2022
502 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 ResearchThe Genomic and Phenotypic Landscape of Ichthyosis
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA. The Genomic and Phenotypic Landscape of Ichthyosis. JAMA Dermatology 2022, 158: 16-25. PMID: 34851365, PMCID: PMC8637393, DOI: 10.1001/jamadermatol.2021.4242.Peer-Reviewed Original ResearchConceptsClinical manifestationsPathogenic variantsCohort studySkin painEye problemsPhenotypic spectrumGenotype-phenotype associationsSkin odorClear genotype-phenotype associationsFisher's exact testGenetic diagnosisPatient advocacy groupsNovel disease-associated variantsReferral centerDisease-associated variantsClinical assessmentSkin infectionsClinical photographsMAIN OUTCOMEExact testHearing problemsHeterogeneous disorderScaly skinBlood DNACommon genotype
2021
Executive summary: Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
Group P, Zaenglein A, Levy M, Stefanko N, Benjamin L, Bruckner A, Choate K, Craiglow B, DiGiovanna J, Eichenfield L, Elias P, Fleckman P, Lawley L, Lewis R, Lucky A, Mathes E, Milstone L, Paller A, Patel S, Siegel D, Teng J, Tanumihardjo S, Thaxton L, Williams M. Executive summary: Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. Journal Of The American Academy Of Dermatology 2021, 86: 158-161. PMID: 34499997, DOI: 10.1016/j.jaad.2021.08.047.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsDiscussion of talks from the symposium: Factor X: From thrombokinase to oral anti-coagulants and beyond
Milstone LM, Jackson C, Becker RC, Camire R, Knabb R, Mann K, Ruf W, Wexler RR, Wood J. Discussion of talks from the symposium: Factor X: From thrombokinase to oral anti-coagulants and beyond. Journal Of Thrombosis And Thrombolysis 2021, 52: 408-413. PMID: 34637116, PMCID: PMC8506080, DOI: 10.1007/s11239-021-02545-w.Commentaries, Editorials and LettersGuest editors’ introduction
Milstone LM, Jackson CM. Guest editors’ introduction. Journal Of Thrombosis And Thrombolysis 2021, 52: 363-363. PMID: 34264437, DOI: 10.1007/s11239-021-02522-3.Commentaries, Editorials and LettersFactor Xa: Thrombokinase from Paul Morawitz to J Haskell Milstone
Milstone LM. Factor Xa: Thrombokinase from Paul Morawitz to J Haskell Milstone. Journal Of Thrombosis And Thrombolysis 2021, 52: 364-370. PMID: 33484373, DOI: 10.1007/s11239-021-02387-6.Peer-Reviewed Original Research
2020
Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice
Asch S, Swink SM, Vivar KL, Pickford J, Breuning L, Wassel C, Hand JL, Milstone L, Castelo‐Soccio L. Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice. Pediatric Dermatology 2020, 38: 137-142. PMID: 33230835, DOI: 10.1111/pde.14460.Peer-Reviewed Original ResearchConceptsPatient advocacy groupsRetrospective cohort studyDemographics of patientsPercent of casesUse of telemedicineCohort studyPhysician advicePediatric populationPatient outcomesCurrent healthcare environmentRare diseasePatient's lifePatientsCase reviewPhysician collaborationAdvocacy groupsCharacteristics of responseDecades of experienceDescriptive statisticsTelemedicineIchthyosisHealthcare environmentGroupCasesCliniciansConsensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
Zaenglein AL, Levy ML, Stefanko NS, Benjamin LT, Bruckner AL, Choate K, Craiglow BG, DiGiovanna JJ, Eichenfield LF, Elias P, Fleckman P, Lawley LP, Lewis RA, Lucky AW, Mathes EF, Milstone LM, Paller AS, Patel SS, Siegel DH, Teng J, Tanumihardjo SA, Thaxton L, Williams ML, Group P. Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. Pediatric Dermatology 2020, 38: 164-180. PMID: 33169909, PMCID: PMC7984068, DOI: 10.1111/pde.14408.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsUse of retinoidsSystemic retinoidsDisorders of cornificationLong-term useContraceptive concernsRetinoid useCardiovascular effectsHormonal contraceptionBone effectsConsensus recommendationsSide effectsClinical concernAvailable evidenceRetinoidsDisordersIchthyosesExpert opinionCornificationPatientsCardiovascularContraceptionDevelopment or worsening of sarcoidosis associated with IL‐17 blockade for psoriasis
Hornick N, Wang A, Lim Y, Gehlhausen J, Siegel J, Wang J, Foss F, Lim I, Zubek A, Milstone L, Galan A, King B, Damsky W. Development or worsening of sarcoidosis associated with IL‐17 blockade for psoriasis. Journal Of The European Academy Of Dermatology And Venereology 2020, 34: e583-e585. PMID: 32277505, DOI: 10.1111/jdv.16451.Peer-Reviewed Case Reports and Technical NotesInterleukin‐17 blockade downregulates NOD2 in skin and may promote paradoxical sarcoidosis
Wang A, Hornick N, Lim Y, Gehlhausen J, Siegel J, Wang J, Foss F, Lim I, Zubek A, Milstone L, Galan A, King B, Damsky W. Interleukin‐17 blockade downregulates NOD2 in skin and may promote paradoxical sarcoidosis. Journal Of The European Academy Of Dermatology And Venereology 2020, 34: e497-e499. PMID: 32249470, DOI: 10.1111/jdv.16416.Peer-Reviewed Case Reports and Technical Notes
2019
Association of the Severity of Alopecia With the Severity of Ichthyosis
Putterman E, Zaki T, Milstone L, Choate K, Castelo-Soccio L. Association of the Severity of Alopecia With the Severity of Ichthyosis. JAMA Dermatology 2019, 155: 1077-1078. PMID: 31365037, PMCID: PMC6669775, DOI: 10.1001/jamadermatol.2019.1520.Peer-Reviewed Case Reports and Technical NotesAlterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E
Lilly E, Strickler M, Milstone LM, Bunick CG. Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E. Journal Of Dermatological Science 2019, 95: 119-122. PMID: 31331740, PMCID: PMC7263394, DOI: 10.1016/j.jdermsci.2019.07.002.Peer-Reviewed Original Research
2018
Mutations in PERP Cause Dominant and Recessive Keratoderma
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A. Mutations in PERP Cause Dominant and Recessive Keratoderma. Journal Of Investigative Dermatology 2018, 139: 380-390. PMID: 30321533, PMCID: PMC6586468, DOI: 10.1016/j.jid.2018.08.026.Peer-Reviewed Original ResearchConceptsC-terminal truncationsIntercellular adhesionEpidermal biologyEpidermal differentiation markersEpidermal homeostasisDesmosomal componentsDesmosomal proteinsGenetic determinantsDifferentiation markersEssential roleMutationsUnrelated kindredsDesmosomesProteinPERPOlmsted syndromePalmoplantar keratodermaGenesCrucial componentHeterozygosityBiologyHomeostasisKeratinization disordersKeratodermaHomozygosityMore than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM. More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. Journal Of The American Academy Of Dermatology 2018, 80: 617-625. PMID: 30287322, PMCID: PMC6372339, DOI: 10.1016/j.jaad.2018.09.042.Peer-Reviewed Original ResearchCARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. Journal Of The American Academy Of Dermatology 2018, 79: 487-494. PMID: 29477734, PMCID: PMC6098739, DOI: 10.1016/j.jaad.2018.02.034.Peer-Reviewed Original ResearchConceptsPityriasis rubra pilarisPapulosquamous eruptionPsoriasis therapyFamily historyCARD14 mutationsRegistry of subjectsFeatures of psoriasisSystemic psoriasis therapiesSpectrum of diseaseDisorders of keratinizationWhole-exome sequencingOral retinoidsClinical characteristicsClinical featuresClinical historyTumor necrosisDiagnostic uncertaintyFamilial pityriasis rubra pilarisProminent involvementPsoriasisGenetic testingHeterozygous mutationsExome sequencingMinimal responseSmall sample size
2017
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez‐Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. British Journal Of Dermatology 2017, 177: 319-322. PMID: 28403545, PMCID: PMC5522355, DOI: 10.1111/bjd.15570.Peer-Reviewed Original ResearchEstablishing and Validating an Ichthyosis Severity Index
Marukian NV, Deng Y, Gan G, Ren I, Thermidor W, Craiglow BG, Milstone LM, Choate KA. Establishing and Validating an Ichthyosis Severity Index. Journal Of Investigative Dermatology 2017, 137: 1834-1841. PMID: 28596001, DOI: 10.1016/j.jid.2017.04.037.Peer-Reviewed Original ResearchConceptsIchthyosis severityDisorders of keratinizationIntrarater intraclass correlation coefficientsIntraclass correlation coefficientTherapeutic responseClinical trialsClinical phenotypingLevels of severityBody sitesErythemaSeverity IndexSeverityInterrater reliabilityPerson evaluationDermatologistsVisual indexSubjectsIndexVisual standardsSettingKeratinizationTrialsDifferent settingsExpanding the Genotypic Spectrum of Bathing Suit Ichthyosis
Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. JAMA Dermatology 2017, 153: 537-543. PMID: 28403434, PMCID: PMC5817618, DOI: 10.1001/jamadermatol.2017.0202.Peer-Reviewed Original Research452 Alterations to connexin 26 protein structure caused by the lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E
Bunick C, Lilly E, Milstone L. 452 Alterations to connexin 26 protein structure caused by the lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E. Journal Of Investigative Dermatology 2017, 137: s78. DOI: 10.1016/j.jid.2017.02.471.Peer-Reviewed Original Research291 Establishing and validating an ichthyosis severity index
Marukian N, Deng Y, Gan G, Ren I, Thermidor W, Craiglow B, Milstone L, Choate K. 291 Establishing and validating an ichthyosis severity index. Journal Of Investigative Dermatology 2017, 137: s50. DOI: 10.1016/j.jid.2017.02.307.Peer-Reviewed Original Research