Abstract |
Netherton syndrome (NS) is a rare autosomal recessive disorder which is caused by mutations in the SPINK5 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 SPINK5 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.
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Authors | Tomoko Konishi, Tatsuya Tsuda, Yoshiko Sakaguchi, Yasutomo Imai, Takashi Ito, Seiichi Hirota, Kiyofumi Yamanishi |
Journal | The Journal of dermatology
(J Dermatol)
Vol. 41
Issue 3
Pg. 258-61
(Mar 2014)
ISSN: 1346-8138 [Electronic] England |
PMID | 24506793
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2014 Japanese Dermatological Association. |
Chemical References |
- IL33 protein, human
- Interleukin-33
- Interleukins
- Proteinase Inhibitory Proteins, Secretory
- SPINK5 protein, human
- Serine Peptidase Inhibitor Kazal-Type 5
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Topics |
- Epidermis
(metabolism, pathology)
- Female
- Humans
- Infant, Newborn
- Infant, Premature
- Interleukin-33
- Interleukins
(metabolism)
- Netherton Syndrome
(genetics, metabolism, pathology)
- Proteinase Inhibitory Proteins, Secretory
(genetics)
- Serine Peptidase Inhibitor Kazal-Type 5
- Up-Regulation
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