| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2019-06-17 |
| タイトル |
|
|
タイトル |
Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
erythema nodosum |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
loose anagen hair |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
next-generation sequencing |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
Noonan syndrome |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
SHOC2 |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
erythema nodosum |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
loose anagen hair |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
next-generation sequencing |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Noonan syndrome |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
SHOC2 |
| 資源タイプ |
|
|
資源タイプ |
journal article |
| 著者 |
Okazaki, Tetsuya
Saito, Yoshiaki
Sugita, Kazunari
Nosaka, Kanae
Ohno, Koyo
Hiraoka, Yumie
Kasagi, Noriko
Ebiki, Mitsutaka
Narai, Satoshi
Kawashima, Yuki
Takano, Shuichi
Kai, Masachika
Adachi, Kaori
Yamamoto, Osamu
Nanba, Eiji
Maegaki, Yoshihiro
Ohno, Koyo
Hiraoka, Yumie
Ebiki, Mitsutaka
Narai, Satoshi
Kai, Masachika
Adachi, Kaori
Nanba, Eiji
|
| 著者所属 |
|
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital |
| 著者所属 |
|
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Division of Organ Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Department of Clinical Genetics, Tottori University Hospital |
| 著者所属 |
|
|
値 |
Department of Clinical Genetics, Tottori University Hospital |
| 著者所属 |
|
|
値 |
The Development of Innovative Future Medical Treatment, Graduate School of Medical Sciences, Tottori University/KUSUNOKI - SCALE Incorporated, Yonago 683-0832, Japan, **Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Division of Surgical Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Division of Technical Department, Tottori University |
| 著者所属 |
|
|
値 |
Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University |
| 著者所属 |
|
|
値 |
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属 |
|
|
値 |
Department of Clinical Genetics, Tottori University Hospital/Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University |
| 著者所属 |
|
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Organ Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Department of Clinical Genetics, Tottori University Hospital |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Department of Clinical Genetics, Tottori University Hospital |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
The Development of Innovative Future Medical Treatment, Graduate School of Medical Sciences, Tottori University/KUSUNOKI - SCALE Incorporated, Yonago 683-0832, Japan, **Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Surgical Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Technical Department, Tottori University |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Department of Clinical Genetics, Tottori University Hospital/Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital |
| 抄録 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
We report the case of a 6-year-old male who developed recurrent erythema nodosum (EN) at the age of 3 years. The patient exhibited hypertelorism, low-set ears, micrognathia, moderate intellectual disability, thin long fingers, loose anagen hair, and prominent palmoplantar wrinkles. A heterozygous single nucleotide variant in the SHOC2 gene (c.4 A > G, p.S2G) was identified. Patients with a SHOC2 mutation exhibit a unique combination of ectodermal abnormalities including darkly pigmented skin and loose anagen hair. This report is the first to describe EN in a patient with SHOC2 mutation, and to examine the patient’s hair using scanning electron microscopy. We hypothesize that the RAS/MAPK pathway is associated with the pathogenesis of cutaneous lesions in patients with SHOC2 mutations via autoinflammation and disturbance of epithelial stem cells. |
| 書誌情報 |
Yonago Acta Medica
en : Yonago Acta Medica
巻 62,
号 1,
p. 159-162,
発行日 2019-03-28
|
| 出版者 |
|
|
出版者 |
Tottori University Medical Press |
| ISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
05135710 |
| 書誌レコードID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00892882 |
| DOI |
|
|
関連タイプ |
isIdenticalTo |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.33160/yam.2019.03.022 |
| 権利 |
|
|
権利情報 |
Yonago Acta medica 編集委員会 |
| 情報源 |
|
|
|
関連名称 |
Yonago Acta Medica. 2019, 62(1), 159-162 |
| 関連サイト |
|
|
|
識別子タイプ |
URI |
|
|
関連識別子 |
https://www.jstage.jst.go.jp/article/yam/62/1/62_2019.03.022/_article/-char/en |
|
|
関連名称 |
https://www.jstage.jst.go.jp/article/yam/62/1/62_2019.03.022/_article/-char/en |
| 関連サイト |
|
|
|
識別子タイプ |
URI |
|
|
関連識別子 |
http://www.lib.tottori-u.ac.jp/yam/yam/yam62-1/62-1contents.html |
|
|
関連名称 |
http://www.lib.tottori-u.ac.jp/yam/yam/yam62-1/62-1contents.html |
| 著者版フラグ |
|
|
出版タイプ |
VoR |
| EISSN |
|
|
値 |
1346-8049 |
yam62(1)_159.pdf (2.1 MB)
