2021
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita
Wu TT, Eldirany SA, Bunick CG, Teng JMC. Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita. Journal Of Investigative Dermatology 2021, 141: 2876-2884.e4. PMID: 34116063, PMCID: PMC8922998, DOI: 10.1016/j.jid.2021.03.035.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaInternational PC Research RegistryPainful palmoplantar keratodermaPhenotype correlationNatal teethNail involvementClinical manifestationsKeratin subtypesFollicular hyperkeratosisResearch RegistryOral leukokeratosisPC pathogenesisNail dystrophyPathologic alterationsCutaneous cystsDisease pathogenesisHotspot missense mutationsPatientsClinical phenotypeGreater impairmentGenetic testingHigh-frequency mutationsTherapeutic developmentPalmoplantar keratodermaGenetic disorders
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
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