020
28
Eosinophilic Dermatoses: Recognition and Management. 61
32394361 2020
29
Eosinophilic Fasciitis in a Patient With Crohn's Disease Treated With Infliximab. A Rare Coexistence or a Drug-related Manifestation? 61
32529216 2020
30
Eosinophilic fasciitis associated with generalized morphea and IgA nephropathy. 61
32441406 2020
31
Development of eosinophilic fasciitis during treatment with certolizumab pegol for ankylosing spondylitis. 61
32242807 2020
32
The use of tocilizumab in the treatment of refractory eosinophilic fasciitis: a case-based review. 61
31974818 2020
33
Mycophenolate Mofetil for Eosinophilic Fasciitis: A Retrospective Analysis From 3 Tertiary Care Centers. 61
32236487 2020
34
Eosinophilic Fasciitis. 61
32236499 2020
35
Janus kinase inhibitor tofacitinib is a potential therapeutic option for refractory eosinophilic fasciitis. 61
31820721 2020
36
Herpes zoster infection-induced common peroneal nerve paresis resulting in foot drop in a patient with eosinophilic fasciitis: a case report. 61
32075466 2020
37
Lipoatrophic panniculitis in an adolescent. 61
32198786 2020
38
An Unusual Case of Morphea in the Setting of Aplastic Anemia. 61
32382464 2020
39
Atorvastatin-induced Lichenoid Drug Eruption: A Case Report and Review of Statin-associated Cutaneous Adverse Events. 61
32257699 2020
40
Sclerodermalike syndromes: Great imitators. 61
32513403 2020
41
Eosinophilic Fasciitis - Beware of the Rare Form of Hand Contracture. 61
32000611 2020
42
A case of eosinophilic fasciitis and generalized morphea overlap. 61
32239898 2020
43
Baseline characteristics and long-term outcomes of eosinophilic fasciitis in 89 patients seen at a single center over 20 years. 61
31811710 2020
44
Eosinophilic Fasciitis Triggered by Nivolumab: A Remarkable Efficacy of the mTOR Inhibitor Sirolimus. 61
32127188 2020
45
Eosinophilic Fasciitis Following Checkpoint Inhibitor Therapy: Four Cases and a Review of Literature. 61
32043775 2020
46
Eosinophilic Fasciitis of Wrists with a Positive Prayer Sign. 61
32051794 2020
47
Groove sign: Heeding clue to eosinophilic fasciitis. 61
31556872 2020
48
Nivolumab-induced eosinophilic fasciitis: a case report. 61
32064454 2020
49
Vigorous exercise-induced unilateral eosinophilic fasciitis: rare and easily misdiagnosed subtype. 61
32782698 2020
50
Atypical Presenting Symptoms of Acute Onset Acquired Haemophilia with Eosinophilic Fasciitis. 61
32908832 2020

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 peptidyl-tyrosine phosphorylation GO:0050731 9.16 IL5 BMP6
2 positive regulation of cell proliferation GO:0008284 9.13 IL5 IFNG BMP6
3 immune response GO:0006955 8.8 IL5 IFNG BMP6

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 IL5 BMP6
2 cytokine activity GO:0005125 8.8 IL5 IFNG BMP6

Sources for Eosinophilic Fasciitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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