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

6533b835fe1ef96bd12a0002

RESEARCH PRODUCT

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

Jorge R. Toro Akemi Ishida-yamamoto Amy S. Paller Gabriele Richard Matthias Schmuth Matthias Schmuth Hiroshi Shimizu W. K. Jacyk Claudine Blanchet Bardon Pierre Vabres Sancy A. Leachman Michal Gina Vinzenz Oji Philip Fleckman Alain Taieb Christine Bodemer Philippe Coudiere Fanny Morice-picard Juliette Mazereeuw-hautier Peter M. Elias John I. Harper Gianluca Tadini Emmanuelle Bourrat Judith Fischer Masashi Akiyama Daniel Hohl Mary L. Williams Leonard M. Milstone Hans Christian Hennies Eli Sprecher John J. Digiovanna Heiko Traupe Anders Vahlquist Ingrid Hausser Takashi Hashimoto Maurice A.m. Van Steensel Alain Hovnanian Alain Hovnanian Irene M. Leigh

subject

Adult Male medicine.medical_specialty Congenital ichthyosiform erythroderma Adolescent autosomal recessive congenital ichthyosis Dermatology Severity of Illness Index histology mendelian disorders of cornification Young Adult CYP4F22 Terminology as Topic Congenital ichthyosis Medicine Humans Genetic Predisposition to Disease genetics ABCA12 Child biology business.industry Ichthyosis Infant Newborn Ichthyosis Infant keratinopathic ichthyosis Lamellar ichthyosis Harlequin Ichthyosis Congresses as Topic Ichthyosiform Erythroderma Congenital epidermolytic ichthyosis medicine.disease Prognosis Dermatology ultrastructure Gene Expression Regulation Practice Guidelines as Topic biology.protein Female Dermatologic Agents France superficial epidermolytic ichthyosis business Ichthyosis vulgaris

description

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 Soreze, 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. (I Am Acad Dermatol 2010;63:607-41.)

year	journal	country	edition	language
2010-10-01	Journal of the American Academy of Dermatology

10.1016/j.jaad.2009.11.020 https://doi.org/10.1016/j.jaad.2009.11.020