2024-03-28T14:06:27Z
https://nagoya.repo.nii.ac.jp/oai
oai:nagoya.repo.nii.ac.jp:00026357
2023-01-16T04:16:05Z
499:500:501
Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin
Akiyama, Masashi
85223
Takeichi, Takuya
85224
McGrath, John A.
85225
Sugiura, Kazumitsu
85226
Autoinflammation
CARD14
IL-36 receptor antagonist
Keratinization
Keratosis lichenoides chronica
NLRP1
Pityriasis rubra pilaris
Psoriasis
Psoriatic arthritis
Pustular psoriasis
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 emerges. A better understanding of the pathophysiology of AIKD is likely to lead to innovative, targeted therapies that benefit patients.
ファイル公開:2019-05-01
journal article
Elsevier
2018-05
application/pdf
Journal of Dermatological Science
2
90
105
111
0923-1811
https://nagoya.repo.nii.ac.jp/record/26357/files/Akiyama_JDS_Revision2018.pdf
eng
https://doi.org/10.1016/j.jdermsci.2018.01.012
© 2018. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/