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Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin

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Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin. / Akiyama, Masashi; Takeichi, Takuya; McGrath, John A.; Sugiura, Kazumitsu.

In: Journal of Dermatological Science, 01.02.2018.

Research output: Contribution to journalArticlepeer-review

Harvard

Akiyama, M, Takeichi, T, McGrath, JA & Sugiura, K 2018, 'Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin', Journal of Dermatological Science. https://doi.org/10.1016/j.jdermsci.2018.01.012

APA

Akiyama, M., Takeichi, T., McGrath, J. A., & Sugiura, K. (2018). Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin. Journal of Dermatological Science. https://doi.org/10.1016/j.jdermsci.2018.01.012

Vancouver

Akiyama M, Takeichi T, McGrath JA, Sugiura K. Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin. Journal of Dermatological Science. 2018 Feb 1. https://doi.org/10.1016/j.jdermsci.2018.01.012

Author

Akiyama, Masashi ; Takeichi, Takuya ; McGrath, John A. ; Sugiura, Kazumitsu. / Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin. In: Journal of Dermatological Science. 2018.

Bibtex Download

@article{4ea24a0199034459a66f3deb1eab45ed,
title = "Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin",
abstract = "Classifying inflammatory skin diseases is challenging, especially for the expanding group of disorders triggered by genetic factors resulting in hyperactivated innate immunity that result in overlapping patterns of dermal and epidermal inflammation with hyperkeratosis. For such conditions, the umbrella term “autoinflammatory keratinization diseases” (AIKD) has been proposed. AIKD encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity, and includes IL-36 receptor antagonist (IL-36Ra)-related pustulosis, CARD14-mediated pustular psoriasis, pityriasis rubra pilaris (PRP) type V, and familial keratosis lichenoides chronica (KLC). Mechanistically, the entities include generalized pustular psoriasis (GPP) without psoriasis vulgaris, impetigo herpetiformis and acrodermatitis continua, which are IL-36Ra-related pustuloses caused by loss-of-function mutations in IL36RN; GPP with psoriasis vulgaris and palmoplantar pustular psoriasis which are CARD14-mediated pustular psoriasiform dermatoses with gain-of-function variants of CARD14; PRP type V which is caused by gain-of-function mutations in CARD14; and, familial KLC in which mutations in NLRP1, an inflammasome sensor protein predominantly expressed in skin, have been identified. It is likely that further inflammatory keratinization disorders will also fall within the concept of AIKD, as elucidation of novel pathogenic mechanisms of inflammatory keratinization diseases emerge. A better understanding of the pathophysiology of AIKD is likely to lead to innovative, targeted therapies that benefit patients.",
keywords = "autoinflammation, CARD14, IL-36 receptor antagonist, keratinization, keratosis lichenoides chronica, NLRP1, pityriasis rubra pilaris, psoriasis, psoriatic arthritis, pustular psoriasis",
author = "Masashi Akiyama and Takuya Takeichi and McGrath, {John A.} and Kazumitsu Sugiura",
year = "2018",
month = feb,
day = "1",
doi = "10.1016/j.jdermsci.2018.01.012",
language = "English",
journal = "Journal of Dermatological Science",
issn = "0923-1811",
publisher = "Elsevier Ireland Ltd",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin

AU - Akiyama, Masashi

AU - Takeichi, Takuya

AU - McGrath, John A.

AU - Sugiura, Kazumitsu

PY - 2018/2/1

Y1 - 2018/2/1

N2 - Classifying inflammatory skin diseases is challenging, especially for the expanding group of disorders triggered by genetic factors resulting in hyperactivated innate immunity that result in overlapping patterns of dermal and epidermal inflammation with hyperkeratosis. For such conditions, the umbrella term “autoinflammatory keratinization diseases” (AIKD) has been proposed. AIKD encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity, and includes IL-36 receptor antagonist (IL-36Ra)-related pustulosis, CARD14-mediated pustular psoriasis, pityriasis rubra pilaris (PRP) type V, and familial keratosis lichenoides chronica (KLC). Mechanistically, the entities include generalized pustular psoriasis (GPP) without psoriasis vulgaris, impetigo herpetiformis and acrodermatitis continua, which are IL-36Ra-related pustuloses caused by loss-of-function mutations in IL36RN; GPP with psoriasis vulgaris and palmoplantar pustular psoriasis which are CARD14-mediated pustular psoriasiform dermatoses with gain-of-function variants of CARD14; PRP type V which is caused by gain-of-function mutations in CARD14; and, familial KLC in which mutations in NLRP1, an inflammasome sensor protein predominantly expressed in skin, have been identified. It is likely that further inflammatory keratinization disorders will also fall within the concept of AIKD, as elucidation of novel pathogenic mechanisms of inflammatory keratinization diseases emerge. A better understanding of the pathophysiology of AIKD is likely to lead to innovative, targeted therapies that benefit patients.

AB - Classifying inflammatory skin diseases is challenging, especially for the expanding group of disorders triggered by genetic factors resulting in hyperactivated innate immunity that result in overlapping patterns of dermal and epidermal inflammation with hyperkeratosis. For such conditions, the umbrella term “autoinflammatory keratinization diseases” (AIKD) has been proposed. AIKD encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity, and includes IL-36 receptor antagonist (IL-36Ra)-related pustulosis, CARD14-mediated pustular psoriasis, pityriasis rubra pilaris (PRP) type V, and familial keratosis lichenoides chronica (KLC). Mechanistically, the entities include generalized pustular psoriasis (GPP) without psoriasis vulgaris, impetigo herpetiformis and acrodermatitis continua, which are IL-36Ra-related pustuloses caused by loss-of-function mutations in IL36RN; GPP with psoriasis vulgaris and palmoplantar pustular psoriasis which are CARD14-mediated pustular psoriasiform dermatoses with gain-of-function variants of CARD14; PRP type V which is caused by gain-of-function mutations in CARD14; and, familial KLC in which mutations in NLRP1, an inflammasome sensor protein predominantly expressed in skin, have been identified. It is likely that further inflammatory keratinization disorders will also fall within the concept of AIKD, as elucidation of novel pathogenic mechanisms of inflammatory keratinization diseases emerge. A better understanding of the pathophysiology of AIKD is likely to lead to innovative, targeted therapies that benefit patients.

KW - autoinflammation

KW - CARD14

KW - IL-36 receptor antagonist

KW - keratinization

KW - keratosis lichenoides chronica

KW - NLRP1

KW - pityriasis rubra pilaris

KW - psoriasis

KW - psoriatic arthritis

KW - pustular psoriasis

U2 - 10.1016/j.jdermsci.2018.01.012

DO - 10.1016/j.jdermsci.2018.01.012

M3 - Article

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

SN - 0923-1811

ER -

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