2022
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders
Atzmony L, Ugwu N, Hamilton C, Paller A, Zech L, Antaya R, Choate K. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. Pediatric Dermatology 2022, 39: 903-907. PMID: 35853659, PMCID: PMC9712156, DOI: 10.1111/pde.15094.Peer-Reviewed Original ResearchConceptsInflammatory linear verrucous epidermal nevusVerrucous epidermal nevusEpidermal nevusCARD14 mutationsHotspot mutationsLinear verrucous epidermal nevusPathogenesis-directed therapyCohort of patientsErythematous scaly plaquesRare skin diseaseLines of BlaschkoSomatic pathogenic variantsNSDHL mutationsHistopathological evaluationInflammatory disordersScaly plaquesHistopathologic evaluationHistopathological criteriaLinear porokeratosisSkin lesionsAffected skinPatientsSkin diseasesClinical descriptorsHeterogenous group
2020
Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas
Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA. Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas. Journal Of Cutaneous Pathology 2020, 47: 681-685. PMID: 32170967, PMCID: PMC7943230, DOI: 10.1111/cup.13683.Peer-Reviewed Original ResearchConceptsCongenital smooth muscle hamartomaSmooth muscle hamartomaBecker's nevusMuscle hamartomaBecker nevus syndromeDirect sequencingHistopathological featuresHistopathological overlapBenign lesionsMosaic disordersPhenotypic spectrumNeviUnaffected tissueAffected tissuesHamartomaPost-zygotic mutationsHemihypertrophyEnrichment assayTissueMutationsACTB gene
2019
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 ResearchConceptsPorokeratosis 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 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 loss
2016
Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.
Eskin-Schwartz M, Basel-Vanagaite L, David M, Lagovsky I, Ben-Amitai D, Smirin-Yosef P, Atzmony L, Hodak E. Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis. Acta Dermato Venereologica 2016, 96: 885-887. PMID: 26984337, DOI: 10.2340/00015555-2405.Peer-Reviewed Original ResearchConceptsIntra-familial variationClinical phenotypeDisease onsetHLA-C*0602Multifactorial chronic inflammatory diseaseVariability of clinical presentationTime of disease onsetEarly disease onsetChronic inflammatory diseaseAffected family membersCARD14 geneClinical presentationCoding region polymorphismsActivating mutationsSeverely affected individualsPsoriatic phenotypePustular typesInflammatory diseasesPsoriasisCARD14Region polymorphismsDisease expressionCo-segregationDiseaseOnset