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|
|Abnormal toenail morphology||
Abnormality of the toenail
Abnormality of the toenails[ more ]
|Abnormality of the fingernails||
Inflammation of the lips
|30%-79% of people have these symptoms|
Tooth decay[ more ]
|Hypopigmented skin patches||0001053|
|5%-29% of people have these symptoms|
Swallowing difficulty[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal blistering of the skin||
Blisters[ more ]
Poor nail formation
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
2013 Epithelial Differentiation and Keratinization GRC/GRS
Saturday, May 11, 2013 -
Sunday, May 12, 2013
Location: Renaissance Tuscany Il Ciocco Resort, Lucca (Barga), Italy
Description: Novel findings in rare disease gene identification, together with studies on disease mechanisms in human patients and in mouse models, will suggest novel therapeutic approaches and form the basis for new prenatal tests. Investigators including Drs. Tolar and Oro will report on the results of bone marrow stem cell therapies and small molecule therapeutics in human patients with rare skin diseases; successful outcomes of these clinical trials will spur expansion of the use of these approaches in patients. Gene correction in patient derived iPS is an exciting potential therapeutic approach to both recessive and dominant genetic skin diseases. Drs. Roop and Christiano will provide updates on derivation and characterization of iPS from patients, and will discuss approaches to gene correction and differentiation of iPS into skin cell lineages for potential use in grafting procedures
Contact: Carl C. Baker, M.D., Ph.D., NIAMS(301) firstname.lastname@example.org
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
My cousin has dominant dystrophic epidermolysis bullosa. Is there a chance her future children might also have the condition? Is this condition curable? See answer