Abstract
Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. Objective: We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. Methods: The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventually leading to the First Ichthyosis Consensus Conference held in Sorze, France, on January 23 and 24, 2009, where subcommittees on different issues proposed terminology that was debated until consensus was reached. Results: It was agreed that currently the nosology should remain clinically based. "Syndromic" versus "nonsyndromic" forms provide a useful major subdivision. Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the umbrella term, "keratinopathic ichthyosis"-under which are included epidermolytic ichthyosis, superficial epidermolytic ichthyosis, and ichthyosis Curth-Macklin. "Autosomal recessive congenital ichthyosis" is proposed as an umbrella term for the harlequin ichthyosis, lamellar ichthyosis, and the congenital ichthyosiform erythroderma group. Limitations: As more becomes known about these diseases in the future, modifications will be needed. Conclusion: We have achieved an international consensus for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 607-641 |
| Number of pages | 35 |
| Journal | Journal of the American Academy of Dermatology |
| Volume | 63 |
| Issue number | 4 |
| DOIs | |
| State | Published - Oct 2010 |
Funding
We would like to dedicate this classification to all our patients and their families, and thank all colleagues and friends, who are helping to achieve optimal clinical care for affected individuals and/or promote through their research our knowledge about the disorders of cornification. We are deeply grateful for the generous financial support of the Laboratories Pierre Fabre, and would like to say “grand merci” to Anita Couteau, Didier Coustou, and Pascal Lefrancois–and to Brigitte Willis from the Network for Ichthyoses and Related Keratinization Disorders Center in Münster, who together perfectly organized the wonderful, unforgettable conference in Sorèze. Moreover, we would like to acknowledge the help of Dr Dan Ben Amitai and Dr Hagen Ott for providing photographs, and Jutta Bückmann for the help with the slides from the Department of Dermatology, Münster (head Thomas A. Luger). We also express gratitude to Meral Arin, Steffen Emmert, Rudolf Happle, Peter Höger, and Dieter Metze for their support and helpful comments. The first author wants to thank his wonderful family, namely Melody, Alanna, and Amechi. The accommodation and travel costs of the participants and the conference rooms of the Ichthyosis Consensus Conference were sponsored by the Laboratories Pierre Fabre, Castres, France . Moreover, our work is supported by the Network for Ichthyoses and Related Keratinization Disorders (Bundesministerium für Bildung und Forschung, GFGM01143901 ), the Foundation for Ichthyosis and Related Skin Types (United States), and the Ichthyosis Patient Organization of Germany (Selbsthilfe Ichthyose e. V.).
Keywords
- autosomal recessive congenital ichthyosis
- epidermolytic ichthyosis
- genetics
- histology
- keratinopathic ichthyosis
- mendelian disorders of cornification
- superficial epidermolytic ichthyosis
- ultrastructure
ASJC Scopus subject areas
- Dermatology