Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis
Nelson Ugwu, Keith A. Choate, Lihi Atzmony
Abstract
Porokeratosis is a clonal disorder of keratinization associated with heterozygous mevalonate pathway gene mutations. Many clinical variants have been described, with disseminated superficial actinic porokeratosis being the most common one. Skin lesions result from somatic second-hit mutations in MVK, MVD, or PMVK, resulting in decreased expression of the respective enzymes.1,2 Enzyme deficiency is thought to lead to an insufficiency of the end product of the pathway, cholesterol, and the accumulation of upstream metabolites.
Topics & Concepts
PorokeratosisMedicineLovastatinPathogenesisMevalonate pathwayMutationDermatologyGenePathologyCholesterolGeneticsBiologyInternal medicineBiosynthesisGenetic and rare skin diseases.Hedgehog Signaling Pathway StudiesRNA regulation and disease