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
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