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.
- Bullous Congenital CIE
- Bullous Congenital Ichthyosiform Erythroderma (of Brocq)
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
NIH/NationaI Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Northwestern University Feinberg School of Medicine
Department of Surgery
233 East Erie Street
Chicago, IL 60611
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
European Network for Ichthyosis (ENI)
In den Dellen 21
Tel: +49 2207849869