Second-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 ResearchConceptsLinear 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 lossRadiation-induced morphea: Association with autoimmune comorbidities, severity, and response to therapy
Mittal A, Mittal V, Panse G, Choi JN, Kwong BY, Leventhal JS. Radiation-induced morphea: Association with autoimmune comorbidities, severity, and response to therapy. Journal Of The American Academy Of Dermatology 2019, 81: 260-262. PMID: 30797843, DOI: 10.1016/j.jaad.2019.02.039.Peer-Reviewed Original Research