MCID: ESN015
MIFTS: 46

Eosinophilic Fasciitis malady

Categories: Rare diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Eosinophilic Fasciitis

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Sources:
30ICD10, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 52 48 54 50 68
Shulman Syndrome 48 54
Diffuse Fasciitis with Eosinophilia 54
 
Eosinophilic Synovitis 68
Ef 48

Characteristics:

Orphanet epidemiological data:

54
eosinophilic fasciitis:
Age of onset: Adult; Age of death: normal life expectancy

HPO:

64
eosinophilic fasciitis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 226350
Orphanet54 ORPHA3165
UMLS via Orphanet69 C0264005
ICD10 via Orphanet31 M35.4
ICD1030 M35.4

Summaries for Eosinophilic Fasciitis

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NIH Rare Diseases:48 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 fasciitis and fetal erythroblastosis, and has symptoms including hypermelanotic macule, acrocyanosis and myalgia. An important gene associated with Eosinophilic Fasciitis is AHR (Aryl Hydrocarbon Receptor), and among its related pathways are G-protein signaling_RhoB regulation pathway and Glucocorticoid receptor regulatory network. Affiliated tissues include skin, bone and thyroid, and related mouse phenotypes are neoplasm and reproductive system.

Wikipedia:71 Eosinophilic fasciitis (/ˌiːəˌsɪnəˈfɪlɪk ˌfæʃiˈaɪtᵻs, ˌiːoʊ-, -ˌfæsi-/), also known... more...

Description from OMIM:52 226350

Related Diseases for Eosinophilic Fasciitis

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Diseases related to Eosinophilic Fasciitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1fasciitis10.9
2fetal erythroblastosis10.8
3barth syndrome10.8
4endocardial fibroelastosis10.8
5eosinophilic pustular folliculitis10.8
6peripartum cardiomyopathy10.8
7eosinophilia10.1
8lymphoma10.1
9eosinophilia-myalgia syndrome10.1
10neuronitis10.0
11arthritis10.0
12thyroiditis10.0
13linear scleroderma9.9
14cholesteatoma of middle ear9.9IFNG, IL5
15thomsen and becker disease9.9IFNG, IL5
16gonococcal synovitis9.9IFNG, IL5
17acute gonococcal salpingitis9.9IFNG, IL5
18opiate dependence9.9IFNG, IL5
19cervix melanoma9.9IFNG, IL5
20systemic lupus erythematosus9.9
21aplastic anemia9.9
22myositis9.9
23localized scleroderma9.9
24lupus erythematosus9.9
25orbit alveolar rhabdomyosarcoma9.9AHR, IFNG
26idiopathic neutropenia9.9IFNG, IL5
27colorectal adenoma9.9
28chronic interstitial cystitis9.9
29endometriosis9.9
30buphthalmos9.9IFNG, IL5
31tetanus neonatorum9.9IFNG, IL5
32x-linked intellectual disability, siderius type9.9IFNG, IL5
33reproductive system disease9.9IFNG, IL5
34sarcoid meningitis9.9IFNG, IL5
35wissler's syndrome9.9IFNG, IL5
36dengue disease9.9IFNG, IL5
37gastric ulcer9.9IFNG, IL5
38churg-strauss syndrome9.9IFNG, IL5
39exophthalmos9.8IFNG, IL5
40conventional malignant hemangiopericytoma9.8IFNG, IL5
41cutaneous t cell lymphoma9.8
42colitis9.8
43connective tissue disease9.8
44vasculitis9.8
45scleredema9.8
46paraneoplastic syndromes9.8
47blind hypotensive eye9.8IFNG, IL5
48lung sarcoma9.8IFNG, IL5
49alternating exotropia9.8IFNG, IL5
50renal cell carcinoma 49.8BMP6, IFNG

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



Diseases related to eosinophilic fasciitis

Symptoms & Phenotypes for Eosinophilic Fasciitis

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Symptoms by clinical synopsis from OMIM:

226350

Clinical features from OMIM:

226350

Human phenotypes related to Eosinophilic Fasciitis:

 64 54 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypermelanotic macule64 hallmark (90%) HP:0001034
2 acrocyanosis64 54 hallmark (90%) Very frequent (99-80%) HP:0001063
3 myalgia64 54 hallmark (90%) Very frequent (99-80%) HP:0003326
4 cellulitis64 54 hallmark (90%) Very frequent (99-80%) HP:0100658
5 muscular edema64 54 hallmark (90%) Very frequent (99-80%) HP:0100748
6 arthritis64 54 typical (50%) Frequent (79-30%) HP:0001369
7 arthralgia64 54 typical (50%) Frequent (79-30%) HP:0002829
8 weight loss64 54 occasional (7.5%) Occasional (29-5%) HP:0001824
9 paresthesia64 54 occasional (7.5%) Occasional (29-5%) HP:0003401
10 myositis64 54 occasional (7.5%) Occasional (29-5%) HP:0100614
11 eosinophilic fasciitis64 HP:0045029
12 edema54 Very frequent (99-80%)
13 subcutaneous nodule54 Very frequent (99-80%)
14 abnormality of eosinophils54 Very frequent (99-80%)
15 eosinophilia54 Very frequent (99-80%)
16 fatigue54 Very frequent (99-80%)
17 macule54 Very frequent (99-80%)
18 fasciitis54 Occasional (29-5%)

MGI Mouse Phenotypes related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.4AHR, IFNG, IL5
2MP:00053898.0AHR, BMP6, IFNG, IL5

Drugs & Therapeutics for Eosinophilic Fasciitis

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Drugs for Eosinophilic Fasciitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2Antirheumatic AgentsPhase 210627
3
Methotrexateapproved15181959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
 
Methopterin
Methotextrate
Methotrate
Methotrexat
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
4
Folic Acidapproved, nutraceutical, vet_approved427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
5Immunosuppressive Agents12770
6Antimetabolites11774
7Nucleic Acid Synthesis Inhibitors4855
8Dermatologic Agents5674
9Folic Acid Antagonists2200
10Vitamin B Complex4229
11Antimetabolites, Antineoplastic7171
12Vitamin B9Nutraceutical4279
13Folinic AcidNutraceutical3150
14FolateNutraceutical4279

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic PurpuraWithdrawnNCT01754545Phase 4
2A Protocol Based Treatment for Debilitating Fibrosing Skin Disorders With (Anti-CD 20), Rituximab, Evaluating Safety and EfficacyUnknown statusNCT00936546Phase 2
3Treatment With High Dose Methotrexate in Patients With Eosinophilic FasciitisCompletedNCT00441961
4ADAMTS13 in Thrombotic Thrombocytopenic PurpuraCompletedNCT00426686
5Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)RecruitingNCT01257269
6Shulman Fasciitis Prevalence Study in AlsaceNot yet recruitingNCT02829112

Search NIH Clinical Center for Eosinophilic Fasciitis

Genetic Tests for Eosinophilic Fasciitis

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Anatomical Context for Eosinophilic Fasciitis

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MalaCards organs/tissues related to Eosinophilic Fasciitis:

36
Skin, Bone, Thyroid, T cells, Bone marrow, Neutrophil, B cells

Publications for Eosinophilic Fasciitis

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Articles related to Eosinophilic Fasciitis:

(show top 50)    (show all 371)
idTitleAuthorsYear
1
Eosinophilic Fasciitis Illustrated by [(18)F] FDG-PET/CT. (27523020)
2016
2
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. (27543875)
2016
3
A literature review of eosinophilic fasciitis with an illustrated case. (27839505)
2016
4
Eosinophilic Fasciitis and Acute Encephalopathy Toxicity from Pembrolizumab Treatment of a Patient with Metastatic Melanoma. (26822024)
2016
5
A case of refractory eosinophilic fasciitis with eosinophilic vasculitis. (27033137)
2016
6
Carbidopa-induced eosinophilic fasciitis: A review. (26755008)
2016
7
Progressive Contractures due to Eosinophilic Fasciitis in a 17 year old Male. (27685493)
2016
8
Eosinophilic fasciitis with severe joint contracture in a patient with bladder cancer and B-cell lymphoma. (26671657)
2016
9
High-Dose Intravenous Pulse Methotrexate in Patients With Eosinophilic Fasciitis. (27541801)
2016
10
Juvenile eosinophilic fasciitis: three case reports with review of the literature. (27268780)
2016
11
Successful treatment of aplastic anemia-paroxysmal nocturnal hemoglobinuria associated with eosinophilic fasciitis with matched unrelated donor allogeneic peripheral blood stem cell transplantation. (27525080)
2016
12
Development of Eosinophilic Fasciitis during Infliximab Therapy for Psoriatic Arthritis. (27293946)
2016
13
A rare case of unilateral eosinophilic fasciitis associated with ipsilateral extragenital lichen sclerosus. (27730034)
2016
14
Efficacy of eculizumab against Eosinophilic Fasciitis associated with Paroxysmal Nocturnal Haemoglobinuria. (27401544)
2016
15
Eosinophilic fasciitis after parasite infection. (27407276)
2016
16
Eosinophilic fasciitis with subjacent myositis. (27875630)
2016
17
Treatment of Eosinophilic Fasciitis With Sirolimus. (26934036)
2016
18
Atypical presentations of eosinophilic fasciitis. (26728810)
2016
19
Paraneoplastic eosinophilic fasciitis with generalized morphea and vitiligo in a patient working with organic solvents. (26507670)
2015
20
Eosinophilic fasciitis]. (25897110)
2015
21
Severe eosinophilic fasciitis: comparison of treatment with d-penicillamine plus corticosteroids vs. corticosteroids alone. (26525956)
2015
22
Chronic graft-versus-host disease presenting as eosinophilic fasciitis: therapeutic challenges and an additional case. (25710860)
2015
23
Epidemiology and Treatment of Eosinophilic Fasciitis: An Analysis of 63 Patients From 3 Tertiary Care Centers. (26559760)
2015
24
Eosinophilic fasciitis associated with myositis. (26034478)
2015
25
Eosinophilic fasciitis: clinical characteristics and response to methotrexate. (25530187)
2015
26
Forearm compartment syndrome as a result of eosinophilic fasciitis: case report. (25747740)
2015
27
Atypical Presentation of Eosinophilic Fasciitis with Pitting Edema. (26793415)
2015
28
Atypical presentations of eosinophilic fasciitis. (26658389)
2015
29
Ultrasound is a useful adjunct in diagnosis of eosinophilic fasciitis. (26316576)
2015
30
Finger stiffness or edema as presenting symptoms of eosinophilic fasciitis. (26248532)
2015
31
Efficacy of Tocilizumab in the treatment of Eosinophilic fasciitis: Report of one case. (26162635)
2015
32
Eosinophilic fasciitis: Typical abnormalities, variants and differential diagnosis of fasciae abnormalities using MR imaging. (25746223)
2015
33
Facial lesions heralding the onset and relapse of eosinophilic fasciitis. (26344940)
2015
34
What is your diagnosis? The diagnosis: Eosinophilic fasciitis. (26244355)
2015
35
Diagnosis and classification of eosinophilic fasciitis. (24424187)
2014
36
The use of an elevated aldolase in diagnosing and managing eosinophilic fasciitis. (25245261)
2014
37
Association of eosinophilic fasciitis with morphea. (25507679)
2014
38
Delayed Diagnosis of Eosinophilic Fasciitis: A case report and review of the literature. (24879925)
2014
39
Eosinophilic Fasciitis Occurring under Treatment with Natalizumab for Multiple Sclerosis. (24377479)
2014
40
Association of eosinophilic fasciitis with morphea. (25434081)
2014
41
Fluorodeoxyglucose positron emission tomography in eosinophilic fasciitis. (25241336)
2014
42
Bosentan and Extracorporeal Photochemotherapy in Eosinophilic Fasciitis: Synergistic Action or Fortuitous Coincidence? (24743749)
2014
43
Eosinophilic fasciitis as a paraneoplastic syndrome, a case report and review of the literature. (24525268)
2014
44
A case of eosinophilic fasciitis presenting as pitting edema of the lower extremities. (24587957)
2014
45
Pansclerotic Morphea with Features of Eosinophilic Fasciitis: Distinct Entities or Part of a Continuum? (24383741)
2014
46
Eosinophilic fasciitis/generalized morphea overlap successfully treated with azathioprine. (24697582)
2014
47
Serum levels of matrix metalloproteinase-13 in patients with eosinophilic fasciitis. (25041217)
2014
48
Groove sign in eosinophilic fasciitis. (25043386)
2014
49
Eosinophilic fasciitis-like disorder developing in the setting of multiple sclerosis therapy. (25226017)
2014
50
Usefulness of FDG PET/CT in the Diagnosis of Eosinophilic Fasciitis. (24152641)
2013

Variations for Eosinophilic Fasciitis

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Expression for genes affiliated with Eosinophilic Fasciitis

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Search GEO for disease gene expression data for Eosinophilic Fasciitis.

Pathways for genes affiliated with Eosinophilic Fasciitis

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GO Terms for genes affiliated with Eosinophilic Fasciitis

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Biological processes related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of neuron differentiationGO:00456669.8BMP6, IFNG
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.2AHR, BMP6, IFNG
3positive regulation of transcription, DNA-templatedGO:00458938.6AHR, IFNG, IL5

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.3BMP6, IL5
2cytokine activityGO:00051259.1BMP6, IFNG, IL5

Sources for Eosinophilic Fasciitis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet