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Authors
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 Researchers DB KAKEN
Saito, Yoshiaki Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine Researchers DB KAKEN
Sugita, Kazunari Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine Researchers DB KAKEN
Nosaka, Kanae Division of Organ Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine Researchers DB
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 Researchers DB 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 Researchers DB KAKEN
Takano, Shuichi Division of Surgical Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine Researchers DB
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 Researchers DB 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 Researchers DB KAKEN
Keywords
erythema nodosum
loose anagen hair
next-generation sequencing
Noonan syndrome
SHOC2
Abstract
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.
Publisher
Tottori University Medical Press
Content Type
Journal Article
Link
ISSN・ISBN
05135710
NCID
AA00892882
Journal Title
Yonago Acta Medica
Current Journal Title
Yonago Acta Medica
Volume
62
Issue
1
Start Page
159
End Page
162
Published Date
2019-03-28
Publisher-DOI
Text Version
Publisher
Rights
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.
Citation
Yonago Acta Medica. 2019, 62(1), 159-162
Department
Faculty of Medicine/Graduate School of Medical Sciences/University Hospital
Language
English