2025
Reliability of the Ichthyosis Scoring System in Individuals With Skin of Color
Luo A, Arkin L, Asch S, Benjamin L, Bruckner A, Cossio M, Diaz L, Lilly E, Mathes E, Nelson C, Pope E, Ramachandran S, Siegel D, Teng J, Xu Y, Deng Y, Paller A, Choate K. Reliability of the Ichthyosis Scoring System in Individuals With Skin of Color. JAMA Dermatology 2025, 161: 849-854. PMID: 40632523, PMCID: PMC12242821, DOI: 10.1001/jamadermatol.2025.1965.Peer-Reviewed Original ResearchConceptsInterrater intraclass correlation coefficientsCross-sectional studySkin of colorSkin typeIntraclass correlation coefficientPatient advocacy groupsRandom-effects modelMain OutcomesInterrater reliabilityEnrolling participantsReferral centerAmerican IndiansClinical trialsConfidence intervalsUpper backAdvocacy groupsIchthyosisScoring systemDorsal footPacific IslandersBody sitesUpper armPhototypeEffects modelInterrater0544 Cutaneous features of SDR9C7 mutation in seven patients with autosomal recessive congenital ichthyosis
Echeandia-Francis C, Siegel D, Paller A, Choate K. 0544 Cutaneous features of SDR9C7 mutation in seven patients with autosomal recessive congenital ichthyosis. Journal Of Investigative Dermatology 2025, 145: s94. DOI: 10.1016/j.jid.2025.06.551.Peer-Reviewed Original ResearchAn analysis of preterm birth rates among 500 kindreds with epidermal differentiation disorders
Echeandia-Francis C, Choate K. An analysis of preterm birth rates among 500 kindreds with epidermal differentiation disorders. British Journal Of Dermatology 2025, ljaf308. PMID: 40713913, DOI: 10.1093/bjd/ljaf308.Peer-Reviewed Original ResearchGenotype-environment-driven dysbiosis in the skin microbiome of ichthyosis
Zhou W, Ring N, Caldwell R, Milstone L, Oh J. Genotype-environment-driven dysbiosis in the skin microbiome of ichthyosis. Journal Of Investigative Dermatology 2025 PMID: 40571157, PMCID: PMC12221215, DOI: 10.1016/j.jid.2025.06.1568.Peer-Reviewed Original ResearchSkin microbiomeMetabolic pathway levelTransepidermal water lossHost covariatesMetabolic potentialMicrobiome featuresPathway levelImpact hostCutaneous microbiomeMicrobiomeGroup of patientsGenotypesComplex interactionsTGM1Environmental factorsRetinoid usePhenotypeWater lossHostIchthyosisClinical treatmentDiseased skinGenotype-relatedDysbiosisSkinNonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Akiyama M, Choate K, Hernandez-Martin A, Aldwin-Easton M, Bodemer C, Gostyński A, Hovnanian A, Ishida-Yamamoto A, Malovitski K, O’Toole E, Paller A, Schmuth M, Schwartz J, Sprecher E, Teng J, Tournier C, Mazereeuw-Hautier J, Tadini G, Fischer J. Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy. British Journal Of Dermatology 2025, 193: 619-641. PMID: 40308026, DOI: 10.1093/bjd/ljaf154.Peer-Reviewed Original ResearchDisease-associated genesAutosomal recessive congenital ichthyosisDevelopment of targeted therapiesGene-based classificationErythrokeratodermia variabilis et progressivaExtensive cutaneous involvementAbnormal epidermal differentiationDarier-White diseaseHailey-Hailey diseaseCutaneous involvementGenetic changesCongenital ichthyosisTargeted therapyPhenotypic characteristicsAltered genesAdnexal structuresPalmoplantar keratodermaTherapeutic guidanceSyndrome subtypesClinical relevanceExtracutaneous tissuesDifferentiation disordersHystrixIchthyosisInherited condition
2024
51523 The Phase 3 Vehicle-Controlled ASCEND Trial of Polyethylene Glycol Based Topical Isotretinoin (TMB-001 0.05% ointment) for Treatment of X-Linked and Autosomal Recessive Congenital Ichthyosis: Pharmacokinetic Results Compared with 80 mg Oral Isotretinoin
Bunick C, Huynh T, Jackson M, Lee L, Kempers S, Mendelsohn A, Eursken B, Ahson A, Raiz J, MC. Teng J. 51523 The Phase 3 Vehicle-Controlled ASCEND Trial of Polyethylene Glycol Based Topical Isotretinoin (TMB-001 0.05% ointment) for Treatment of X-Linked and Autosomal Recessive Congenital Ichthyosis: Pharmacokinetic Results Compared with 80 mg Oral Isotretinoin. Journal Of The American Academy Of Dermatology 2024, 91: ab332. DOI: 10.1016/j.jaad.2024.07.1321.Peer-Reviewed Original ResearchIn‐person validation of the Ichthyosis Scoring System
Echeandia‐Francis C, Sun Q, Asch S, Bayart C, Benjamin L, Cipriano S, Craiglow B, Dyer J, Levy M, Lilly E, Newell B, Liang J, Gan G, Deng Y, Paller A, Choate K. In‐person validation of the Ichthyosis Scoring System. Pediatric Dermatology 2024, 41: 247-252. PMID: 38234066, DOI: 10.1111/pde.15508.Peer-Reviewed Original ResearchInterrater intraclass correlation coefficientsIntrarater reliabilityIn-personIntraclass correlation coefficientIn-person evaluationContent validityInterrater reliabilityHeterogeneous group of skin disordersGroup of skin disordersIntraraterMedical professionalsInterrater agreementErythema evaluationIchthyosis subtypesPhotographic evaluationErythema scoreInterraterErythemaQuantify severitySkin disordersClinical utilityIchthyosisScoring systemHeterogeneous groupCorrelation coefficient
2023
Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis
Murrell D, Teng J, Guenthner S, Marathe K, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn A, Raiz J, Bunick C. Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis. Clinical And Experimental Dermatology 2023, 48: 623-630. PMID: 36794376, DOI: 10.1093/ced/llad033.Peer-Reviewed Original ResearchConceptsAdverse eventsVehicle groupControl studyGlobal assessmentInvestigator's Global AssessmentMost adverse eventsApplication site reactionsTopical treatment optionsProportion of participantsIGA scoreCutaneous manifestationsMean agePhase IIbTreatment optionsCongenital ichthyosisSubtypesAutosomal recessive lamellar ichthyosisOintment formulationLamellar ichthyosisRecessive ichthyosisIchthyosisScoresBaselineGreater proportionParticipants
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 environmentGroupCasesCliniciansMutations in KRT10 in epidermolytic acanthoma
Cheraghlou S, Atzmony L, Roy SF, McNiff JM, Choate KA. Mutations in KRT10 in epidermolytic acanthoma. Journal Of Cutaneous Pathology 2020, 47: 524-529. PMID: 32045015, PMCID: PMC7914398, DOI: 10.1111/cup.13664.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingEpidermolytic acanthomaEpidermolytic hyperkeratosisHotspot mutationsCharacteristic histopathological patternEpidermolytic ichthyosisHistopathological patternsHistopathological analysisDiscovery cohortLesional tissueAdditional casesPolymerase chain reaction amplificationEpidermal degenerationChain reaction amplificationFragment length polymorphism analysisRestriction fragment length polymorphism analysisLength polymorphism analysisDermatosesIchthyosis bullosaAcanthomaKRT10Departmental archivesReaction amplificationIchthyosisPolymorphism analysis
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
2013
Topical 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 NotesConceptsTreatment 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 effectsRetinoidsIchthyosisIchthyosis in the newborn
Craiglow BG. Ichthyosis in the newborn. Seminars In Perinatology 2013, 37: 26-31. PMID: 23419760, PMCID: PMC3758581, DOI: 10.1053/j.semperi.2012.11.001.Peer-Reviewed Original Research
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
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