2015
Gene expression profiling in pachyonychia congenita skin
Cao YA, Hickerson RP, Seegmiller BL, Grapov D, Gross MM, Bessette MR, Phinney BS, Flores MA, Speaker TJ, Vermeulen A, Bravo AA, Bruckner AL, Milstone LM, Schwartz ME, Rice RH, Kaspar RL. Gene expression profiling in pachyonychia congenita skin. Journal Of Dermatological Science 2015, 77: 156-165. PMID: 25656049, PMCID: PMC4374015, DOI: 10.1016/j.jdermsci.2015.01.001.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaTape-strip samplesPlantar skinSerine protease inhibitorNon-PC controlsPainful plantar keratodermaSkin barrier homeostasisPC patientsPatient groupControl volunteersMajor symptomsSkin biopsiesPC pathogenesisPlantar keratodermaPathogenic sequelaeSkin disordersBarrier homeostasisPatient samplesGene expression profilingKeratinocyte proliferationEnvelope proteinBiopsyMRNA analysisProtease inhibitorsSkin
2011
An 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
2009
First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder
Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Kornbrust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL. First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder. Molecular Therapy 2009, 18: 442-446. PMID: 19935778, PMCID: PMC2839285, DOI: 10.1038/mt.2009.273.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaPhase Ib clinical trialSubjective patient assessmentPhase Ib trialDose-escalation trialClinical efficacy measuresAutosomal dominant syndromeIb trialAdverse eventsWashout periodPatient assessmentEfficacy measuresPlantar callusClinical trialsPlantar keratodermaOpposite footSkin disordersSkin diseasesClinical settingDominant syndromeSatisfactory treatmentAdditional studiesTrialsGenetic disordersSiRNA
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 ResearchConceptsPachyonychia 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 cysts