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
A 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
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
1993
Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
Petty EM, Seashore MR, Braverman IM, Spiesel SZ, Smith LT, Milstone LM. Dermatosparaxis in children. A case report and review of the newly recognized phenotype. JAMA Dermatology 1993, 129: 1310-5. PMID: 8215497, DOI: 10.1001/archderm.129.10.1310.Peer-Reviewed Original ResearchConceptsMarked skin fragilityConnective tissue disordersUmbilical herniaTissue disordersBlue scleraeGrowth retardationSkin fragilityElectronmicroscopic findingsElectron microscopic findingsAutosomal recessive connective tissue disorderCharacteristic biochemicalCircular collagen fibersCase reportJoint laxityClinical diagnosisSkin laxityAbnormal processingLarge fontanellesConnective tissueAffected boyLaxityBruisabilityDisordersHerniaMicrognathiaDermatosparaxis in Children: A Case Report and Review of the Newly Recognized Phenotype
Petty E, Seashore M, Braverman I, Spiesel S, Smith L, Milstone L. Dermatosparaxis in Children: A Case Report and Review of the Newly Recognized Phenotype. JAMA Dermatology 1993, 129: 1310-1315. DOI: 10.1001/archderm.1993.01680310080014.Peer-Reviewed Original ResearchMarked skin fragilityConnective tissue disordersElectron microscopic findingsUmbilical herniaTissue disordersBlue scleraeGrowth retardationSkin fragilityAutosomal recessive connective tissue disorderCharacteristic biochemicalCircular collagen fibersCase reportJoint laxityClinical diagnosisElectronmicroscopic findingsSkin laxityAbnormal processingLarge fontanellesConnective tissueLaxityAffected boyBruisabilityDisordersHerniaMicrognathia