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)|
|Abnormal blistering of the skin||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the toenails||90%|
|Aplasia/Hypoplasia of the skin||90%|
|Abnormality of dental enamel||50%|
|Abnormality of the hand||50%|
|Abnormality of the larynx||50%|
|Camptodactyly of toe||50%|
|Feeding difficulties in infancy||50%|
|Hypopigmented skin patches||50%|
|Abnormality of the preputium||7.5%|
|Atypical scarring of skin||7.5%|
|Congestive heart failure||7.5%|
|Neoplasm of the skin||7.5%|
|Restrictive ventilatory defect||7.5%|
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
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. Suggest an organization to add.
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.
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location: New London, NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, email@example.com
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
The following diseases are related to Dystrophic epidermolysis bullosa. If you have a question about any of these diseases, you can contact GARD.