Abstract
We report a case involving a 12-year-old female patient with linear porokeratosis (LP) associated with the PMVK pathogenic variant c.329C>A, p.R110Q (monoallelic in DNA from blood and biallelic in DNA from LP). Therapeutic measures, which included a statin/cholesterol cream, did not ameliorate the patient’s skin lesions. Our findings demonstrate a strong interleukin (IL)-17A-positive inflammatory infiltrate, upregulation of IL-17-responsive genes and a significant clinical response to anti-IL-17A therapy in LP.
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