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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • EHK
  • Congenital bullous ichthyosiform erythroderma
  • Bullous congenital ichthyosiform erythroderma
  • BCIE
  • Bullous ichthyosiform erythroderma congenita
  • Bullous ichthyosiform erythroderma
  • BIE
  • Bullous erythroderma ichthyosiformis congenita of Brocq
Home > Rare Diseases and Related Terms > Epidermolytic hyperkeratosis



Epidermolytic hyperkeratosis
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Epidermolytic hyperkeratosis is a genetic skin disorder. It is characterized by widespread blistering and skin that is reddened, dry, thickened, and scaly (ichthyotic erythroderma). It is caused by mutations in the KRT1 or KRT10 genes. It has an autosomal dominant pattern of inheritance.[1]


References
  1. KRT1. Genetic Home Reference. Available at: http://www.ghr.nlm.nih.gov/gene=krt1. Accessed April 28, 2010.
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Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Epidermolytic hyperkeratosis click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 
More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

  • General

    • Genetics Home Reference (GHR) contains a gene summary on KRT1 and KRT10. Mutations in these genes can cause bullous erythroderma ichthyosiformis congenita of Brocq. Click on the links above to go to GHR and review these summary pages.
    • Genetics Home Reference (GHR) contains information on Epidermolytic hyperkeratosis. Click on the link to go to GHR and review the information.
    • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
    • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) offers printed materials on this topic. We recommend calling toll-free at 877-226-4267 to request a copy of this information.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Epidermolytic hyperkeratosis. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolytic hyperkeratosis. Click on the link to view a sample search on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 6 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 Testing | Genetic Services | Parent Resources
Services (Found 6 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for KRT1 and KRT10. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Click on the gene names above to see a list of testing laboratories. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
    • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
  • Genetic Services

    • You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:  

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 4 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • 2010 Genetic Alliance Annual Conference , July 15, 2010 - July 18, 2010
      Location: Bethesda North Marriott Hotel and Conference Center, Bethesda, Maryland
      Description: The Genetic Alliance Annual Conference is consistently inspirational and enables partnership among all stakeholders: advocates and community leaders, health and industry professionals, policymakers and academicians.
    • Frontiers in Ichthyosis Research, June 23, 2010 - June 25, 2010
      Location: Regal Sun Resort in Lake Buena Vista, Orlando, Florida
      Description: The goals of this conference were to (1) provide an opportunity for investigators to become inspired by ichthyosis patients, thereby helping them focus on facilitating diagnosis, improving understanding of long- and short-term medical and social issues, and developing new therapeutic approaches to treatment and (2) identify new ways in which the investigators, patients, and patient support groups can achieve ongoing synergistic interactions.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 5 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
    • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm
  • Patient Registry

    • The National Registry for Ichthyosis and Related Disorders at the University of Washington was created with the support of the National Institutes of Health (NIH) to encourage research into the diagnosis and treatment of ichthyoses and related disorders.  Although the registry is no longer recruiting participants, you can learn more about the study by visiting the link below.
      Link: http://www.skinregistry.org/
    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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