2013
Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation
Koochek A, Choate KA, Milstone LM. Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation. Pediatric Dermatology 2013, 31: e63-e64. PMID: 24274932, DOI: 10.1111/pde.12263.Peer-Reviewed Original Research
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
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