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
1993
Secondary Hyperparathyroidism in Patients With Ichthyosis Is Not Caused by Vitamin D Deficiency or Ingestion of Retinoids
Milstone L, Bale S, Insogna K. Secondary Hyperparathyroidism in Patients With Ichthyosis Is Not Caused by Vitamin D Deficiency or Ingestion of Retinoids. JAMA Dermatology 1993, 129: 648-648. PMID: 8481031, DOI: 10.1001/archderm.1993.01680260120024.Peer-Reviewed Original ResearchConceptsSecondary hyperparathyroidismParathyroid hormoneVitamin DSerum PTH valuesVitamin D deficiencyDisorders of keratinizationNonbullous ichthyosiform erythrodermaD deficiencyPTH levelsPTH valuesClinical findingsBiopsy specimensPatientsDarier's diseaseIchthyosis vulgarisIchthyosiform erythrodermaPlasma samplesLamellar ichthyosisHyperparathyroidismEpidermolytic hyperkeratosisSeparate groupsDiseaseIchthyosisInheritance patternNew Haven