2024
Statins Inhibit Cutaneous Squamous Cell Carcinoma Cells
HACKETT A, COHEN A, RUTENBERG T, HODAK E, MOYAL L, ATZMONY L. Statins Inhibit Cutaneous Squamous Cell Carcinoma Cells. Acta Dermato Venereologica 2024, 104: 25097. PMID: 39185545, PMCID: PMC11367778, DOI: 10.2340/actadv.v104.25097.Peer-Reviewed Original ResearchPersistent 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
2023
Facial hypopigmentation as an unusual manifestation of Demodex infestation – a case series
Holzman R, Hackett A, Pavlovsky L, Feuerman H, Hodak E, Didkovsky E, Segal R, Atzmony L. Facial hypopigmentation as an unusual manifestation of Demodex infestation – a case series. International Journal Of Dermatology 2023, 62: 1289-1291. PMID: 37162494, DOI: 10.1111/ijd.16703.Peer-Reviewed Original ResearchBiological treatment for bullous pemphigoid
Oren-Shabtai M, Mimouni D, Nosrati A, Atzmony L, Kaplan B, Barzilai A, Baum S. Biological treatment for bullous pemphigoid. Frontiers In Immunology 2023, 14: 1157250. PMID: 37180101, PMCID: PMC10172582, DOI: 10.3389/fimmu.2023.1157250.Peer-Reviewed Original ResearchConceptsBullous pemphigoidImmunosuppressive therapyPatients treated with rituximabLong-term corticosteroid useAdjuvant immunosuppressive therapyConventional immunosuppressive therapySteroid-sparing agentsAutoimmune subepidermal bullous diseaseFirst-line treatmentPrevious treatment failuresSeries of patientsFollow-up periodFollow-up visitSignificant side effectsNo adverse eventsSubepidermal bullous diseasesBP durationRecalcitrant BPRituximab coursesSystemic corticosteroidsClinical responseTreatment failureCorticosteroid useImmunobiological therapyBiologic therapyClinical features in adults with acquired cutis laxa: a retrospective review
O’Connell K, Schaefer M, Atzmony L, Vleugels R, Choate K, LaChance A, Min M. Clinical features in adults with acquired cutis laxa: a retrospective review. British Journal Of Dermatology 2023, 188: 800-816. PMID: 36849736, PMCID: PMC10230959, DOI: 10.1093/bjd/ljad043.Peer-Reviewed Original ResearchConceptsAcquired cutis laxaCutis laxaThorough systemic investigationRare dermatological conditionMedication exposureAdult patientsRetrospective reviewPatient historyDermatological conditionsGenetic predispositionGenetic mutationsPatientsSystemic investigationEnvironmental insultsExposureComorbiditiesEtiologyInsultLaxaSymptomatology
2022
Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas
Atzmony L, Ugwu N, Bercovitch LG, Robinson‐Bostom L, Ko CJ, Myung P, Choate KA. Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas. American Journal Of Medical Genetics Part A 2022, 188: 3525-3530. PMID: 35972041, PMCID: PMC9669121, DOI: 10.1002/ajmg.a.62951.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaCell carcinomaFollicular hamartomaProliferation indexBasaloid skin tumorsSporadic basal cell carcinomasBasaloid follicular hamartomaKi-67 expressionLow proliferation indexCentral nervous systemWhole-exome sequencingSystemic involvementExpression of hedgehogMultiple lesionsSkin tumorsWnt/beta-catenin pathwayBasaloid lesionsNervous systemVariable involvementPathogenic variantsSegmental distributionPost-zygotic mutational eventSOX-9 expressionNormal tissuesExome sequencingInflammatory 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
Treatment of Bullous Pemphigoid in People Aged 80 Years and Older: A Systematic Review of the Literature
Oren-Shabtai M, Kremer N, Lapidoth M, Sharon E, Atzmony L, Nosrati A, Hodak E, Mimouni D, Levi A. Treatment of Bullous Pemphigoid in People Aged 80 Years and Older: A Systematic Review of the Literature. Drugs & Aging 2020, 38: 125-136. PMID: 33230804, DOI: 10.1007/s40266-020-00823-5.Peer-Reviewed Original ResearchConceptsOlder patientsBullous pemphigoidTopical corticosteroidsCohort studyTreatment of bullous pemphigoidSide effect profileRetrospective cohort studyNational Institutes of Health databaseProspective cohort studySystematic reviewBackgroundBullous pemphigoidRandomized controlled trialsSignificant adverse effectsPartial responseSystemic corticosteroidsCase seriesTherapeutic optionsPatient selectionTreatment modalitiesAdverse eventsOlder adultsConclusionsCurrent dataPrimary outcomeSecondary outcomesUS National InstitutesPost‐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 analysisStage-dependent Increase in Expression of miR-155 and Ki-67 and Number of Tumour-associated Inflammatory Cells in Folliculotropic Mycosis Fungoides
ATZMONY L, MOYAL L, FEINMESSER M, GOROVITZ B, HIRSHBERG A, AMITAY-LAISH I, PRAG-NAVEH H, BARZILAI A, HODAK E. Stage-dependent Increase in Expression of miR-155 and Ki-67 and Number of Tumour-associated Inflammatory Cells in Folliculotropic Mycosis Fungoides. Acta Dermato Venereologica 2020, 100: 5828. PMID: 32556361, PMCID: PMC9207631, DOI: 10.2340/00015555-3578.Peer-Reviewed Original ResearchConceptsFolliculotropic mycosis fungoidesMycosis fungoidesKi-67Inflammatory cellsCD20+ B cellsTumor-associated inflammatory cellsTumor-infiltrating inflammatory cellsVariant of mycosis fungoidesEarly-stage MFTumour cell immunoreactivityCD68+ macrophagesMiR-155 expressionTumor-stage MFStage-dependent increaseStatistically significant differenceIndolent stageMiR-155Clinicopathological stageCell immunoreactivityB cellsInflammatory dermatosesImmunohistochemical analysisProliferating lymphocytesFungoidesSignificant difference
2019
Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis
Atzmony L, Choate KA. Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis. Journal Of Investigative Dermatology 2019, 139: 2409-2411. PMID: 31753123, PMCID: PMC7962864, DOI: 10.1016/j.jid.2019.07.723.Peer-Reviewed Original ResearchRecessive 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 mutationsLesionsKeratinocytesTopical 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 metabolitesReview of genodermatoses with characteristic histopathology and potential diagnostic delay
Ko CJ, Atzmony L, Lim Y, McNiff JM, Craiglow B, Antaya RJ, Choate KA. Review of genodermatoses with characteristic histopathology and potential diagnostic delay. Journal Of Cutaneous Pathology 2019, 46: 756-765. PMID: 31148225, DOI: 10.1111/cup.13520.Peer-Reviewed Original ResearchSecond-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
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