@article{oai:repository.lib.tottori-u.ac.jp:00004783,
 author = {Okazaki, Tetsuya and Okazaki, Tetsuya and Saito, Yoshiaki and Saito, Yoshiaki and Sugita, Kazunari and Sugita, Kazunari and Nosaka, Kanae and Nosaka, Kanae and Ohno, Koyo and Hiraoka, Yumie and Kasagi, Noriko and Kasagi, Noriko and Ebiki, Mitsutaka and Narai, Satoshi and Kawashima, Yuki and Kawashima, Yuki and Takano, Shuichi and Takano, Shuichi and Kai, Masachika and Adachi, Kaori and Yamamoto, Osamu and Yamamoto, Osamu and Nanba, Eiji and Maegaki, Yoshihiro and Maegaki, Yoshihiro and Ohno, Koyo and Hiraoka, Yumie and Ebiki, Mitsutaka and Narai, Satoshi and Kai, Masachika and Adachi, Kaori and Nanba, Eiji},
 issue = {1},
 journal = {Yonago Acta Medica, Yonago Acta Medica},
 month = {Mar},
 note = {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.},
 pages = {159--162},
 title = {Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation},
 volume = {62},
 year = {2019},
 yomi = {オカザキ, テツヤ and サイトウ, ヨシアキ and スギタ, カズナリ and ノサカ, カナエ and カサギ, ノリコ and カワシマ, ユキ and タカノ, シュウイチ and カイ, マサチカ and ヤマモト, オサム and マエガキ, ヨシヒロ and カイ, マサチカ}
}