Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation

Tetsuya Okazaki; Yoshiaki Saito; Kazunari Sugita; Kanae Nosaka; Koyo Ohno; Yumie Hiraoka; Noriko Kasagi; Mitsutaka Ebiki; Satoshi Narai; Yuki Kawashima; Shuichi Takano; Masachika Kai; Kaori Adachi; Osamu Yamamoto; Eiji Nanba; Yoshihiro Maegaki

doi:10.33160/yam.2019.03.022

Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation

Yonago Acta Med. 2019 Mar 28;62(1):159-162. doi: 10.33160/yam.2019.03.022. eCollection 2019 Mar.

Authors

Tetsuya Okazaki^{1

2}, Yoshiaki Saito¹, Kazunari Sugita³, Kanae Nosaka⁴, Koyo Ohno¹, Yumie Hiraoka², Noriko Kasagi², Mitsutaka Ebiki^{5

6}, Satoshi Narai⁷, Yuki Kawashima⁷, Shuichi Takano⁸, Masachika Kai⁹, Kaori Adachi¹⁰, Osamu Yamamoto³, Eiji Nanba^{2

11}, Yoshihiro Maegaki^{1

2}

Affiliations

¹ Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan.
² †Department of Clinical Genetics, Tottori University Hospital, Yonago 683-8504, Japan.
³ ‡Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan.
⁴ §Division of Organ Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan.
⁵ ||The Development of Innovative Future Medical Treatment, Graduate School of Medical Sciences, Tottori University, Yonago 683-8504, Japan.
⁶ ¶KUSUNOKI - SCALE Incorporated, Yonago 683-0832, Japan.
⁷ *Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan.
⁸ ††Division of Surgical Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8504, Japan.
⁹ ‡‡Division of Technical Department, Tottori University, Yonago 683-8503, Japan.
¹⁰ §§Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago 683-8503, Japan.
¹¹ ||||Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University, Yonago 683-8503, Japan.

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.

Keywords: Noonan syndrome; SHOC2; erythema nodosum; loose anagen hair; next-generation sequencing.