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||
|80%-99% of people have these symptoms|
|Abnormality of the cerebral vasculature||
Abnormality of the cerebral blood vessels
|Angioid streaks of the retina||0001102|
|Excessive wrinkled skin||0007392|
Noninflammatory retina disease
|Thickened nuchal skin fold||
Thickened skin folds of neck
Thickened skin over the neck[ more ]
|30%-79% of people have these symptoms|
Easy bruising[ more ]
Nearsightedness[ more ]
Loss of eyesight[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the endocardium||0004306|
|Abnormality of the thorax||
Abnormality of the chest
Increased palatal height[ more ]
Stretchable skin[ more ]
|Mitral valve prolapse||0001634|
Skin itching[ more ]
|Sudden cardiac death||
Premature sudden cardiac death
|Telangiectasia of the skin||0100585|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the mouth||
|Congestive heart failure||
Heart failure[ more ]
|Reduced visual acuity||0007663|
Renal failure in adulthood[ more ]
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.
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Pseudoxanthoma Elasticum Research 2010 Conference
Monday, November 29, 2010 -
Tuesday, November 30, 2010
Location: North Bethesda Marriott , Bethesda, MD
Description: The specific aims of this conference were to review the current status of basic and translational research on pseudoxanthoma elasticum (PXE), determine the most relevant biomarkers and clinical endpoints in preparation for clinical trials, and evaluate a number of hypothetical therapeutic interventions including vitamin K therapy and anti-angiogenesis therapies. Additionally, meeting participants reviewed the understanding of the clinical manifestations of PXE in order to come to consensus on diagnostic criteria. The results of the meeting will be used to plan for future research and translational applications.
Contact: Hung Tseng, Ph.D., (301) 496-0810, email@example.com
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Is it recommended to take an antibiotic or other medication before a dental procedure with pseudoxanthoma elasticum? See answer
My mother was diagnosed with pseudoxanthoma elasticum, but no one in the previous three generations of my father's family have been diagnosed with this condition. Now I have a baby who seems to have lumps which look like pseudoxanthoma elasticum on his neck, but no one in the previous three generations of my husband's family have been diagnosed with this condition. My questions are:
1. How can I know whether or not my husband or I are unaffected carriers? What type of blood test do I need to have?
2. Several websites say that pseudoxanthoma elasticum is untreatable. Is that true? Can the progression of this condition be slowed down or managed?
3. My baby was only 3-4 months old when I saw the yellow lumps on his neck, but I read that the average age for the onset of symptoms is in the teens. Is it possible for a baby to show symptoms? See answer