2024
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene
Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E. Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene. JAMA Dermatology 2024, 160: 518-524. PMID: 38536168, PMCID: PMC10974685, DOI: 10.1001/jamadermatol.2024.0152.Peer-Reviewed Original ResearchConceptsSomatic variantsATP2A2 geneDeep sequencingResponse to environmental factorsCopy number variantsRestriction fragment length polymorphismLoss of heterozygosityWhole-exome sequencingChromosomal microarray analysisDarier's diseaseFragment length polymorphismPaired whole exome sequencingPathogenic germline variantsHeterozygous pathogenic germline variantsDD lesionsGenomic characteristicsGenetic analysisGenetic skin disordersGermline variantsSanger sequencingLength polymorphismSkin lesionsTransient lesionsHeterozygous variantsMicroarray analysis
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
2021
Pigmented demodicidosis ‐ an under‐recognized cause of facial hyperpigmentation
Feuerman H, Atzmony L, Glick M, Sherman S, Snast I, Hodak E, Segal R. Pigmented demodicidosis ‐ an under‐recognized cause of facial hyperpigmentation. International Journal Of Dermatology 2021, 61: 564-569. PMID: 34897670, DOI: 10.1111/ijd.15992.Peer-Reviewed Original ResearchConceptsFacial hyperpigmentationMedical files of patientsFiles of patientsOutpatient dermatology clinicBackground erythemaHistopathological featuresDermatology clinicMedical filesReticulate pigmentationDermoscopic findingsFollicular openingsFacial pigmentationHyperpigmentationHair folliclesSkin roughnessDemodicidosisPatientsDiagnostic dataErythemaFindingsCohortFolliclesClinicAffected areasInfiltration
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 geneClues to primary vismodegib resistance lie in histology and genetics
Sun Q, Atzmony L, Zaki T, Peng A, Sugarman J, Choate KA. Clues to primary vismodegib resistance lie in histology and genetics. Journal Of Clinical Pathology 2020, 73: 678-680. PMID: 32217615, PMCID: PMC7513245, DOI: 10.1136/jclinpath-2020-206448.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaCommon human malignant neoplasmInfundibulocystic basal cell carcinomaBasal cell nevus syndromeHuman malignant neoplasmsWhole-exome sequencingClinical featuresBCC subtypesCell carcinomaMalignant neoplasmsHistological resultsHedgehog pathwayBiopsyVismodegibCarcinomaNeoplasmsSyndromeHistologyLesionsSubtypesMutationsBloodMutations in KRT10 in epidermolytic acanthoma
Cheraghlou S, Atzmony L, Roy SF, McNiff JM, Choate KA. Mutations in KRT10 in epidermolytic acanthoma. Journal Of Cutaneous Pathology 2020, 47: 524-529. PMID: 32045015, PMCID: PMC7914398, DOI: 10.1111/cup.13664.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingEpidermolytic acanthomaEpidermolytic hyperkeratosisHotspot mutationsCharacteristic histopathological patternEpidermolytic ichthyosisHistopathological patternsHistopathological analysisDiscovery cohortLesional tissueAdditional casesPolymerase chain reaction amplificationEpidermal degenerationChain reaction amplificationFragment length polymorphism analysisRestriction fragment length polymorphism analysisLength polymorphism analysisDermatosesIchthyosis bullosaAcanthomaKRT10Departmental archivesReaction amplificationIchthyosisPolymorphism analysis
2019
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. American Journal Of Human Genetics 2019, 105: 1023-1029. PMID: 31630788, PMCID: PMC6849088, DOI: 10.1016/j.ajhg.2019.09.021.Peer-Reviewed Original ResearchConceptsAdaptor protein-1 (AP-1) complexΒ-subunitProtein-1 complexAP-1 complexIntercellular junction proteinsVesicular phenotypeAbnormal vesiclesΓ subunitBi-allelic mutationsRecessive mutationsAffected cellEpidermal differentiationAbnormal epidermal differentiationSubunitsUnrelated individualsAP1B1Junction proteinsMutationsCellsTransductionComplexesGenesProteinAbundanceVesiclesPhenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions
Atzmony L, Zaki TD, Antaya RJ, Choate KA. Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions. American Journal Of Medical Genetics Part A 2019, 179: 2469-2473. PMID: 31566882, PMCID: PMC7914397, DOI: 10.1002/ajmg.a.61362.Peer-Reviewed Original ResearchConceptsDowling-Degos diseasePhenotypic expansionMosaic disordersFunction mutationsDistinct clinical presentationsSomatic copy-neutral lossGermline heterozygous mutationsWhole-exome sequencingClinical presentationEczematous plaquesFollicular papulesAffected skinSkin diseasesBlaschko's linesCopy-neutral lossHeterozygous mutationsReticulated hyperpigmentationExome sequencingNormal keratinocytesPostzygotic mutationDisordersExpression levelsSomatic mutationsLesionsKeratinocytes
2018
Psychological stress and psoriasis: a systematic review and meta‐analysis
Snast I, Reiter O, Atzmony L, Leshem Y, Hodak E, Mimouni D, Pavlovsky L. Psychological stress and psoriasis: a systematic review and meta‐analysis. British Journal Of Dermatology 2018, 178: 1044-1055. PMID: 29124739, DOI: 10.1111/bjd.16116.Peer-Reviewed Original ResearchConceptsCase-control studyOdds ratioPsychological stressExacerbation of psoriasisOnset of psoriasisCross-sectional studyStress disorder diagnosisStressful eventsPsoriasis exacerbationRetrospective studyCohort studySystematic reviewMeta-analysesPsoriasisCochrane LibraryMeta-analysisPatientsExacerbationDisorder diagnosisStress reactivityAssociationSurveyStress levelsPsycINFOOdds
2017
Risk for hepatitis B and C virus reactivation in patients with psoriasis on biologic therapies: A retrospective cohort study and systematic review of the literature
Snast I, Atzmony L, Braun M, Hodak E, Pavlovsky L. Risk for hepatitis B and C virus reactivation in patients with psoriasis on biologic therapies: A retrospective cohort study and systematic review of the literature. Journal Of The American Academy Of Dermatology 2017, 77: 88-97.e5. PMID: 28495497, DOI: 10.1016/j.jaad.2017.01.037.Peer-Reviewed Original ResearchConceptsChronic HBV infectionBiologic therapyHBV infectionViral reactivationAntiviral prophylaxisCore antibodyHCV infectionHepatitis BSafety of biologic therapiesHistory of viral hepatitisSystematic reviewIsolated core antibodyHBV core antibodyLow-risk patientsRetrospective cohort study designRetrospective cohort studyReactivated HBV infectionCohort study designPsoriasis patientsViral hepatitisEvaluate safetyFollow-upCohort studyPrimary outcomeTreatment durationVenous thromboembolism in patients with pemphigus: A cohort study
Leshem Y, Atzmony L, Dudkiewicz I, Hodak E, Mimouni D. Venous thromboembolism in patients with pemphigus: A cohort study. Journal Of The American Academy Of Dermatology 2017, 77: 256-260. PMID: 28495498, DOI: 10.1016/j.jaad.2017.01.059.Peer-Reviewed Original ResearchConceptsVenous thromboembolism riskDevelopment of venous thromboembolismVenous thromboembolism risk factorsVenous thromboembolismCharacteristics of venous thromboembolismRisk factorsAsymptomatic venous thromboembolismDeep vein thrombosesFollow-up timeVenous thromboembolic eventsPemphigus diagnosisPemphigus treatmentPatient yearsPulmonary embolismVein thrombosesCause of deathRetrospective studyThrombo-prophylaxisHealth recordsPatientsHigh riskPemphigusDiagnosed pemphigusControl populationThromboembolism
2016
New insights into folliculotropic mycosis fungoides (FMF): A single-center experience
Hodak E, Amitay-Laish I, Atzmony L, Prag-Naveh H, Yanichkin N, Barzilai A, Kershenovich R, Feinmesser M. New insights into folliculotropic mycosis fungoides (FMF): A single-center experience. Journal Of The American Academy Of Dermatology 2016, 75: 347-355. PMID: 27245278, DOI: 10.1016/j.jaad.2016.03.009.Peer-Reviewed Original ResearchConceptsFolliculotropic mycosis fungoidesMycosis fungoidesPattern of clinicopathological featuresAdvanced stageLong-term follow-upLack of long-term follow-upTertiary medical centerEarly-stage lesionsEarly-stage groupPresence of eosinophilsAggressive courseTumor stageClinicopathological presentationHistopathological discriminationPerifollicular infiltratePrognostic implicationsClinicopathological featuresInfiltration densityAcneiform lesionsClinical manifestationsIndurated plaquesFollow-upMultivariate analysisTumorMedical CenterIntra-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
2015
Treatments for Cutaneous Lichen Planus: A Systematic Review and Meta-Analysis
Atzmony L, Reiter O, Hodak E, Gdalevich M, Mimouni D. Treatments for Cutaneous Lichen Planus: A Systematic Review and Meta-Analysis. American Journal Of Clinical Dermatology 2015, 17: 11-22. PMID: 26507510, DOI: 10.1007/s40257-015-0160-6.Peer-Reviewed Original ResearchMeSH KeywordsAcitretinAdministration, CutaneousAntifungal AgentsAnti-Inflammatory Agents, Non-SteroidalCalcitriolDermatologic AgentsEnoxaparinFemaleFibrinolytic AgentsFicusinGlucocorticoidsGriseofulvinHumansKeratolytic AgentsLichen PlanusMaleNon-Randomized Controlled Trials as TopicPhotochemotherapyPhotosensitizing AgentsPUVA TherapyRandomized Controlled Trials as TopicSulfasalazineTreatment OutcomeConceptsNarrow-band ultraviolet B radiationPsoralen plus ultraviolet A photochemotherapyLichen planusControlled trialsRandomized controlled trialsTreatment modalitiesCourse of oral metronidazoleNonrandomized case-control studyWithdrawals due to adverse eventsResponse rateUltraviolet A photochemotherapyComplete response rateLow-dose prednisoloneCochrane Central Register of Controlled TrialsCentral Register of Controlled TrialsChronic relapsing courseEffective treatment optionReduction of itchingOverall response rateRegister of Controlled TrialsAdverse event ratesCutaneous lichen planusCase-control studySystematic reviewCochrane Central RegisterCutaneous Polyarteritis Nodosa Associated with Destructive Arthritis.
Atzmony L, Feuerman H, Molad Y, Didkovsky Y, Hodak E. Cutaneous Polyarteritis Nodosa Associated with Destructive Arthritis. Israel Medical Association Journal 2015, 17: 587-8. PMID: 26625555.Peer-Reviewed Original ResearchErythrodermic mycosis fungoides and Sézary syndrome treated with extracorporeal photopheresis as part of a multimodality regimen: A single‐centre experience
Atzmony L, Amitay-Laish I, Gurion R, Shahal-Zimra Y, Hodak E. Erythrodermic mycosis fungoides and Sézary syndrome treated with extracorporeal photopheresis as part of a multimodality regimen: A single‐centre experience. Journal Of The European Academy Of Dermatology And Venereology 2015, 29: 2382-2389. PMID: 26299651, DOI: 10.1111/jdv.13243.Peer-Reviewed Original ResearchConceptsExtracorporeal photopheresisErythrodermic mycosis fungoidesSezary syndromeLeukaemic involvementMycosis fungoidesErythrodermic MFTreated with extracorporeal photopheresisBlood responseNarrow-band ultraviolet BSkin responsePatch-stage MFClinical response rateElectron beam radiotherapyTopical nitrogen mustardTertiary medical centreMultimodal approachBeam radiotherapyMultimodality regimenClinical responseAdjunctive therapyInterferon-aSurvival advantageMedical filesPhotopheresisPatientsThe role of adjuvant therapy in pemphigus: A systematic review and meta-analysis
Atzmony L, Hodak E, Leshem Y, Rosenbaum O, Gdalevich M, Anhalt G, Mimouni D. The role of adjuvant therapy in pemphigus: A systematic review and meta-analysis. Journal Of The American Academy Of Dermatology 2015, 73: 264-271. PMID: 26088689, DOI: 10.1016/j.jaad.2015.04.038.Peer-Reviewed Original ResearchConceptsRisk of relapseRandomized controlled trialsMeta-analysis of randomized controlled trialsControlled trialsCumulative glucocorticoid doseOral glucocorticoid treatmentMeta-analysisTreatment of pemphigusSystematic reviewDisease controlGlucocorticoid doseOral glucocorticoidsIntravenous immunoglobulinMycophenolate mofetilPemphigus treatmentAdjuvant therapyPlasma exchangeAdjuvant modalitiesGlucocorticoid treatmentAdverse eventsPemphigus vulgarisPrimary outcomeRelapseSecondary outcomesTen trials
2012
Symptomatic venous thromboembolism in elderly patients following major orthopedic surgery of the lower limb is associated with elevated vitamin B12 serum levels
Grossfeld A, Dekel S, Lerman Y, Sherman S, Atzmony L, Salai M, Justo D. Symptomatic venous thromboembolism in elderly patients following major orthopedic surgery of the lower limb is associated with elevated vitamin B12 serum levels. Clinical Biochemistry 2012, 46: 54-58. PMID: 23000313, DOI: 10.1016/j.clinbiochem.2012.09.011.Peer-Reviewed Original ResearchConceptsVitamin B12 serum levelsB12 serum levelsAssociated with systemic inflammationVenous thromboembolism risk factorsSymptomatic venous thromboembolismSerum levelsVenous thromboembolismElderly patientsStudy groupOrthopedic surgerySystemic inflammationControl groupCo-morbiditiesRisk factorsAssociated with venous thromboembolismPatients venous thromboembolismLower limbsRetrospective studyVTE patientsMedical chartsSurgeryPatientsIndependent of demographicsMortalityThromboembolism
2010
Thrombosis associated with acute cytomegalovirus infection: A meta-analysis
Justo D, Finn T, Atzmony L, Guy N, Steinvil A. Thrombosis associated with acute cytomegalovirus infection: A meta-analysis. European Journal Of Internal Medicine 2010, 22: 195-199. PMID: 21402253, DOI: 10.1016/j.ejim.2010.11.006.Peer-Reviewed Original ResearchConceptsAcute CMV infectionSplanchnic vein thrombosisCMV infectionImmunocompetent patientsImmunocompromised patientsVein thrombosisTreated with antiviral agentsDuration of anticoagulant therapyClinical characteristics of patientsIn-hospital mortality rateSigns of thrombosisIncidence of thrombosisCharacteristics of patientsAcute cytomegalovirusAnticoagulant therapyFemale-male ratioClinical characteristicsSplenic infarctionInherited predispositionHospitalized patientsThrombosisPatientsAntiviral agentsMedical literatureClinical experienceIncidence of Cytomegalovirus-associated thrombosis and its risk factors: A case-control study
Atzmony L, Halutz O, Avidor B, Finn T, Zimmerman O, Steinvil A, Zeltser D, Giladi M, Justo D. Incidence of Cytomegalovirus-associated thrombosis and its risk factors: A case-control study. Thrombosis Research 2010, 126: e439-e443. PMID: 20926120, DOI: 10.1016/j.thromres.2010.09.006.Peer-Reviewed Original ResearchConceptsAcute CMV infectionAssociated with thrombosisCMV infectionConsecutive patientsRisk factorsControl groupSex-matched consecutive patientsStudy groupCohort of patientsTertiary medical centerConsecutive matched patientsBinary logistic regression analysisLogistic regression analysisVenous thrombosesVenous thrombosisMatched patientsThrombosis incidenceInherited predispositionMedical chartsArterial thrombosisPhysician awarenessThrombosisAge-matchedPatientsMedical Center