2014
The molecular genetic analysis of the expanding pachyonychia congenita case collection
Wilson N, O'Toole E, Milstone L, Hansen C, Shepherd A, Al‐Asadi E, Schwartz M, McLean W, Sprecher E, Smith F. The molecular genetic analysis of the expanding pachyonychia congenita case collection. British Journal Of Dermatology 2014, 171: 343-355. PMID: 24611874, PMCID: PMC4282083, DOI: 10.1111/bjd.12958.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaInternational Pachyonychia Congenita Research RegistryClinical diagnosisPeripheral blood leucocytesFollicular keratosisResearch RegistryBlood leucocytesOral leucokeratosisNail dystrophyKeratin mutationsUnreported mutationsPalmoplantar keratodermaChain reaction productsCase collectionDiagnosisKRT6CKRT6APolymerase chain reaction productsMolecular genetic analysisKRT6BKRT16KRT17Keratin genesMutationsTotal number
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 dystrophyA 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 ResearchConceptsPachyonychia 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