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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437419 | PMC |
| http://dx.doi.org/10.33160/yam.2019.03.022 | DOI Listing |
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