Revised nomenclature and classification of inherited ichthyoses

Results of the First Ichthyosis Consensus Conference in Sorze 2009

Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, Claudine Blanchet Bardon, Christine Bodemer, Emmanuelle Bourrat, Philippe Coudiere, John J. Digiovanna, Peter Elias, Judith Fischer, Philip Fleckman, Michal Gina, John Harper, Takashi Hashimoto, Ingrid Hausser, Hans Christian Hennies, Daniel Hohl, Alain Hovnanian, Akemi Ishida-Yamamoto, Witold K. Jacyk & 17 others Sancy Leachman, Irene Leigh, Juliette Mazereeuw-Hautier, Leonard Milstone, Fanny Morice-Picard, Amy S. Paller, Gabrielle Richard, Mathias Schmuth, Hiroshi Shimizu, Eli Sprecher, Maurice van Steensel, Alain Taïeb, Jorge R. Toro, Pierre Vabres, Anders Vahlquist, Mary Williams, H. Traupe

    Research output: Contribution to journalArticle

    358 Citations (Scopus)

    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 languageEnglish
    Pages (from-to)607-641
    Number of pages35
    JournalJournal of the American Academy of Dermatology
    Volume63
    Issue number4
    DOIs
    Publication statusPublished - 2010

    Fingerprint

    Ichthyosis
    Terminology
    Epidermolytic Hyperkeratosis
    Lamellar Ichthyosis
    Congenital Ichthyosiform Erythroderma
    Keratins
    France
    Names
    Skin
    Mutation

    Cite this

    Oji, Vinzenz ; Tadini, Gianluca ; Akiyama, Masashi ; Blanchet Bardon, Claudine ; Bodemer, Christine ; Bourrat, Emmanuelle ; Coudiere, Philippe ; Digiovanna, John J. ; Elias, Peter ; Fischer, Judith ; Fleckman, Philip ; Gina, Michal ; Harper, John ; Hashimoto, Takashi ; Hausser, Ingrid ; Hennies, Hans Christian ; Hohl, Daniel ; Hovnanian, Alain ; Ishida-Yamamoto, Akemi ; Jacyk, Witold K. ; Leachman, Sancy ; Leigh, Irene ; Mazereeuw-Hautier, Juliette ; Milstone, Leonard ; Morice-Picard, Fanny ; Paller, Amy S. ; Richard, Gabrielle ; Schmuth, Mathias ; Shimizu, Hiroshi ; Sprecher, Eli ; van Steensel, Maurice ; Taïeb, Alain ; Toro, Jorge R. ; Vabres, Pierre ; Vahlquist, Anders ; Williams, Mary ; Traupe, H. / Revised nomenclature and classification of inherited ichthyoses : Results of the First Ichthyosis Consensus Conference in Sorze 2009. In: Journal of the American Academy of Dermatology. 2010 ; Vol. 63, No. 4. pp. 607-641.
    @article{231ba8ffa4e84c5bbd9233e05d55cbbf,
    title = "Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorze 2009",
    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.",
    author = "Vinzenz Oji and Gianluca Tadini and Masashi Akiyama and {Blanchet Bardon}, Claudine and Christine Bodemer and Emmanuelle Bourrat and Philippe Coudiere and Digiovanna, {John J.} and Peter Elias and Judith Fischer and Philip Fleckman and Michal Gina and John Harper and Takashi Hashimoto and Ingrid Hausser and Hennies, {Hans Christian} and Daniel Hohl and Alain Hovnanian and Akemi Ishida-Yamamoto and Jacyk, {Witold K.} and Sancy Leachman and Irene Leigh and Juliette Mazereeuw-Hautier and Leonard Milstone and Fanny Morice-Picard and Paller, {Amy S.} and Gabrielle Richard and Mathias Schmuth and Hiroshi Shimizu and Eli Sprecher and {van Steensel}, Maurice and Alain Ta{\"i}eb and Toro, {Jorge R.} and Pierre Vabres and Anders Vahlquist and Mary Williams and H. Traupe",
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    year = "2010",
    doi = "10.1016/j.jaad.2009.11.020",
    language = "English",
    volume = "63",
    pages = "607--641",
    journal = "Journal of the American Academy of Dermatology",
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    Oji, V, Tadini, G, Akiyama, M, Blanchet Bardon, C, Bodemer, C, Bourrat, E, Coudiere, P, Digiovanna, JJ, Elias, P, Fischer, J, Fleckman, P, Gina, M, Harper, J, Hashimoto, T, Hausser, I, Hennies, HC, Hohl, D, Hovnanian, A, Ishida-Yamamoto, A, Jacyk, WK, Leachman, S, Leigh, I, Mazereeuw-Hautier, J, Milstone, L, Morice-Picard, F, Paller, AS, Richard, G, Schmuth, M, Shimizu, H, Sprecher, E, van Steensel, M, Taïeb, A, Toro, JR, Vabres, P, Vahlquist, A, Williams, M & Traupe, H 2010, 'Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorze 2009', Journal of the American Academy of Dermatology, vol. 63, no. 4, pp. 607-641. https://doi.org/10.1016/j.jaad.2009.11.020

    Revised nomenclature and classification of inherited ichthyoses : Results of the First Ichthyosis Consensus Conference in Sorze 2009. / Oji, Vinzenz; Tadini, Gianluca; Akiyama, Masashi; Blanchet Bardon, Claudine; Bodemer, Christine; Bourrat, Emmanuelle; Coudiere, Philippe; Digiovanna, John J.; Elias, Peter; Fischer, Judith; Fleckman, Philip; Gina, Michal; Harper, John; Hashimoto, Takashi; Hausser, Ingrid; Hennies, Hans Christian; Hohl, Daniel; Hovnanian, Alain; Ishida-Yamamoto, Akemi; Jacyk, Witold K.; Leachman, Sancy; Leigh, Irene; Mazereeuw-Hautier, Juliette; Milstone, Leonard; Morice-Picard, Fanny; Paller, Amy S.; Richard, Gabrielle; Schmuth, Mathias; Shimizu, Hiroshi; Sprecher, Eli; van Steensel, Maurice; Taïeb, Alain; Toro, Jorge R.; Vabres, Pierre; Vahlquist, Anders; Williams, Mary; Traupe, H.

    In: Journal of the American Academy of Dermatology, Vol. 63, No. 4, 2010, p. 607-641.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Revised nomenclature and classification of inherited ichthyoses

    T2 - Results of the First Ichthyosis Consensus Conference in Sorze 2009

    AU - Oji, Vinzenz

    AU - Tadini, Gianluca

    AU - Akiyama, Masashi

    AU - Blanchet Bardon, Claudine

    AU - Bodemer, Christine

    AU - Bourrat, Emmanuelle

    AU - Coudiere, Philippe

    AU - Digiovanna, John J.

    AU - Elias, Peter

    AU - Fischer, Judith

    AU - Fleckman, Philip

    AU - Gina, Michal

    AU - Harper, John

    AU - Hashimoto, Takashi

    AU - Hausser, Ingrid

    AU - Hennies, Hans Christian

    AU - Hohl, Daniel

    AU - Hovnanian, Alain

    AU - Ishida-Yamamoto, Akemi

    AU - Jacyk, Witold K.

    AU - Leachman, Sancy

    AU - Leigh, Irene

    AU - Mazereeuw-Hautier, Juliette

    AU - Milstone, Leonard

    AU - Morice-Picard, Fanny

    AU - Paller, Amy S.

    AU - Richard, Gabrielle

    AU - Schmuth, Mathias

    AU - Shimizu, Hiroshi

    AU - Sprecher, Eli

    AU - van Steensel, Maurice

    AU - Taïeb, Alain

    AU - Toro, Jorge R.

    AU - Vabres, Pierre

    AU - Vahlquist, Anders

    AU - Williams, Mary

    AU - Traupe, H.

    N1 - MEDLINE® is the source for the MeSH terms of this document.

    PY - 2010

    Y1 - 2010

    N2 - 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.

    AB - 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.

    UR - http://www.scopus.com/inward/record.url?scp=77952700774&partnerID=8YFLogxK

    U2 - 10.1016/j.jaad.2009.11.020

    DO - 10.1016/j.jaad.2009.11.020

    M3 - Article

    VL - 63

    SP - 607

    EP - 641

    JO - Journal of the American Academy of Dermatology

    JF - Journal of the American Academy of Dermatology

    SN - 0190-9622

    IS - 4

    ER -