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 disordersKeratodermaHomozygosity
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 ResearchNail removal in pachyonychia congenita: Patient-reported survey outcomes
DeKlotz CMC, Schwartz ME, Milstone LM. Nail removal in pachyonychia congenita: Patient-reported survey outcomes. Journal Of The American Academy Of Dermatology 2017, 76: 990-992. PMID: 28411774, DOI: 10.1016/j.jaad.2016.08.060.Peer-Reviewed Original Research
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
2011
Pityriasis rubra pilaris: the clinical context of acantholysis and other histologic features
Ko CJ, Milstone LM, Choi J, McNiff JM. Pityriasis rubra pilaris: the clinical context of acantholysis and other histologic features. International Journal Of Dermatology 2011, 50: 1480-1485. PMID: 22097993, DOI: 10.1111/j.1365-4632.2011.04990.x.Peer-Reviewed Original ResearchConceptsCases of PRPPityriasis rubra pilarisCases of erythrodermaCases of psoriasisHistologic featuresClinical contextCorrect clinical settingPresence of acantholysisHailey-Hailey diseaseLichenoid infiltratePapulosquamous lesionsPemphigus vulgarisFocal acantholysisHistologic cluesErythrodermaDarier's diseaseAcantholysisClinical settingDermatology literatureDiseasePsoriasisBiopsyDifferent causesDiagnosisInfiltratesAn appraisal of oral retinoids in the treatment of pachyonychia congenita
Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M. An appraisal of oral retinoids in the treatment of pachyonychia congenita. Journal Of The American Academy Of Dermatology 2011, 66: e193-e199. PMID: 21601946, DOI: 10.1016/j.jaad.2011.02.003.Peer-Reviewed Original ResearchConceptsOral retinoidsOral retinoid treatmentPachyonychia congenitaAdverse effectsRetinoid treatmentVisual analog pain scaleSatisfaction scoresCareful dose titrationPainful plantar keratodermaAnalog pain scaleRetrospective cross-sectional surveyCross-sectional study designOverall satisfaction scoreRisk/benefit analysisCross-sectional surveyPotential adverse effectsPlantar painDose titrationPain scalePain changeClinical scoresNail changesPatient's perspectivePlantar keratodermaNail dystrophy
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
2009
First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder
Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Kornbrust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL. First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder. Molecular Therapy 2009, 18: 442-446. PMID: 19935778, PMCID: PMC2839285, DOI: 10.1038/mt.2009.273.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaPhase Ib clinical trialSubjective patient assessmentPhase Ib trialDose-escalation trialClinical efficacy measuresAutosomal dominant syndromeIb trialAdverse eventsWashout periodPatient assessmentEfficacy measuresPlantar callusClinical trialsPlantar keratodermaOpposite footSkin disordersSkin diseasesClinical settingDominant syndromeSatisfactory treatmentAdditional studiesTrialsGenetic disordersSiRNA
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
2002
Is retinoid-induced osteopenia reversible?
Milstone AM, Milstone LM. Is retinoid-induced osteopenia reversible? JAMA Dermatology 2002, 138: 1516-7. PMID: 12437467, DOI: 10.1001/archderm.138.11.1516-a.Commentaries, Editorials and Letters
1999
Bone Densities in Patients Receiving Isotretinoin for Cystic Acne
Leachman SA, Insogna KL, Katz L, Ellison A, Milstone LM. Bone Densities in Patients Receiving Isotretinoin for Cystic Acne. JAMA Dermatology 1999, 135: 961-965. PMID: 10456346, DOI: 10.1001/archderm.135.8.961.Peer-Reviewed Original ResearchConceptsCystic acneBone densityWard's triangleCalcium metabolismHealthy control subjectsYoung menIsotretinoin useOral isotretinoinPatient groupControl subjectsMean changeHealthy volunteersControl groupAcnePatientsMeasurable alterationsIsotretinoinFurther studiesOsteoporosisDecreased densityRetinoidsMetabolismMenBoneDirect effect
1995
Histologic findings in acute HIV exanthem
Goldman G, Milstone L, Shapiro P. Histologic findings in acute HIV exanthem. Journal Of Cutaneous Pathology 1995, 22: 371-373. PMID: 7499579, DOI: 10.1111/j.1600-0560.1995.tb01422.x.Peer-Reviewed Case Reports and Technical NotesGeneralized Linear Porokeratosis Treated With Etretinate
Goldman G, Milstone L. Generalized Linear Porokeratosis Treated With Etretinate. JAMA Dermatology 1995, 131: 496-497. DOI: 10.1001/archderm.1995.01690160126029.Peer-Reviewed Case Reports and Technical NotesConceptsLinear porokeratosisLesions of porokeratosisSquamous cell carcinomaTopical vitamin AYears of ageBowen's diseaseHistologic confirmationTherapeutic challengeVerrucous plaquesCell carcinomaVerrucous lesionsTreatment recommendationsD ointmentVitamin AOnly treatmentPorokeratosisLesionsAnterior partWhite menExtensive casesDiseaseBirthRecreational activitiesEtretinateCarcinoma
1993
Secondary Hyperparathyroidism in Patients With Ichthyosis Is Not Caused by Vitamin D Deficiency or Ingestion of Retinoids
Milstone L, Bale S, Insogna K. Secondary Hyperparathyroidism in Patients With Ichthyosis Is Not Caused by Vitamin D Deficiency or Ingestion of Retinoids. JAMA Dermatology 1993, 129: 648-648. PMID: 8481031, DOI: 10.1001/archderm.1993.01680260120024.Peer-Reviewed Original ResearchConceptsSecondary hyperparathyroidismParathyroid hormoneVitamin DSerum PTH valuesVitamin D deficiencyDisorders of keratinizationNonbullous ichthyosiform erythrodermaD deficiencyPTH levelsPTH valuesClinical findingsBiopsy specimensPatientsDarier's diseaseIchthyosis vulgarisIchthyosiform erythrodermaPlasma samplesLamellar ichthyosisHyperparathyroidismEpidermolytic hyperkeratosisSeparate groupsDiseaseIchthyosisInheritance patternNew Haven
1992
Serum Parathyroid Hormone Level Is Elevated in Some Patients With Disorders of Keratinization
Milstone LM, Ellison AF, Insogna KL. Serum Parathyroid Hormone Level Is Elevated in Some Patients With Disorders of Keratinization. JAMA Dermatology 1992, 128: 926-930. PMID: 1320849, DOI: 10.1001/archderm.1992.01680170058005.Peer-Reviewed Original ResearchConceptsDisorders of keratinizationPityriasis rubra pilarisPTH levelsSecondary hyperparathyroidismPTH valuesSerum parathyroid hormone levelsNormal PTH valuesParathyroid hormone valuesSerum PTH valuesParathyroid hormone levelsSerum PTH levelsElevated PTH levelsHigh calcium dietIchthyosis linearis circumflexaCongenital ichthyosiform erythrodermaSecond patientBullous congenital ichthyosiform erythrodermaExact prevalenceCalcium metabolismHormone valuesHormone levelsPatientsActive PTHPhysiologic significanceDifferent disorders
1988
In vivo fluorescence of human skin. A potential marker of photoaging.
Leffell DJ, Stetz ML, Milstone LM, Deckelbaum LI. In vivo fluorescence of human skin. A potential marker of photoaging. JAMA Dermatology 1988, 124: 1514-8. PMID: 3421727, DOI: 10.1001/archderm.124.10.1514.Peer-Reviewed Original Research