EF
MCID: ESN015
MIFTS: 48

Eosinophilic Fasciitis (EF)

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

Aliases & Classifications for Eosinophilic Fasciitis

MalaCards integrated aliases for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 56 74 52 58 36 54 71
Shulman Syndrome 52 58
Diffuse Fasciitis with Eosinophilia 58
Eosinophilic Synovitis 71
Ef 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 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 cutaneous leishmaniasis. 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 Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are fatigue and acrocyanosis

NIH Rare Diseases : 52 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 429)
# Related Disease Score Top Affiliating Genes
1 hypereosinophilic syndrome 30.9 IL5 IFNG
2 cutaneous leishmaniasis 30.0 IL5 IFNG
3 schistosomiasis 29.9 IL5 IFNG
4 cellulitis 29.7 IL5 IFNG
5 hashimoto thyroiditis 29.6 IL5 IFNG
6 mycosis fungoides 29.5 IL5 IFNG
7 toxic oil syndrome 29.5 IL5 IFNG AHR
8 cutaneous t cell lymphoma 29.5 IL5 IFNG
9 proteasome-associated autoinflammatory syndrome 1 29.4 IL5 IFNG
10 otitis media 29.4 IL5 IFNG
11 autoimmune disease 29.4 IL5 IFNG BMP6
12 gastroenteritis 29.3 IL5 IFNG
13 eosinophilia-myalgia syndrome 29.2 IL5 IFNG BMP6 AHR
14 allergic hypersensitivity disease 29.2 IL5 IFNG
15 tetanus 29.2 IL5 IFNG
16 skin disease 29.1 IL5 IFNG BMP6
17 lung disease 29.0 IL5 IFNG BMP6
18 inflammatory bowel disease 28.2 IL5 IFNG AHR
19 endocardial fibroelastosis 12.1
20 fetal erythroblastosis 11.3
21 fasciitis 11.2
22 barth syndrome 11.2
23 peripartum cardiomyopathy 11.2
24 eosinophilic pustular folliculitis 11.2
25 systemic scleroderma 10.9
26 polycystic kidney disease 10.9
27 localized scleroderma 10.7
28 helix syndrome 10.7
29 scleroderma, familial progressive 10.6
30 connective tissue disease 10.6
31 raynaud phenomenon 10.5
32 myositis 10.5
33 aplastic anemia 10.4
34 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.4
35 carpal tunnel syndrome 10.4
36 colorectal adenoma 10.3
37 chronic interstitial cystitis 10.3
38 endometriosis 10.3
39 thyroiditis 10.3
40 polymyositis 10.3
41 plica syndrome 10.3
42 synovitis 10.3
43 vasculitis 10.3
44 linear scleroderma 10.3
45 lichen sclerosus et atrophicus 10.2
46 lymphoma 10.2
47 dermatomyositis 10.2
48 thrombocytopenia 10.2
49 dowling-degos disease 1 10.2
50 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2

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 macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0012733
5 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
6 cellulitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100658
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 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
12 myositis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100614
13 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
14 fasciitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100537
15 edema 58 Very frequent (99-80%)
16 abnormality of eosinophils 58 Very frequent (99-80%)
17 eosinophilic fasciitis 31 HP:0045029

Symptoms via clinical synopsis from OMIM:

56
Muscle:
eosinophilic fasciitis

Clinical features from OMIM:

226350

MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

45
# 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 Immunologic Factors Phase 2
3 Antirheumatic Agents Phase 2
4 Antineoplastic Agents, Immunological Phase 2
5
leucovorin Approved 58-05-9 6006 143
6
Methotrexate Approved 59-05-2, 1959-05-2 126941
7
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
8 Folic Acid Antagonists
9 Vitamin B Complex
10 Folate
11 Immunosuppressive Agents
12 Dermatologic Agents
13 Antimetabolites
14 Vitamin B9

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, Bone Marrow, Thyroid, T Cells, Neutrophil, Breast

Publications for Eosinophilic Fasciitis

Articles related to Eosinophilic Fasciitis:

(show top 50) (show all 731)
# Title Authors PMID Year
1
Eosinophilic fasciitis in a pair of siblings. 61 56
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. 61 54
14639411 2003
3
Serum and synovial fluid levels of interleukin-5 in a patient with eosinophilic fasciitis. 54 61
9014593 1996
4
Eosinophilic Fasciitis in a Patient With Crohn's Disease Treated With Infliximab. A Rare Coexistence or a Drug-related Manifestation? 61
32529216 2020
5
Herpes zoster infection-induced common peroneal nerve paresis resulting in foot drop in a patient with eosinophilic fasciitis: a case report. 61
32075466 2020
6
Eosinophilic Dermatoses: Recognition and Management. 61
32394361 2020
7
Eosinophilic fasciitis associated with generalized morphea and IgA nephropathy. 61
32441406 2020
8
The use of tocilizumab in the treatment of refractory eosinophilic fasciitis: a case-based review. 61
31974818 2020
9
Janus kinase inhibitor tofacitinib is a potential therapeutic option for refractory eosinophilic fasciitis. 61
31820721 2020
10
Mycophenolate Mofetil for Eosinophilic Fasciitis: A Retrospective Analysis From 3 Tertiary Care Centers. 61
32236487 2020
11
Development of eosinophilic fasciitis during treatment with certolizumab pegol for ankylosing spondylitis. 61
32242807 2020
12
An Unusual Case of Morphea in the Setting of Aplastic Anemia. 61
32382464 2020
13
Eosinophilic Fasciitis. 61
32236499 2020
14
Atorvastatin-induced Lichenoid Drug Eruption: A Case Report and Review of Statin-associated Cutaneous Adverse Events. 61
32257699 2020
15
Sclerodermalike syndromes: Great imitators. 61
32513403 2020
16
Case of eosinophilic fasciitis during military training in a Nepalese British infantry soldier. 61
32139410 2020
17
Eosinophilic Fasciitis - Beware of the Rare Form of Hand Contracture. 61
32000611 2020
18
Lipoatrophic panniculitis in an adolescent. 61
32198786 2020
19
Baseline characteristics and long-term outcomes of eosinophilic fasciitis in 89 patients seen at a single center over 20 years. 61
31811710 2020
20
Eosinophilic Fasciitis Following Checkpoint Inhibitor Therapy: Four Cases and a Review of Literature. 61
32043775 2020
21
Eosinophilic Fasciitis Triggered by Nivolumab: A Remarkable Efficacy of the mTOR Inhibitor Sirolimus. 61
32127188 2020
22
A case of eosinophilic fasciitis and generalized morphea overlap. 61
32239898 2020
23
Eosinophilic Fasciitis of Wrists with a Positive Prayer Sign. 61
32051794 2020
24
Groove sign: Heeding clue to eosinophilic fasciitis. 61
31556872 2020
25
Nivolumab-induced eosinophilic fasciitis: a case report. 61
32064454 2020
26
Lessons of the month 2: Connecting the clues: limb swelling and pain. 61
31941742 2020
27
[SYSTEMIC REVIEW OF EOSINOPHILIC DERMATOSES PATIENTS TREATED WITH TNF-Α INHIBITORS AND USTEKINUMAB]. 61
31930806 2020
28
Intravenous Immunoglobulin for Refractory Eosinophilic Fasciitis: A Retrospective Analysis from 3 Tertiary Care Centers. 61
31846716 2019
29
Eosinophilic fasciitis in a 2-year-old child treated with a combination of methotrexate and corticosteroids. 61
31531880 2019
30
Eosinophilic Fasciitis and Common Variable Immunodeficiency: An Unusual Association and Literature Review. 61
31307966 2019
31
[18F] FDG PET/CT may be a useful adjunct in diagnosis of eosinophilic fasciitis. 61
29074338 2019
32
Eosinophilic Fasciitis Responds Well to Steroids and Methotrexate. 61
31745423 2019
33
Eosinophilic Fasciitis With Concomitant Morphea Profunda Treated With Intravenous Immunoglobulin. 61
31693648 2019
34
Eosinophilic fasciitis: From pathophysiology to treatment. 61
30910631 2019
35
Checkpoint inhibitor-induced eosinophilic fasciitis following high eosinophilia associated with complete response. 61
31056673 2019
36
Eosinophilic Fasciitis Following Checkpoint Inhibitor Therapy: Four Cases and a Review of Literature. 61
31615951 2019
37
Eosinophilic dermatoses. 61
31562692 2019
38
Eosinophilic Fasciitis - Report of Three Cases and Review of the Literature. 61
31850100 2019
39
Eosinophilic fasciitis presenting as a unilateral, solitary plaque. 61
31553865 2019
40
Eosinophilic fasciitis associated with myositis: Report of four cases and review of the literature. 61
30592019 2019
41
[Sclerosing skin diseases]. 61
31292667 2019
42
Evolution of one systemic rheumatic disease into another: scleroderma evolving to eosinophilic fasciitis with myositis. 61
31498067 2019
43
Steroid-resistant eosinophilic fasciitis successfully treated with addition of extracorporeal photopheresis. 61
31025428 2019
44
A rarer association of eosinophilic fasciitis. 61
31334201 2019
45
[Hypereosinophilic syndrome and other rheumatic diseases with hypereosinophilia]. 61
30937528 2019
46
Eosinophilic fasciitis: an atypical presentation of a rare disease. 61
30994827 2019
47
A Histologically Proven Case of Autoimmune Hepatitis with Eosinophilic Fasciitis. 61
30333401 2019
48
[Mimetics of systemic sclerosis]. 61
30255410 2019
49
Diagnostic ultrasonography in a child with eosinophilic fasciitis. 61
30168166 2019
50
An Original Case of an Association of Eosinophilic Fasciitis with Cholangitis Induced by Nivolumab. 61
30579548 2019

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 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 IFNG BMP6 AHR
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.16 IL5 BMP6
3 positive regulation of cell proliferation GO:0008284 9.13 IL5 IFNG BMP6
4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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