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, Gabriele Richard, Matthias Schmuth, Hiroshi Shimizu, Eli Sprecher, Maurice Van Steensel, Alain Taïeb, Jorge R. Toro, Pierre Vabres, Anders Vahlquist, Mary Williams, Heiko Traupe

Research output: Contribution to journalArticle

362 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 - Oct 2010

Fingerprint

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

Keywords

  • autosomal recessive congenital ichthyosis
  • epidermolytic ichthyosis
  • genetics
  • histology
  • keratinopathic ichthyosis
  • mendelian disorders of cornification
  • superficial epidermolytic ichthyosis
  • ultrastructure

ASJC Scopus subject areas

  • Dermatology
  • Medicine(all)

Cite this

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, Gabriele; Schmuth, Matthias; Shimizu, Hiroshi; Sprecher, Eli; Van Steensel, Maurice; Taïeb, Alain; Toro, Jorge R.; Vabres, Pierre; Vahlquist, Anders; Williams, Mary; Traupe, Heiko.

In: Journal of the American Academy of Dermatology, Vol. 63, No. 4, 10.2010, p. 607-641.

Research output: Contribution to journalArticle

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
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, Gabriele ; Schmuth, Matthias ; Shimizu, Hiroshi ; Sprecher, Eli ; Van Steensel, Maurice ; Taïeb, Alain ; Toro, Jorge R. ; Vabres, Pierre ; Vahlquist, Anders ; Williams, Mary ; Traupe, Heiko. / 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.
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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.",
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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 Gabriele Richard and Matthias 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 Heiko Traupe",
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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, Gabriele

AU - Schmuth, Matthias

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, Heiko

PY - 2010/10

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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.

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KW - keratinopathic ichthyosis

KW - mendelian disorders of cornification

KW - superficial epidermolytic ichthyosis

KW - ultrastructure

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