2006
Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome)
Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM. Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome). Journal Of Investigative Dermatology 2006, 126: 2032-2038. PMID: 16741516, DOI: 10.1038/sj.jid.5700332.Peer-Reviewed Original ResearchConceptsNeutral lipid storage diseaseLipid storage diseaseBasal permeability barrier functionIchthyosiform erythrodermaType 2 Gaucher's diseaseSC intersticesStorage diseaseLamellar bodiesStratum corneum integrityBarrier recovery rateSecretion of lipidsAtopic dermatitisUnifying pathogenic mechanismBarrier dysfunctionPathogenic mechanismsTissue biopsiesPermeability barrier functionMultisystem abnormalitiesBarrier abnormalitiesClinical diagnosisLipid metabolismBlood smearsGaucher diseaseCGI-58Neutral lipid droplets
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