Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy
Atzmony L, Lim YH, Hamilton C, Leventhal JS, Wagner A, Paller AS, Choate KA. Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. Journal Of The American Academy Of Dermatology 2019, 82: 123-131. PMID: 31449901, PMCID: PMC7039698, DOI: 10.1016/j.jaad.2019.08.043.Peer-Reviewed Original ResearchMeSH KeywordsAdministration, CutaneousAdultAnticholesteremic AgentsCarboxy-LyasesChild, PreschoolCholesterolDrug CombinationsGenotypeHumansLovastatinMiddle AgedMutationOintmentsPhosphotransferases (Phosphate Group Acceptor)PorokeratosisYoung AdultConceptsPorokeratosis lesionsPorokeratosis palmaris et plantaris disseminataPathogenesis-directed therapyTreatment of porokeratosisWeeks of therapyInitiation of therapyPathway gene mutationsDisseminated superficial actinic porokeratosisPathogenesis-based therapiesCase series designSuperficial actinic porokeratosisAdverse eventsTopical therapyTherapeutic optionsComplete clearanceLinear porokeratosisPatientsActinic porokeratosisTherapyPorokeratosisLesionsGene mutationsModerate improvementLovastatinToxic metabolitesSecond-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis
Atzmony L, Khan HM, Lim YH, Paller AS, Levinsohn JL, Holland KE, Mirza FN, Yin E, Ko CJ, Leventhal JS, Choate KA. Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. JAMA Dermatology 2019, 155: 548-555. PMID: 30942823, PMCID: PMC6506890, DOI: 10.1001/jamadermatol.2019.0016.Peer-Reviewed Original ResearchMeSH KeywordsAcademic Medical CentersChild, PreschoolDNA Copy Number VariationsDNA Mutational AnalysisExome SequencingGerm-Line MutationHumansMalePhosphotransferases (Phosphate Group Acceptor)PorokeratosisSampling StudiesSensitivity and SpecificityYoung AdultConceptsLinear porokeratosisLesional skinWhole-exome sequencingAffected tissue samplesSomatic copy-neutral lossAcademic medical centerLines of BlaschkoSomatic mutationsT mutationNovel germline mutationPostzygotic somatic mutationsNovel somatic mutationsCoronoid lamellaBlood/saliva samplesGermline splice site mutationHistologic diagnosisHistologic examinationKeratotic papulesMedical CenterMAIN OUTCOMEAffected skinTherapeutic interventionsPorokeratosisWhorled configurationCopy-neutral loss