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 Statements
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 opinionCornificationPatientsCardiovascularContraception
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 disordersKeratodermaHomozygosityCARD14-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 ResearchExpanding 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 Research
2016
Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis
Damsky WE, Leventhal JS, Khalil D, Vesely MD, Craiglow BG, Milstone LM, Choate KA. Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis. Pediatric Dermatology 2016, 33: e140-e142. PMID: 26821985, PMCID: PMC7226923, DOI: 10.1111/pde.12769.Peer-Reviewed Case Reports and Technical Notes
2015
Expanding the Phenotypic Spectrum of Olmsted Syndrome
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, McLean WH, Smith FJ. Expanding the Phenotypic Spectrum of Olmsted Syndrome. Journal Of Investigative Dermatology 2015, 135: 2879-2883. PMID: 26067147, PMCID: PMC4652067, DOI: 10.1038/jid.2015.217.Peer-Reviewed Original ResearchFrequent somatic reversion of KRT1 mutations in ichthyosis with confetti
Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. Journal Of Clinical Investigation 2015, 125: 1703-1707. PMID: 25774499, PMCID: PMC4396494, DOI: 10.1172/jci64415.Peer-Reviewed Original ResearchAdultAge of OnsetAmino Acid SequenceCell Line, TumorCell NucleusChildChild, PreschoolChromosomes, Human, Pair 12CytoskeletonFrameshift MutationHumansIchthyosisIntermediate FilamentsKeratin-1KeratinocytesLoss of HeterozygosityMaleMolecular Sequence DataMosaicismPhenotypePolymorphism, Single NucleotideProtein TransportTransfection
2013
Systemic retinoids in the management of ichthyoses and related skin types
DiGiovanna JJ, Mauro T, Milstone LM, Schmuth M, Toro JR. Systemic retinoids in the management of ichthyoses and related skin types. Dermatologic Therapy 2013, 26: 26-38. PMID: 23384018, PMCID: PMC3884695, DOI: 10.1111/j.1529-8019.2012.01527.x.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSkin typeHigh-dose vitaminMainstay of therapyTeratogenic side effectsSystemic retinoidsTerm retinoidsCareful surveillanceLimit toxicityEffective therapyDemonstrated efficacySide effectsMucous membranesVitamin ASevere ichthyosisSynthetic retinoidsEarly useRetinoidsTherapyVariety of agesSynthetic derivativesEfficacyTreatmentLimited usefulnessAcetretinEtretinate
2010
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009
Oji V, Tadini G, Akiyama M, Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009. Journal Of The American Academy Of Dermatology 2010, 63: 607-641. PMID: 20643494, DOI: 10.1016/j.jaad.2009.11.020.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildCongresses as TopicDermatologic AgentsFemaleFranceGene Expression RegulationGenetic Predisposition to DiseaseHumansIchthyosiform Erythroderma, CongenitalIchthyosisInfantInfant, NewbornMalePractice Guidelines as TopicPrognosisSeverity of Illness IndexTerminology as TopicYoung AdultConceptsConsensus conference
2006
Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome)
Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM. Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome). Journal Of Investigative Dermatology 2006, 126: 2032-2038. PMID: 16741516, DOI: 10.1038/sj.jid.5700332.Peer-Reviewed Original ResearchConceptsNeutral lipid storage diseaseLipid storage diseaseBasal permeability barrier functionIchthyosiform erythrodermaType 2 Gaucher's diseaseSC intersticesStorage diseaseLamellar bodiesStratum corneum integrityBarrier recovery rateSecretion of lipidsAtopic dermatitisUnifying pathogenic mechanismBarrier dysfunctionPathogenic mechanismsTissue biopsiesPermeability barrier functionMultisystem abnormalitiesBarrier abnormalitiesClinical diagnosisLipid metabolismBlood smearsGaucher diseaseCGI-58Neutral lipid droplets
2001
Delayed‐onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16
Connors J, Rahil A, Smith F, Mclean W, Milstone L. Delayed‐onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. British Journal Of Dermatology 2001, 144: 1058-1062. PMID: 11359398, DOI: 10.1046/j.1365-2133.2001.04199.x.Peer-Reviewed Original Research
1982
Premature epiphyseal closure in a child receiving oral 13-cis-retinoic acid
Milstone L, McGuire J, Ablow R. Premature epiphyseal closure in a child receiving oral 13-cis-retinoic acid. Journal Of The American Academy Of Dermatology 1982, 7: 663-666. PMID: 6958690, DOI: 10.1016/s0190-9622(82)70148-3.Peer-Reviewed Original Research