2020
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
Zaenglein AL, Levy ML, Stefanko NS, Benjamin LT, Bruckner AL, Choate K, Craiglow BG, DiGiovanna JJ, Eichenfield LF, Elias P, Fleckman P, Lawley LP, Lewis RA, Lucky AW, Mathes EF, Milstone LM, Paller AS, Patel SS, Siegel DH, Teng J, Tanumihardjo SA, Thaxton L, Williams ML, Group P. Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. Pediatric Dermatology 2020, 38: 164-180. PMID: 33169909, PMCID: PMC7984068, DOI: 10.1111/pde.14408.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsUse of retinoidsSystemic retinoidsDisorders of cornificationLong-term useContraceptive concernsRetinoid useCardiovascular effectsHormonal contraceptionBone effectsConsensus recommendationsSide effectsClinical concernAvailable evidenceRetinoidsDisordersIchthyosesExpert opinionCornificationPatientsCardiovascularContraception
2008
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita
Leachman SA, Hickerson RP, Hull PR, Smith FJ, Milstone LM, Lane EB, Bale SJ, Roop DR, McLean WH, Kaspar RL. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. Journal Of Dermatological Science 2008, 51: 151-157. PMID: 18495438, PMCID: PMC2587483, DOI: 10.1016/j.jdermsci.2008.04.003.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaQuantitative RT-PCRRT-PCRReal-time RT-PCRQuantitative real-time RT-PCRClinical efficacyGenetic skin disordersClinical trialsCandidate siRNASkin disordersRNA interferenceNovel therapeuticsPotent inhibitionTherapeutic siRNAsClinical applicationDisordersGenetic disordersPhysiciansCongenitaMutant allelesSiRNAHuman diseasesKeratin disordersPatientsDisease
1993
Dermatosparaxis 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 boyBruisabilityDisordersHerniaMicrognathiaDermatosparaxis 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 boyLaxityBruisabilityDisordersHerniaMicrognathia
1992
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
Smith L, Wertelecki W, Milstone L, Petty E, Seashore M, Braverman I, Jenkins T, Byers P. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. American Journal Of Human Genetics 1992, 51: 235-44. PMID: 1642226, PMCID: PMC1682688.Peer-Reviewed Original ResearchConceptsAmino-terminal propeptideFragile skinType IConnective tissue disordersEhlers-Danlos syndromeLax jointsType VIIAffected animalsSkinChildrenCultured fibroblastsNormal cellsEhlers-Danlos syndrome type VIIPro alphaDisordersPropeptideAlphaDermatosparaxisProteolytic processingSepsisN-proteinaseCellsSyndromeCollagen fibrils