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Upregulation of interleukin‐33 in the epidermis of two Japanese patients with Netherton syndrome
Author(s) -
Konishi Tomoko,
Tsuda Tatsuya,
Sakaguchi Yoshiko,
Imai Yasutomo,
Ito Takashi,
Hirota Seiichi,
Yamanishi Kiyofumi
Publication year - 2014
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 - 10.1111/1346-8138.12410
Subject(s) - desquamation , atopic dermatitis , downregulation and upregulation , epidermis (zoology) , erythroderma , medicine , pathology , immunology , dermatology , biology , gene , genetics , anatomy
Netherton syndrome ( NS ) is a rare autosomal recessive disorder which is caused by mutations in the SPINK 5 gene encoding the serine‐protease inhibitor LEKTI . Characteristic symptoms of NS include erythroderma with diffuse desquamation, hair abnormalities and atopic manifestations. Here, we report two Japanese patients with NS , one of whom had a novel mutation in the SPINK 5 gene which leads to p.C367Lfs*3. The upregulation of interleukin‐33 ( IL ‐33) was evident in basal and thickened lower spinous layers of the epidermis in those cases. This suggests that IL ‐33 may be involved in the pathophysiology of NS as well as in atopic dermatitis.