You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
NORD is very grateful to Maurice A.M. van Steensel, MD, PhD, Professor of Genetic Dermatology, Department of Dermatology, Maastricht University Medical Center, The Netherlands, for assistance in the preparation of this report.
Synonyms of Epidermolytic Ichthyosis
- bullous congenital CIE
- bullous congenital ichthyosiform erythroderma (of Brocq)
- epidermolytic hyperkeratosis
- No subdivisions found.
Epidermolytic ichthyosis (EI) specifically refers to a hereditary skin disorder that is characterized by varying degrees of blistering and subsequent reactive scaling of the skin. The underlying histopathology shows mid-epidermal splitting and hyperkeratosis, together referred to as epidermolytic hyperkeratosis (EHK). 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.
The term epidermolytic ichthyosis was agreed upon by the International Ichthyosis Consensus Group in 2009 and replaces the older, confusing labels of bullous congenital ichthyosiform erythroderma (Brocq) and epidermolytic hyperkeratosis.
A number of disorders show epidermolytic hyperkeratosis, including EI, superficial epidermolytic ichthyosis bullosa and desmosomal disorders such as McGrath ectodermal dysplasia-skin fragility syndrome. Much confusion has resulted from use of the term EHK to refer to the disorder now known as epidermolytic ichthyosis.
Organizations related to Epidermolytic Ichthyosis
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1987, 1988, 1990, 1992, 1993, 2003, 2004, 2008, 2012
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.