Autres domaines


Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009 - 24/04/13

Doi : 10.1016/j.jaad.2009.11.020 
Vinzenz Oji, MD a, , Gianluca Tadini, MD b, Masashi Akiyama, MD, PhD c, Claudine Blanchet Bardon, MD d, Christine Bodemer, MD, PhD e, Emmanuelle Bourrat, MD d, Philippe Coudiere, PharmD f, John J. DiGiovanna, MD g, Peter Elias, MD h, Judith Fischer, MD, PhD i, Philip Fleckman, MD j, Michal Gina, MD k, John Harper, MD, FCRCP, FRCPCH l, Takashi Hashimoto, MD m, Ingrid Hausser, PhD n, Hans Christian Hennies, PhD o, Daniel Hohl, MD, PhD k, Alain Hovnanian, MD, PhD p, q, Akemi Ishida-Yamamoto, MD, PhD r, Witold K. Jacyk, MD s, Sancy Leachman, MD, PhD t, Irene Leigh, MD, FRCP, FMedSci u, Juliette Mazereeuw-Hautier, MD, PhD v, Leonard Milstone, MD w, Fanny Morice-Picard, MD x, Amy S. Paller, MS, MD y, Gabriele Richard, MD, FACMG z, Matthias Schmuth, MD aa, bb, Hiroshi Shimizu, MD, PhD c, Eli Sprecher, MD, PhD cc, Maurice Van Steensel, MD, PhD dd, Alain Taïeb, MD x, Jorge R. Toro, MD ee, Pierre Vabres, MD ff, Anders Vahlquist, MD, PhD gg, Mary Williams, MD aa, Heiko Traupe, MD a
a Department of Dermatology, University Hospital Münster, Münster, Germany 
b Centro Malattie Cutanee Ereditarie, Istituto di Scienze Dermatologiche, Istituto Di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore, Milano, Italy 
c Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan 
d Department of Dermatology, Saint-Louis Hospital, Paris, France 
e Department of Dermatology, Necker Enfants Malades Hospital (Assistance Publique Hopitaux de Paris [APHP])–University Paris V, National Reference Centre for Genodermatoseis Centre de reference sur les Maladies Génétiques à Expression Cutanée, Paris, France 
f Pierre Fabre Dermatologie, Lavaur, France 
g Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert School of Medicine of Brown University, Providence, Rhode Island 
h Dermatology, Department of Veterans Affairs Medical Center, San Francisco, California 
i Centre National de Génotypage, Evry, France 
j Division of Dermatology, University of Washington, Seattle, Washington 
k Hospices Cantonaux–Centre Hospitalier, Universitaire Vaudois, Service de Dermatologie des Hospices, Lausanne, Switzerland 
l Great Ormond Street Children’s Hospital, London, United Kingdom 
m Department of Dermatology, Kurume University School of Medicine, Fukuoka, Japan 
n Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany 
o Cologne Center for Genomics, Division of Dermatogenetics, University of Cologne, Cologne, Germany 
p Departments of Genetics and Dermatology, Necker Enfants Malades Hospital (APHP)–University Paris V, Paris, France 
q Institut national de la santé et de la recherche médicale U781, Paris, France 
r Department of Dermatology, Asahikawa Medical College, Asahikawa, Japan 
s Department of Dermatology, University of Pretoria, Pretoria, South Africa 
t University of Utah Health Sciences Center, Salt Lake City, Utah 
u 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 
v Reference Center for Rare Skin Diseases, Department of Dermatology, Purpan Hospital, Toulouse, France 
w Yale University, New Haven, Connecticut 
x Department of Dermatology and Pediatric Dermatology, National Reference Center for Rare Skin Diseases, Hôpital St André, Bordeaux, France 
y Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois 
z GeneDx, Gaithersburg, Maryland 
aa University of California San Francisco, San Francisco, California 
bb Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria 
cc Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel 
dd Department of Dermatology, Maastricht University Medical Center and GROW Research School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands 
ee Genetics Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 
ff Université de Bourgogne, Department of Dermatology, Hôpital du Bocage, Dijon, France 
gg Department of Medical Sciences, Dermatology and Venereology, Uppsala University, Uppsala, Sweden 

Reprint requests: Vinzenz Oji, MD, Department of Dermatology, University Hospital Münster, Von-Esmarch-Str. 58, 48149 Münster, Germany.



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.


We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses.


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.


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.


As more becomes known about these diseases in the future, modifications will be needed.


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.

Le texte complet de cet article est disponible en PDF.

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

Abbreviations used : ARCI, CDPX2, CIE, EI, EKV, EM, HI, IV, KPI, LB, LI, MEDOC, NS, PPK, RXLI, SC, SG, TGase, TTD


 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.

© 2010  American Academy of Dermatology, Inc. Tous droits réservés.
Ajouter à ma bibliothèque Retirer de ma bibliothèque Imprimer

    Export citations

  • Fichier

  • Contenu

Vol 63 - N° 4

P. 607-641 - octobre 2010 Retour au numéro
Article précédent Article précédent
  • Use of warfarin therapy at a target international normalized ratio of 3.0 for cutaneous polyarteritis nodosa
  • Tamihiro Kawakami, Yoshinao Soma
| Article suivant Article suivant
  • Treatment of actinic cheilitis with the Er:YAG laser
  • Paul Armenores, Craig L. James, Patrick C. Walker, Shyamala C. Huilgol

Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.

Déjà abonné à cette revue ?

Mon compte

Plateformes Elsevier Masson

Déclaration CNIL

EM-CONSULTE.COM est déclaré à la CNIL, déclaration n° 1286925.

En application de la loi nº78-17 du 6 janvier 1978 relative à l'informatique, aux fichiers et aux libertés, vous disposez des droits d'opposition (art.26 de la loi), d'accès (art.34 à 38 de la loi), et de rectification (art.36 de la loi) des données vous concernant. Ainsi, vous pouvez exiger que soient rectifiées, complétées, clarifiées, mises à jour ou effacées les informations vous concernant qui sont inexactes, incomplètes, équivoques, périmées ou dont la collecte ou l'utilisation ou la conservation est interdite.
Les informations personnelles concernant les visiteurs de notre site, y compris leur identité, sont confidentielles.
Le responsable du site s'engage sur l'honneur à respecter les conditions légales de confidentialité applicables en France et à ne pas divulguer ces informations à des tiers.