Skin macules tend to be the earliest symptom in multisystem disease. Small bowel involvement is very common, and Degos disease can cause intestinal perforation (tear). Intestinal perforation is a medical emergency which requires prompt treatment. Click here to learn more about the signs and symptoms of intestinal perforation. Unfortunately intestinal disease tends to recur in these individuals.Degos disease can also affect the nervous system, in particular the cerebral and peripheral nerves. This may result in a variety of symptoms, such as partial paralysis, aphasia (difficulty communicating), cranial neuropathies (which affect nerves that are connected with the brain and control sight, eye movement, hearing, and taste), sensory disturbances, and seizures.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Aplasia/Hypoplasia of the skin||90%|
|Telangiectasia of the skin||90%|
|Nausea and vomiting||50%|
|Abnormality of the myocardium||7.5%|
|Abnormality of the pericardium||7.5%|
|Abnormality of the pleura||7.5%|
|Abnormality of the urinary system||7.5%|
|Coronary artery disease||7.5%|
|Cranial nerve paralysis||7.5%|
|Abnormality of the conjunctiva||-|
|Autosomal dominant inheritance||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Overcoming Barriers to International Clinical Trials for Rare Cancers
Friday, December 10, 2010
Location: Bethesda, Maryland
Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.
Contact: Jack Welch, M.D., Ph.D., firstname.lastname@example.org@nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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