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Novel IL 36 RN mutation in a J apanese case of early onset generalized pustular psoriasis
Author(s) -
Kanazawa Nobuo,
Nakamura Tomoyuki,
Mikita Naoya,
Furukawa Fukumi
Publication year - 2013
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.12227
Subject(s) - generalized pustular psoriasis , missense mutation , psoriasis , medicine , pustular psoriasis , interleukin 1 receptor antagonist , pustulosis , mutation , immunology , dermatology , gene , receptor antagonist , receptor , antagonist , biology , arthritis , genetics , synovitis
Generalized pustular psoriasis is a distinct type of psoriasis characterized by recurrent febrile attacks with disseminated subcorneal pustules on generalized skin rashes. Recently, homozygous and compound heterozygous mutations of the IL 36 RN gene, which encodes the anti‐inflammatory cytokine interleukin (IL)‐36 receptor antagonist, were identified in familial and sporadic cases of various ethnicities with generalized pustular psoriasis. Here we report a 39‐year‐old J apanese male patient who had suffered from repeated attacks of generalized pustular psoriasis since infancy with intervals of several years. At presentation, erythematous lesions with a few pustules were found only on some parts of the body and controlled with topical corticosteroids. An analysis of the IL 36 RN gene revealed compound heterozygous mutations of c.28 C > T and c.368 C > T . While the former mutation causing the premature termination p. A rg10 X is recurrent in J apanese cases, the latter missense mutation causing p. T hr123 M et substitution is novel, but another mutation in the same position has been reported in one J apanese case. Our report further supports the presence of the J apanese‐specific hot spots in the IL 36 RN gene, 28 C and 368 C , and suggests the functional significance of T hr123. This special type of generalized pustular psoriasis caused by IL 36 RN mutations has been designated as deficiency for IL‐36 receptor antagonist, a new hereditary autoinflammatory disease, and its phenotypes have emerged to include other related pustular disorders, palmoplantar pustulosis, acrodermatitis continua of H allopeau, and acute generalized exanthematous pustulosis. The genetic analysis of the cases with these diseases would be important for establishment and application of the specific treatments targeting the IL ‐36 signaling.