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 Notes
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