2023
Association of Somatic ATP2A2 Damaging Variants With Grover Disease
Seli D, Ellis K, Goldust M, Shah K, Hu R, Zhou J, McNiff J, Choate K. Association of Somatic ATP2A2 Damaging Variants With Grover Disease. JAMA Dermatology 2023, 159: 745-749. PMID: 37195706, PMCID: PMC10193258, DOI: 10.1001/jamadermatol.2023.1139.Peer-Reviewed Original ResearchConceptsGrover's diseaseGD tissuesSomatic single nucleotide variantsControl tissuesRetrospective case seriesCase series studyAnnotation-dependent depletion scoreConsecutive patientsCase seriesKidney failureHistopathologic findingsAcantholytic disordersOrgan transplantationMAIN OUTCOMEBiopsy tissueSeries studyDarier's diseaseClinical diagnosisParticipant's DNAOlder individualsTissue DNADiseaseDisordersPatientsBiopsyClinical 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
Inguinal patch in mpox (monkeypox) virus infection and eccrine syringometaplasia: report of two cases with in situ hybridization and electron microscopy findings
Roy S, Sarhan J, Liu X, Murphy M, Bunick C, Choate K, Damsky W, McNiff J. Inguinal patch in mpox (monkeypox) virus infection and eccrine syringometaplasia: report of two cases with in situ hybridization and electron microscopy findings. British Journal Of Dermatology 2022, 188: 574-576. PMID: 36763786, DOI: 10.1093/bjd/ljac146.Peer-Reviewed Original ResearchConceptsVirus infectionUnusual clinical findingsElectron microscopy findingsEccrine epitheliumSquamous syringometaplasiaClinical findingsSitu hybridizationEccrine ductsMicroscopy findingsSyringometaplasiaUltrastructural characteristicsInfectionViral mRNAsFindingsPatientsHistopathologicalDiseaseEpitheliumInflammatory 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
1998
Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis
Choate K, Khavari P, Williams M. Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis. Journal Of Investigative Dermatology 1998, 110: 8-12. PMID: 9424079, DOI: 10.1046/j.1523-1747.1998.00070.x.Peer-Reviewed Original ResearchConceptsCongenital ichthyosiform erythrodermaCIE patientsAutosomal recessive ichthyosisRecessive ichthyosisInternal organ involvementSubset of patientsLamellar ichthyosisImmune-deficient miceNonbullous congenital ichthyosiform erythrodermaAbnormal intracellular accumulationClassic lamellar ichthyosisGroup of diseasesErythrodermic psoriasisOrgan involvementAtopic dermatitisClinical featuresDeficient miceMinimal erythemaPatientsSkin disordersNetherton syndromeSpecific abnormalitiesAbnormal cornificationSkin rednessIchthyosiform erythroderma
1997
A Model of Corrective Gene Transfer in X-Linked Ichthyosis
Freiberg R, Choate K, Deng H, Alperin E, Shapiro L, Khavari P. A Model of Corrective Gene Transfer in X-Linked Ichthyosis. Human Molecular Genetics 1997, 6: 927-933. PMID: 9175741, DOI: 10.1093/hmg/6.6.927.Peer-Reviewed Original ResearchConceptsSTS protein expressionCorrective gene deliveryDefective skin barrier functionSkin barrier functionSTS expressionCorrective gene transferBarrier function parametersCutaneous gene deliveryGenetic skin disordersImmunodeficient miceHistologic appearanceSame patientNormal controlsHyperkeratotic epidermisSkin disordersLoss of functionNormal skinPatientsBarrier functionXLI patientsProtein expressionPrimary keratinocytesPatient skin tissueCutaneous gene therapyHuman epidermis
1996
Corrective gene transfer in the human skin disorder lamellar ichthyosis
Choate K, Medalie D, Morgan J, Khavari P. Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nature Medicine 1996, 2: 1263-1267. PMID: 8898758, DOI: 10.1038/nm1196-1263.Peer-Reviewed Original ResearchConceptsLamellar ichthyosisImmunodeficient mouse xenograft modelPrimary pathophysiologic defectMouse xenograft modelAbnormal epidermal differentiationCorrective gene transferCutaneous gene deliveryPathophysiologic defectsLI patientsEpidermal differentiationFunctional abnormalitiesPotential future approachesImmunodeficient miceXenograft modelSkin diseasesCutaneous barrierDifferentiation marker filaggrinFunction measuresNormal skinEpidermal barrierPatient's skinPrimary keratinocytesPatientsSkinHuman skin