2022
The 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
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 Research
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
2016
Well-Differentiated Syringofibrocarcinoma in a Patient With Clouston Syndrome
Odell ID, Lilly E, Reeve K, Bosenberg MW, Milstone LM. Well-Differentiated Syringofibrocarcinoma in a Patient With Clouston Syndrome. JAMA Dermatology 2016, 152: 484. PMID: 26792110, DOI: 10.1001/jamadermatol.2015.4496.Peer-Reviewed Case Reports and Technical NotesRecurrent 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 TransportTransfectionPhenotypic Expansion in Ichthyosis With Confetti
Choate KA, Milstone LM. Phenotypic Expansion in Ichthyosis With Confetti. JAMA Dermatology 2015, 151: 15-16. PMID: 25210951, PMCID: PMC6319358, DOI: 10.1001/jamadermatol.2014.2525.Commentaries, Editorials and Letters
2013
Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation
Koochek A, Choate KA, Milstone LM. Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation. Pediatric Dermatology 2013, 31: e63-e64. PMID: 24274932, DOI: 10.1111/pde.12263.Peer-Reviewed Original Research
2012
Incidence of Moderate to Severe Ichthyosis in the United States
Milstone LM, Miller K, Haberman M, Dickens J. Incidence of Moderate to Severe Ichthyosis in the United States. JAMA Dermatology 2012, 148: 1080-1081. PMID: 22986871, DOI: 10.1001/archdermatol.2012.1702.Peer-Reviewed Original ResearchImpact of epidermal desquamation on tissue stores of iron
Milstone LM, Hu RH, Dziura JD, Zhou J. Impact of epidermal desquamation on tissue stores of iron. Journal Of Dermatological Science 2012, 67: 9-14. PMID: 22575277, PMCID: PMC3374011, DOI: 10.1016/j.jdermsci.2012.04.003.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntimicrobial Cationic PeptidesCell ProliferationDisease Models, AnimalEpidermisFemaleGene Expression RegulationHemochromatosisHemochromatosis ProteinHepcidinsHistocompatibility Antigens Class IHomeostasisHuman papillomavirus 16HumansIronKidneyLiverMaleMembrane ProteinsMiceMice, 129 StrainMice, Inbred C57BLMice, KnockoutMice, TransgenicPapillomavirus InfectionsReceptors, TransferrinConceptsIron metabolismDifferent mouse modelsSignificant reductionHPV16 E7 geneSystemic iron metabolismSystemic proteinsIron statusMouse modelTissue storesE7 genesSystemic levelsEpidermal turnoverInternal organsEpidermal desquamationTransferrin receptorMetabolic studiesKnockout modelsCorneocyte desquamationDesquamationKidneyHuman skinEpidermal homeostasisMetabolismEpidermisSkin
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 conferenceMitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science 2010, 330: 94-97. PMID: 20798280, PMCID: PMC3085938, DOI: 10.1126/science.1192280.Peer-Reviewed Original ResearchAmino Acid SequenceCell NucleolusChromosome MappingChromosomes, Human, Pair 17FemaleFrameshift MutationHumansIchthyosiform Erythroderma, CongenitalIntermediate FilamentsKeratin-10KeratinsLoss of HeterozygosityMaleMitosisMolecular Sequence DataMosaicismMutant ProteinsRecombination, GeneticSelection, GeneticSkin
2005
Iron in Skin of Mice with Three Etiologies of Systemic Iron Overload
Adams BD, Lazova R, Andrews NC, Milstone LM. Iron in Skin of Mice with Three Etiologies of Systemic Iron Overload. Journal Of Investigative Dermatology 2005, 125: 1200-1205. PMID: 16354190, PMCID: PMC2243217, DOI: 10.1111/j.0022-202x.2005.23949.x.Peer-Reviewed Original ResearchConceptsSystemic iron overloadHigh-iron dietSkin ironIron overloadIron dietIron levelsSkin of miceTissue iron levelsCutaneous manifestationsSkin of individualsSkin toxicityHistological abnormalitiesHistological changesMouse modelParenteral injectionParenteral administrationHereditary hemochromatosisTissue toxicityHuman hemochromatosisMiceSkin histologyHemochromatosis geneHemochromatosisHigh dietDermis