フルテキストファイル
著者
Okazaki Tetsuya Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital 研究者総覧 KAKEN
Saito Yoshiaki Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine 研究者総覧 KAKEN
Sugita Kazunari Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine 研究者総覧 KAKEN
Nosaka Kanae Division of Organ Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine 研究者総覧
Ohno Koyo Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine
Hiraoka Yumie Department of Clinical Genetics, Tottori University Hospital
Kasagi Noriko Department of Clinical Genetics, Tottori University Hospital 研究者総覧 KAKEN
Ebiki Mitsutaka 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
Narai Satoshi Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine
Kawashima Yuki Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine 研究者総覧 KAKEN
Takano Shuichi Division of Surgical Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine 研究者総覧
Kai Masachika Division of Technical Department, Tottori University
Adachi Kaori Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University
Yamamoto Osamu Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine 研究者総覧 KAKEN
Nanba Eiji Department of Clinical Genetics, Tottori University Hospital/Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University
Maegaki Yoshihiro Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital 研究者総覧 KAKEN
キーワード
erythema nodosum
loose anagen hair
next-generation sequencing
Noonan syndrome
SHOC2
抄録
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.
出版者
Tottori University Medical Press
資料タイプ
学術雑誌論文
外部リンク
ISSN・ISBN
05135710
書誌ID
AA00892882
掲載誌名
Yonago Acta Medica
最新掲載誌名
Yonago Acta Medica
62
1
開始ページ
159
終了ページ
162
発行日
2019-03-28
出版者DOI
著者版フラグ
出版社版
著作権表記
注があるものを除き、この著作物は日本国著作権法により保護されています。 / This work is protected under Japanese Copyright Law unless otherwise noted.
掲載情報
Yonago Acta Medica. 2019, 62(1), 159-162
部局名
医学部・医学系研究科・医学部附属病院
言語
英語