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
2019
Phenotypic 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 mutationsLesionsKeratinocytesReview 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 Research
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: e363-e363. DOI: 10.1111/bjd.16620.Peer-Reviewed Original ResearchPsychological stressStressful eventsRecalled stressful eventsLack of robust evidencePsoriasis patientsDiagnosis of stress disordersChronic inflammatory skin diseaseInfluence of psychological stressPatient recallWorsening of psoriasisInflammatory skin diseaseStress disorderPatient's memoryEvaluate disease severityRobust evidencePsoriasis onsetPsoriasis severityPsoriasisPatientsControl groupDisease severitySkin diseases