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  • Title: Pathogenesis-directed treatment of linear porokeratosis with topical cholesterol-lovastatin.
    Author: Maredia H, Hand JL, Tollefson MM.
    Journal: Pediatr Dermatol; 2024; 41(2):296-297. PubMed ID: 37726979.
    Abstract:
    A 2-year-old boy presented with an extensive, asymptomatic, photosensitive eruption refractory to topical steroids and tretinoin; examination and biopsies were consistent with generalized linear porokeratosis involving the face, limbs, and trunk. Treatment with topical cholesterol-lovastatin was initiated, and it successfully improved early erythematous lesions. Whole exome sequencing that targeted mevalonate pathway genes crucial in cholesterol synthesis later revealed a pathogenic, paternally inherited, porokeratosis-associated MVD, c.70+5 G>A, mutation. Topical cholesterol-lovastatin is a safe and effective empiric treatment for porokeratosis when used in the early, erythematous phase, and its success is likely mediated through its role in targeting mevalonate pathway mutations.
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