Important
It is possible that the main title of the report Epidermolytic Hyperkeratosisis not the name you expected.
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)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
Foundation for Ichthyosis & Related Skin Types
1364 Welsh Road G2
North Wales, PA 19454
Tel: (215)619-0670
Fax: (215)619-0780
Tel: (800)545-3286
Email: info@scalyskin.org
Internet: http://www.scalyskin.org
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info
Northwestern University Medical School
Department of Surgery
233 East Erie Street
Suite 100
Chicago, IL 60611
Tel: (312)943-5427
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
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
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