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Disease Profile
Eosinophilic fasciitis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Adult
ICD-10
M35.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Shulman syndrome; EF
Categories
Connective tissue diseases; Nervous System Diseases
Summary
Eosinophilic fasciitis is a very rare condition in which muscle
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
Cellulitis |
Bacterial infection of skin
Skin infection
[ more ] |
0100658 |
Eosinophilia |
High blood eosinophil count
|
0001880 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Macule |
Flat, discolored area of skin
|
0012733 |
Muscular edema | 0100748 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
30%-79% of people have these symptoms | ||
Arthralgia |
Joint pain
|
0002829 |
Joint inflammation
|
0001369 | |
5%-29% of people have these symptoms | ||
Fasciitis |
Inflammation of the fascia
|
0100537 |
Myositis |
Muscle inflammation
|
0100614 |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Weight loss | 0001824 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Eosinophilic fasciitis | 0045029 |
Treatment
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
American Partnership For Eosinophilic Disorders
PO Box 29545
Atlanta, GA 30359
Telephone: 713-493-7749
E-mail: [email protected]
Website: https://www.apfed.org -
International Eosinophil Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202
Telephone: 414-276-6445
E-mail: [email protected]/
Website: https://www.eosinophil-society.org/
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Eosinophilic fasciitis. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Danis R et al., Unusual presentation of eosinophilic fasciitis: two case reports and a review of the literature. J Med Case Reports. 2010; 4: 46.
References
- Werth VP. Eosinophilic fasciitis. January 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000447.htm. Accessed 11/12/2015.
- Mertens JS, Seyger MMB, Thurlings RM, Radstake TRDJ, de Jong EMGJ. Morphea and Eosinophilic Fasciitis: An Update. Am J Clin Derma. 2017; 18(4):491–512. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5506513/.
- Danis R et al.,. Unusual presentation of eosinophilic fasciitis: two case reports and a review of the literature. J Med Case Reports. 2010; 4:46. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830980. Accessed 6/11/2015.
- Pinal-Fernandez I, Selva-O' Callaghan A, Grau JM. Diagnosis and classification of eosinophilic fasciitis. Autoimmun Rev. 2014 Apr-May; 13(4-5):379-82. Accessed 6/11/2015.
- Henning PM. Eosinophilic Fasciitis. Medscape Reference. March 2015; https://emedicine.medscape.com/article/329515-overview. Accessed 11/12/2015.
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