Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation

[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 hete...

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Bibliographic Details
Published in:YONAGO ACTA MEDICA 2019, Vol.62 (1), p.159-162
Main Authors: 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
Format: Article
Language:Japanese
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Summary:[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.
ISSN:0513-5710