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) |
| Abnormality of the cerebral vasculature | Very frequent (present in 80%-99% of cases) |
| Angioid streaks of the retina | Very frequent (present in 80%-99% of cases) |
| Excessive wrinkled skin | Very frequent (present in 80%-99% of cases) |
| Retinal hemorrhage | Very frequent (present in 80%-99% of cases) |
| Retinopathy | Very frequent (present in 80%-99% of cases) |
| Skin rash | Very frequent (present in 80%-99% of cases) |
| Thickened nuchal skin fold | Very frequent (present in 80%-99% of cases) |
| Bruising |
Frequent (present in 30%-79% of cases) |
| Myopia | Frequent (present in 30%-79% of cases) |
| Striae distensae | Frequent (present in 30%-79% of cases) |
| Visual impairment | Frequent (present in 30%-79% of cases) |
| Abnormality of the endocardium | Occasional (present in 5%-29% of cases) |
| Abnormality of the thorax | Occasional (present in 5%-29% of cases) |
| Abnormality of |
Occasional (present in 5%-29% of cases) |
| Acne | Occasional (present in 5%-29% of cases) |
| Angina pectoris | Occasional (present in 5%-29% of cases) |
| Blue sclerae | Occasional (present in 5%-29% of cases) |
| Cerebral calcification | Occasional (present in 5%-29% of cases) |
| Dilatation | Occasional (present in 5%-29% of cases) |
| Gastrointestinal hemorrhage | Occasional (present in 5%-29% of cases) |
| Hemiplegia/hemiparesis | Occasional (present in 5%-29% of cases) |
| High palate | Occasional (present in 5%-29% of cases) |
| Hyperextensible skin | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Hypothyroidism | Occasional (present in 5%-29% of cases) |
| Joint hyperflexibility | Occasional (present in 5%-29% of cases) |
| Metamorphopsia | Occasional (present in 5%-29% of cases) |
| Mitral valve prolapse | Occasional (present in 5%-29% of cases) |
| Multiple lipomas | Occasional (present in 5%-29% of cases) |
| Nephrocalcinosis | Occasional (present in 5%-29% of cases) |
| Postural instability | Occasional (present in 5%-29% of cases) |
| Pruritus | Occasional (present in 5%-29% of cases) |
| Renovascular hypertension | Occasional (present in 5%-29% of cases) |
| Restrictive |
Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Subcutaneous nodule | Occasional (present in 5%-29% of cases) |
| Sudden cardiac death | Occasional (present in 5%-29% of cases) |
| Telangiectasia of the skin | Occasional (present in 5%-29% of cases) |
| Abnormality of the mouth | - |
| Accelerated atherosclerosis | - |
| - | |
| Congestive heart failure | - |
| Hypermelanotic macule | - |
| Intermittent claudication | - |
| Macular degeneration | - |
| Mitral stenosis | - |
| Reduced visual acuity | - |
| Renal insufficiency | - |
| Stroke | - |
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
The 11th Annual North American Genetic Analysis of ABC Transporters Workshop
Wednesday, September 24, 2014 -
Thursday, September 25, 2014
Location: NCI-Frederick,
Frederick,
MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Contact: Dr. Michael Dean,(301) 846-5931,deanm@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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, tsengh@mail.nih.gov
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
