Epidermolytic Hyperkeratosis
Important
It is possible that the main title of the report Epidermolytic Hyperkeratosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
- Bullous Congenital CIE
- BCIE
- EHK
- Bullous Congenital Ichthyosiform Erythroderma (of Brocq)
Disorder Subdivisions
- None
General Discussion
Epidermolytic hyperkeratosis refers to hereditary skin disorders that are characterized by varying degrees of blistering and subsequent reactive scaling of the skin. Depending on the nature of the causative mutation, the symptoms may vary from mild blistering upon friction to severe erosions or widespread warty scaling ("porcupine man"). A palmoplantar keratoderma (excessive callus formation on palms and soles) and/or hair abnormalities may be present in some forms of the disorder. Rarely, EHK is part of a cardiocutaneous syndrome where cardiomyopathy and rhythm disturbances accompany the skin disorders (as for instance in Carvajal-Huerta syndrome).
A number of disorders show epidermolytic hyperkeratosis, including BCIE, ichthyosis bullosa Siemens and desmosomal disorders such as McGrath ectodermal dysplasia-skin fragility syndrome. Thus, in Europe, the term EHK is applied only to histopathological findings. However, in this entry, we follow American naming conventions and consider EHK synonymous with BCIE Brocq, a blistering disorder. In January 2009, an international ichthyosis consensus conference will hopefully end the confusion.
Resources
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
NIH/NationaI Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/
Northwestern University Feinberg School of Medicine
Department of Surgery
233 East Erie Street
Suite 100
Chicago, IL 60611
Tel: (312)926-5427
Fax: (312)926-7404
Email: jrandolp@nmh.org
Internet: http://www.surgery.northwestern.edu/
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/AboutGARD.aspx
European Network for Ichthyosis (ENI)
In den Dellen 21
D-51515 K�rten
Germany
Tel: +49 2207849869
Email: e-n-i@gmx.net
Internet: http://www.ichthyosis.eu
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: �11/23/2008
Copyright �1987, 1988, 1990, 1992, 1993, 2003, 2004, 2008�National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
