2024
Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database
Curtis K, Echeandia-Francis C, Falotico J, Luo A, Qiu Y, Grover C, Piraccini B, Choate K, Lipner S. Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database. Journal Of The American Academy Of Dermatology 2024 PMID: 39278313, DOI: 10.1016/j.jaad.2024.08.063.Peer-Reviewed Original ResearchLB974 Mutation spectrum of cutaneous vascular anomalies
shah K, Goldust M, Ellis K, Ugwu N, Hu R, Zhou J, Choate K. LB974 Mutation spectrum of cutaneous vascular anomalies. Journal Of Investigative Dermatology 2024, 144: s171. DOI: 10.1016/j.jid.2024.06.1150.Peer-Reviewed Original ResearchDantrolene corrects cellular disease features of Darier disease and may be a novel treatment
Hunt M, Wang N, Pupinyo N, Curman P, Torres M, Jebril W, Chatzinikolaou M, Lorent J, Silberberg G, Bansal R, Burner T, Zhou J, Kimeswenger S, Hoetzenecker W, Choate K, Bachar-Wikstrom E, Wikstrom J. Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment. EMBO Molecular Medicine 2024, 16: 1986-2001. PMID: 39060641, PMCID: PMC11392931, DOI: 10.1038/s44321-024-00104-3.Peer-Reviewed Original ResearchDarier's diseaseER stressCell adhesionER calcium levelsUpregulation of ER stressInhibited calcium releaseRyanodine receptor antagonistEndoplasmic reticulum calcium homeostasisTarget pathogenic mechanismsFeatures of Darier's diseaseIdentified dysregulated genesMechanisms of DDNon-dermatological indicationsCellular calcium dynamicsCellular functionsER calciumHomeostasis pathwaysATP2A2 geneIn vitro modelReceptor antagonistPumps calciumCalcium releasePromote cell adhesionIsoform 2Suppressed apoptosisGuselkumab for Pityriasis Rubra Pilaris and Dysregulation of IL-23/IL-17 and NFkB Signaling
Velasco R, Shao C, Cutler B, Strunck J, Kent G, Cassidy P, Choate K, Greiling T. Guselkumab for Pityriasis Rubra Pilaris and Dysregulation of IL-23/IL-17 and NFkB Signaling. JAMA Dermatology 2024, 160: 641-645. PMID: 38598229, PMCID: PMC11007649, DOI: 10.1001/jamadermatol.2024.0257.Peer-Reviewed Original ResearchPsoriasis Area Severity IndexPityriasis rubra pilarisDermatology Life Quality Index scoresInvolvement of interleukinsQuality Index scoreFood and Drug Administration-approved treatmentPrimary outcomeUS Food and Drug Administration-approved treatmentPsoriasis area severity index scoreSex-matched healthy controlsIL-23p19 inhibitorsP19 subunit of IL-23Index scoreArea Severity IndexIL-23/IL-17Subunit of IL-23Per-protocol analysisClinical responseStudy drugDosing scheduleClinical respondersClinical improvementMale patientsIL-23GuselkumabIntravenous immunoglobulin-induced eczematous dermatitis treated with dupilumab
Singh K, Breidbart R, Jaiswal A, Damsky W, Choate K, Vesely M. Intravenous immunoglobulin-induced eczematous dermatitis treated with dupilumab. JAAD Case Reports 2024, 49: 102-105. PMID: 38952857, PMCID: PMC11214983, DOI: 10.1016/j.jdcr.2024.05.002.Peer-Reviewed Case Reports and Technical NotesHow Efforts to Understand Somatic Mosaicism Will Impact Dermatology
Mortlock R, Choate K. How Efforts to Understand Somatic Mosaicism Will Impact Dermatology. Journal Of Investigative Dermatology 2024, 144: 453-455. PMID: 38395493, PMCID: PMC11009867, DOI: 10.1016/j.jid.2023.10.007.Peer-Reviewed Original ResearchTopical trametinib for epidermal and sebaceous nevi in a child with Schimmelpenning‐Feuerstein‐Mims syndrome
Haller C, Leszczynska M, Brichta L, Maier E, Riddington I, Choate K, Levy M. Topical trametinib for epidermal and sebaceous nevi in a child with Schimmelpenning‐Feuerstein‐Mims syndrome. Pediatric Dermatology 2024, 41: 523-525. PMID: 38273779, PMCID: PMC11096062, DOI: 10.1111/pde.15523.Peer-Reviewed Original ResearchIn‐person validation of the Ichthyosis Scoring System
Echeandia‐Francis C, Sun Q, Asch S, Bayart C, Benjamin L, Cipriano S, Craiglow B, Dyer J, Levy M, Lilly E, Newell B, Liang J, Gan G, Deng Y, Paller A, Choate K. In‐person validation of the Ichthyosis Scoring System. Pediatric Dermatology 2024, 41: 247-252. PMID: 38234066, DOI: 10.1111/pde.15508.Peer-Reviewed Original ResearchInterrater intraclass correlation coefficientsIntrarater reliabilityIn-personIntraclass correlation coefficientIn-person evaluationContent validityInterrater reliabilityHeterogeneous group of skin disordersGroup of skin disordersIntraraterMedical professionalsInterrater agreementErythema evaluationIchthyosis subtypesPhotographic evaluationErythema scoreInterraterErythemaQuantify severitySkin disordersClinical utilityIchthyosisScoring systemHeterogeneous groupCorrelation coefficient
2023
Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin
Bolsoni J, Liu D, Mohabatpour F, Ebner R, Sadhnani G, Tafech B, Leung J, Shanta S, An K, Morin T, Chen Y, Arguello A, Choate K, Jan E, Ross C, Brambilla D, Witzigmann D, Kulkarni J, Cullis P, Hedtrich S. Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin. ACS Nano 2023, 17: 22046-22059. PMID: 37918441, PMCID: PMC10655174, DOI: 10.1021/acsnano.3c08644.Peer-Reviewed Original ResearchConceptsLipid nanoparticlesLNP compositionGene editing ratesGene editingGene editing toolsIonizable lipidsEfficient deliveryDelivery barriersCas9 RNPMonogenic skin diseasesOff-target effectsNanoparticlesEditing ratesEditing toolsCas9 mRNAGenetic toolsHuman skinEditingHigh 2DSkin tissueExciting advancesEfficientLayerDeliveryEpidermal layerAssociations between ichthyosis and mood disorders: A case-control study in the All of Us Research Program
Chen G, Goldust M, Choate K, Cohen J. Associations between ichthyosis and mood disorders: A case-control study in the All of Us Research Program. Journal Of The American Academy Of Dermatology 2023, 90: 439-440. PMID: 37863200, DOI: 10.1016/j.jaad.2023.10.025.Peer-Reviewed Original ResearchAssociation 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 insultsExposureComorbiditiesEtiologyInsultLaxaSymptomatologyNagashima‐type palmoplantar keratoderma: Case series and two novel variants
Braun M, Choate K, Mathes E. Nagashima‐type palmoplantar keratoderma: Case series and two novel variants. Pediatric Dermatology 2023, 40: 882-885. PMID: 36721328, DOI: 10.1111/pde.15265.Peer-Reviewed Original Research
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 mRNAsFindingsPatientsHistopathologicalDiseaseEpithelium502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds
Sun Q, Marukian N, Cheraghlou S, Paller A, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu R, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams C, Loring E, Craiglow B, Milstone L, Lifton R, Boyden L, Choate K. 502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds. Journal Of Investigative Dermatology 2022, 142: s85. DOI: 10.1016/j.jid.2022.05.511.Peer-Reviewed Original ResearchInflammatory 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 groupAcral hemorrhagic Darier disease: A case report of a rare presentation and literature review
Hong E, Hu R, Posligua A, Choate K, Durkin J. Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review. JAAD Case Reports 2022, 31: 93-96. PMID: 36545487, PMCID: PMC9762068, DOI: 10.1016/j.jdcr.2022.05.030.Peer-Reviewed Original Research
2021
25905 The Ichthyosis Scoring System (ISS): Development and validation of a novel ichthyosis severity assessment instrument
Sun Q, Paller A, Choate K. 25905 The Ichthyosis Scoring System (ISS): Development and validation of a novel ichthyosis severity assessment instrument. Journal Of The American Academy Of Dermatology 2021, 85: ab12. DOI: 10.1016/j.jaad.2021.06.073.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 Research186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation
Vahidnezhad H, Youssefian L, Touati A, Saeidian A, Harvey N, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Boyden L, Choate K, McGrath J, Uitto J. 186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Journal Of Investigative Dermatology 2021, 141: s33. DOI: 10.1016/j.jid.2021.02.206.Peer-Reviewed Original Research