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
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
More 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 settings
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
Frequent 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
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
Zambrano H, Montalvan M, Cabezas J, Lu Y, Yang CS, Milstone LM, Choate K. Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. International Journal Of Dermatology 2013, 53: e312-e313. PMID: 24261627, PMCID: PMC4861992, DOI: 10.1111/ijd.12227.Peer-Reviewed Original ResearchTopical Tazarotene for the Treatment of Ectropion in Ichthyosis
Craiglow BG, Choate KA, Milstone LM. Topical Tazarotene for the Treatment of Ectropion in Ichthyosis. JAMA Dermatology 2013, 149: 598-600. PMID: 23677086, PMCID: PMC3809825, DOI: 10.1001/jamadermatol.2013.239.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdministration, CutaneousAgedEctropionFemaleHumansIchthyosisKeratolytic AgentsNicotinic AcidsConceptsTreatment of ectropionTopical tazaroteneBilateral lower eyelid ectropionGroup of patientsStandard of carePotential treatment optionLower eyelid ectropionPotential effective treatmentTopical retinoidsMedical therapySurgical interventionTreatment optionsEyelid ectropionCosmetic consequencesEffective treatmentCertain subtypesPatientsEctropionPersistent improvementDaily applicationTazaroteneAdditional studiesAdverse effectsRetinoidsIchthyosisSystemic 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 usefulnessAcetretinEtretinateManagement of ichthyosis and related conditions gene‐based diagnosis and emerging gene‐based therapy
Richard G, Choate K, Milstone L, Bale S. Management of ichthyosis and related conditions gene‐based diagnosis and emerging gene‐based therapy. Dermatologic Therapy 2013, 26: 55-68. PMID: 23384021, DOI: 10.1111/j.1529-8019.2012.01553.x.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsMolecular basis
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 Research
2011
Meeting Report from Frontiers in Ichthyosis Research
Milstone LM, Rizzo WB, Pickford JR. Meeting Report from Frontiers in Ichthyosis Research. Journal Of Investigative Dermatology 2011, 131: 279-282. PMID: 21228807, PMCID: PMC6028019, DOI: 10.1038/jid.2010.338.Commentaries, Editorials and Letters
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 conferenceScaly skin and bath pH: Rediscovering baking soda
Milstone LM. Scaly skin and bath pH: Rediscovering baking soda. Journal Of The American Academy Of Dermatology 2010, 62: 885-886. PMID: 20398816, DOI: 10.1016/j.jaad.2009.04.011.Commentaries, Editorials and Letters
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 ResearchMeSH KeywordsAdultFemaleHumansHyperparathyroidism, SecondaryIchthyosisMaleMiddle AgedRetinoidsVitamin D DeficiencyConceptsSecondary 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