Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Vinzenz Oji, MD
- Department of Dermatology, University Hospital Münster, Münster, Germany
- Reprint requests: Vinzenz Oji, MD, Department of Dermatology, University Hospital Münster, Von-Esmarch-Str. 58, 48149 Münster, Germany.
Gianluca Tadini, MD
- Centro Malattie Cutanee Ereditarie, Istituto di Scienze Dermatologiche, Istituto Di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore, Milano, Italy
Masashi Akiyama, MD, PhD
- Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Claudine Blanchet Bardon, MD
- Department of Dermatology, Saint-Louis Hospital, Paris, France
Christine Bodemer, MD, PhD
- Department of Dermatology, Necker Enfants Malades Hospital (APHP)–University Paris V, National Reference Centre for Genodermatoseis (MAGEC), Paris, France
Emmanuelle Bourrat, MD
- Department of Dermatology, Saint-Louis Hospital, Paris, France
Philippe Coudiere, PharmD
- Pierre Fabre Dermatologie, Lavaur, France
John J. DiGiovanna, MD
- Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert School of Medicine of Brown University, Providence, Rhode Island
Peter Elias, MD
- Dermatology, Department of Veterans Affairs Medical Center, San Francisco, California
Judith Fischer, MD, PhD
- Centre National de Génotypage, Evry, France
Philip Fleckman, MD
- Division of Dermatology, University of Washington, Seattle, Washington
Michal Gina, MD
- Hospices Cantonaux–Centre Hospitalier, Universitaire Vaudois, Service de Dermatologie des Hospices, Lausanne, Switzerland
John Harper, MD, FCRCP, FRCPCH
- Great Ormond Street Children's Hospital, London, United Kingdom
Takashi Hashimoto, MD
- Department of Dermatology, Kurume University School of Medicine, Fukuoka, Japan
Ingrid Hausser, PhD
- Department of Dermatology, University Hospital Heidelberg, Germany
Hans Christian Hennies, PhD
- Cologne Center for Genomics, Division of Dermatogenetics, University of Cologne, Cologne, Germany
Daniel Hohl, MD, PhD
- Hospices Cantonaux–Centre Hospitalier, Universitaire Vaudois, Service de Dermatologie des Hospices, Lausanne, Switzerland
Alain Hovnanian, MD, PhD
- Departments of Genetics and Dermatology, Necker Enfants Malades Hospital (APHP)–University Paris V, Paris, France
- Institut national de la santé et de la recherche médicale U781, Toulouse, France
Akemi Ishida-Yamamoto, MD, PhD
- Department of Dermatology, Asahikawa Medical College, Asahikawa, Japan
Witold K. Jacyk, MD
- Department of Dermatology, University of Pretoria, Pretoria, South Africa
Sancy Leachman, MD, PhD
- University of Utah Health Sciences Center, Salt Lake City, Utah
Irene Leigh, MD, FRCP, FMedSci
- Queen Mary and Westfield College, Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London Medical School Queen Mary, London, United Kingdom
Juliette Mazereeuw-Hautier, MD, PhD
- Reference Center for Rare Skin Diseases, Department of Dermatology, Purpan Hospital, Toulouse, France
Leonard Milstone, MD
- Yale University, New Haven, Connecticut
Fanny Morice-Picard, MD
- Department of Dermatology and Pediatric Dermatology, National Reference Center for Rare Skin Diseases, Hôpital St André, Bordeaux, France
Amy S. Paller, MS, MD
- Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois
Gabriele Richard, MD, FACMG
- GeneDx, Gaithersburg, Maryland
Matthias Schmuth, MD
- University of California, San Francisco, California
- Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria
Hiroshi Shimizu, MD, PhD
- Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Eli Sprecher, MD, PhD
- Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
Maurice Van Steensel, MD, PhD
- Department of Dermatology, Maastricht University Medical Center and GROW Research School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands
Alain Taïeb, MD
- Department of Dermatology and Pediatric Dermatology, National Reference Center for Rare Skin Diseases, Hôpital St André, Bordeaux, France
Jorge R. Toro, MD
- Genetics Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland
Pierre Vabres, MD
- Université de Bourgogne, Department of Dermatology, Hôpital du Bocage, Dijon, France
Anders Vahlquist, MD, PhD
- Department of Medical Sciences, Dermatology and Venereology, Uppsala University, Uppsala, Sweden
Mary Williams, MD
- University of California, San Francisco, California
Heiko Traupe, MD
- Department of Dermatology, University Hospital Münster, Münster, Germany

Received in revised form 30 October 2009; accepted 17 November 2009. published online 20 July 2010.
Corrected Proof

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 Sorèze, 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.

Key words: autosomal recessive congenital ichthyosis, epidermolytic ichthyosis, genetics, histology, keratinopathic ichthyosis, mendelian disorders of cornification, superficial epidermolytic ichthyosis, ultrastructure

Abbreviations used: ARCI, autosomal recessive congenital ichthyosis, CDPX2, chondrodysplasia punctata type 2, CIE, congenital ichthyosiform erythroderma, EI, epidermolytic ichthyosis, EKV, erythrokeratodermia variabilis, EM, electron microscopy, HI, harlequin ichthyosis, IV, ichthyosis vulgaris, KPI, keratinopathic ichthyosis, LB, lamellar body, LI, lamellar ichthyosis, MEDOC, mendelian disorders of cornification, NS, Netherton syndrome, PPK, palmoplantar keratoderma, RXLI, recessive X-linked ichthyosis, SC, stratum corneum, SG, stratum granulosum, TGase, transglutaminase, TTD, trichothiodystrophy

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.).

Conflicts of interest: None declared.

PII: S0190-9622(09)01487-X

doi:10.1016/j.jaad.2009.11.020

« BackJournal of the American Academy of Dermatology