
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis
Porokeratosis encompasses a group of keratinization disorders with distinct clinical variants, including porokeratosis of Mibelli, disseminated superficial actinic porokeratosis, porokeratosis plantaris, palmaris et disseminata, and linear porokeratosis (LP).1 Familial porokeratosis has been associated with pathogenic variants in genes of the mevalonate pathway (such as MVK, PMVK, MVD, and FDPS), a vital metabolic pathway responsible for synthesizing sterols and isoprenoid metabolites.1, 2, 3