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
2016
Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin
Marukian NV, Levinsohn JL, Craiglow BG, Milstone LM, Choate KA. Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin. Pediatric Dermatology 2016, 34: 160-162. PMID: 28008647, DOI: 10.1111/pde.13057.Peer-Reviewed Original ResearchMeSH KeywordsAcitretinCostello SyndromeFemaleHumansKeratoderma, PalmoplantarKeratolytic AgentsYoung AdultConceptsCostello syndromePalmoplantar keratodermaCoarse facial featuresMultisystem congenital disorderSevere palmoplantar keratodermaDermatologic findingsAcanthosis nigricansKeratosis pilarisSystemic administrationSevere casesCardiac defectsCutaneous papillomasSkin redundancyCongenital disorderIntellectual disabilityAcitretinFunctional consequencesKeratodermaPatientsMalignancyPapillomasPilarisSyndromeAdministrationFacial features
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 Research
2011
A Large Mutational Study in Pachyonychia Congenita
Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ. A Large Mutational Study in Pachyonychia Congenita. Journal Of Investigative Dermatology 2011, 131: 1018-1024. PMID: 21326300, DOI: 10.1038/jid.2011.20.Peer-Reviewed Original ResearchMeSH KeywordsDNA Mutational AnalysisGenes, DominantHumansKeratin-16Keratin-17Keratin-6Keratoderma, PalmoplantarMutationPachyonychia CongenitaConceptsPachyonychia congenitaFrame insertion/deletion mutationsPainful palmoplantar keratodermaAdditional clinical featuresHeterozygous splice site mutationClinical featuresFollicular keratosisRare autosomal dominant skin disorderOral leukokeratosisNail dystrophyAutosomal dominant skin disorderSkin disordersHeterozygous missenseClinical diagnosisHeterozygous mutationsDominant skin disorderHotspot codonsPalmoplantar keratodermaKRT6AKRT16KRT17Splice site mutationKRT6BCongenitaPersonalized medicine
2005
Clinical and Pathological Features of Pachyonychia Congenita
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane E. Clinical and Pathological Features of Pachyonychia Congenita. Journal Of Investigative Dermatology Symposium Proceedings 2005, 10: 3-17. PMID: 16250204, DOI: 10.1111/j.1087-0024.2005.10202.x.Peer-Reviewed Original ResearchMeSH KeywordsDarier DiseaseEctodermal DysplasiaFemaleGenes, DominantGenotypeHumansKeratinsKeratoderma, PalmoplantarMaleMutationNails, MalformedPhenotypeConceptsPachyonychia congenitaPainful plantar keratodermaUnreported clinical featuresVariable clinical findingsPossible pathogenic mechanismsEarly primary tooth lossPrimary tooth lossNipple lesionsPC patientsAmbulatory aidsNatal teethClinical featuresClinical findingsFollicular keratosisLaryngeal involvementProspective evaluationPathological featuresTooth lossPalmar keratodermaOral mucosaResearch RegistryOral leukokeratosisPlantar keratodermaPathogenic mechanismsCutaneous cystsTreatment of Pachyonychia Congenita
Milstone LM, Fleckman P, Leachman SA, Leigh IM, Paller AS, van Steensel MA, Swartling C. Treatment of Pachyonychia Congenita. Journal Of Investigative Dermatology Symposium Proceedings 2005, 10: 18-20. PMID: 16250205, DOI: 10.1111/j.1087-0024.2005.10203.x.Peer-Reviewed Original ResearchMeSH KeywordsDarier DiseaseEctodermal DysplasiaFemaleHumansKeratinsKeratoderma, PalmoplantarMaleMutationNails, MalformedGene Therapy for Autosomal Dominant Disorders of Keratin
Lewin AS, Glazer PM, Milstone LM. Gene Therapy for Autosomal Dominant Disorders of Keratin. Journal Of Investigative Dermatology Symposium Proceedings 2005, 10: 47-61. PMID: 16250209, DOI: 10.1111/j.1087-0024.2005.10207.x.Commentaries, Editorials and LettersMeSH KeywordsAnimalsDarier DiseaseDependovirusEctodermal DysplasiaEpidermolysis Bullosa SimplexGene SilencingGene TargetingGenes, DominantGenetic TherapyGenetic VectorsHumansKeratinsKeratoderma, PalmoplantarMiceMutationNails, MalformedOligonucleotides, AntisenseRNA InterferenceRNA, CatalyticRNA, Small InterferingConceptsRNA knockdown approachGene correctionGene therapyViral vectorsEpidermal skin cellsKeratin diseasesKnockdown approachRNA interferenceGene expressionEpidermolysis bullosa simplexToxic proteinsDominant mutationsGenetic diseasesGenetic therapiesKeratin filamentsEpidermal diseasesGenetic defectsTissue cultureSelective inhibitorSkin cellsAttractive alternativeAutosomal dominant disorderRecent innovationsDominant disorderNear future