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 ResearchLB941 KM-001, a novel TRPV3 inhibitor, demonstrates safety and preliminary efficacy in Phase 1b clinical study for the treatment of palmoplantar keratoderma
Cernova J, Eskin-Schwartz M, Atzmony L, Samuelov L, De Brito M, Chan J, Aviezer D, Brener E, Lederman R, Mashriki T, Michel D, Barak S, Braiman L, Sprecher E, O’Toole E. LB941 KM-001, a novel TRPV3 inhibitor, demonstrates safety and preliminary efficacy in Phase 1b clinical study for the treatment of palmoplantar keratoderma. Journal Of Investigative Dermatology 2024, 144: s164. DOI: 10.1016/j.jid.2024.06.1114.Peer-Reviewed Original Research412 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene
Atzmony L, Zagairy F, Tatour Y, Danial-Farran N, Dodiuk-Gad R, Barak E. 412 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene. Journal Of Investigative Dermatology 2024, 144: s71. DOI: 10.1016/j.jid.2024.06.428.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
65 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene
Atzmony L, Zagairy F, Ziv M, Farran N, Dudiok-Gad R, Barak E. 65 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene. Journal Of Investigative Dermatology 2023, 143: s343. DOI: 10.1016/j.jid.2023.09.073.Peer-Reviewed Original ResearchFacial 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 areasInfiltrationCutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Ugwu N, Atzmony L, Ellis KT, Panse G, Jain D, Ko CJ, Nassiri N, Choate KA. Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation. Human Genetics And Genomics Advances 2021, 3: 100061. PMID: 35047851, PMCID: PMC8756555, DOI: 10.1016/j.xhgg.2021.100061.Peer-Reviewed Original ResearchLB731 GJA4 somatic mutations drive venous malformation in the skin and liver and reveal a novel pathway for therapeutic intervention
Ugwu N, Atzmony L, Ellis K, Panse G, Jain D, Ko C, Nassiri N, Choate K. LB731 GJA4 somatic mutations drive venous malformation in the skin and liver and reveal a novel pathway for therapeutic intervention. Journal Of Investigative Dermatology 2021, 141: b8. DOI: 10.1016/j.jid.2021.07.021.Peer-Reviewed Original ResearchCutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Ugwu N, Atzmony L, Ellis KT, Panse G, Jain D, Ko CJ, Nassiri N, Choate KA. Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation. Human Genetics And Genomics Advances 2021, 2: 100028. PMID: 33912852, PMCID: PMC8078848, DOI: 10.1016/j.xhgg.2021.100028.Peer-Reviewed Original ResearchSerum/glucocorticoid-regulated kinase 1Serine/threonine kinaseWhole-exome sequencingFirst transmembrane domainCell morphologyPrimary human endothelial cellsSomatic mutationsNon-canonical activationGlucocorticoid-regulated kinase 1Threonine kinaseTransmembrane domainEndothelial cellsSGK1 activationKinase 1Human endothelial cellsGenetic driversAlpha 4Lentiviral transductionInhibitors of angiogenesisSmooth muscle cellsMutationsCell proliferationSequencingUnrelated individualsSame mutation
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 InstitutesTwo percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis
Ugwu N, Choate KA, Atzmony L. Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis. JAAD Case Reports 2020, 6: 1110-1112. PMID: 33005717, PMCID: PMC7519267, DOI: 10.1016/j.jdcr.2020.08.017.Peer-Reviewed Original Research294 Recessive mutations in AP1B1 cause ichthyosis, deafness, and blindness
Boyden L, Atzmony L, Zhou J, Lim Y, Hu R, Lifton R, Choate K. 294 Recessive mutations in AP1B1 cause ichthyosis, deafness, and blindness. Journal Of Investigative Dermatology 2020, 140: s36. DOI: 10.1016/j.jid.2020.03.300.Peer-Reviewed Original ResearchPost‐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