Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Epidermolytic hyperkeratosis


Other Names for this Disease
  • BCIE
  • BIE
  • Bullous congenital ichthyosiform erythroderma
  • Bullous erythroderma ichthyosiformis congenita of Brocq
  • Bullous ichthyosiform erythroderma
More Names
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Your Question

What is the right name for epidermolytic hyperkeratosis? Is anyone doing research on this disease? Is there a cure?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is epidermolytic hyperkeratosis?

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]
Last updated: 11/30/2011

What is the right name for epidermolytic hyperkeratosis?

Epidermolytic hyperkeratosis has a number of different names or synonyms. Please see the section of this page called "Other names people use for this condition" for a full list of names that have been used to describe epidermolytic hyperkeratosis. 
Last updated: 11/30/2011

Is anyone doing research on epidermolytic hyperkeratosis? Is there a cure?

Currently there is not a cure for epidermolytic hyperkeratosis. We were able to identify the following research projects and activities that may be of interest to you:

The Office of Rare Diseases Research co-sponsored a conference titled Frontiers in Ichthyosis Research from June 23-25, 2010 at the Regal Sun Resort in Lake Buena Vista, Orlando, Florida. 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. Click on the link above to learn more.

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.  There is a study titled “Regulation and Function of Keratins in the Epidermis” one aim of this trials is to use a mouse model of epidermolytic hyperkeratosis to test new gene therapy strategies. Although this project may not conduct studies on humans, you may want to contact the investigators to learn more.

To search RePORT for studies, click on the link below and enter the disease name in the “Terms Search” box.  Then click “Submit Query”.
http://projectreporter.nih.gov/reporter.cfm

The Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T) is an advocacy organization that funds and supports investigation into the causes, treatments, and potential cures for ichthyosis. Click on the link above to view a list of research programs supported by F.I.R.S.T (research links are listed on the right hand column of the page).

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 clicking on the link above.

Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.

The National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. No studies involving bullous erythroderma ichthyosiformis congenita of Brocq are listed at this time, but check this site often for updates. To search for a study, use "bullous erythroderma ichthyosiformis congenita of Brocq" or "epidermolytic hyperkeratosis" as your search term.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any clinical trials.

Patient Recruitment and Public Liaison Office (PRPL)
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/

If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8

Last updated: 11/30/2011

References