Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation

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 si...

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Bibliographic Details
Published in:Yonago acta medica 2019-03, Vol.62 (1), p.159-162
Main Authors: Okazaki, Tetsuya, Saito, Yoshiaki, Sugita, Kazunari, Nosaka, Kanae, Ohno, Koyo, Hiraoka, Yumie, Kasagi, Noriko, Ebiki, Mitsutaka, Narai, Satoshi, Kawashima, Yuki, Takano, Shuichi, Kai, Masachika, Adachi, Kaori, Yamamoto, Osamu, Nanba, Eiji, Maegaki, Yoshihiro
Format: Article
Language:English
Subjects:
Patient Report
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Summary: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 gene (c.4 A > G, p.S2G) was identified. Patients with a 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 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 mutations via autoinflammation and disturbance of epithelial stem cells.
ISSN:0513-5710
1346-8049
DOI:10.33160/yam.2019.03.022