2018
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM. More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. Journal Of The American Academy Of Dermatology 2018, 80: 617-625. PMID: 30287322, PMCID: PMC6372339, DOI: 10.1016/j.jaad.2018.09.042.Peer-Reviewed Original ResearchCARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. Journal Of The American Academy Of Dermatology 2018, 79: 487-494. PMID: 29477734, PMCID: PMC6098739, DOI: 10.1016/j.jaad.2018.02.034.Peer-Reviewed Original ResearchConceptsPityriasis rubra pilarisPapulosquamous eruptionPsoriasis therapyFamily historyCARD14 mutationsRegistry of subjectsFeatures of psoriasisSystemic psoriasis therapiesSpectrum of diseaseDisorders of keratinizationWhole-exome sequencingOral retinoidsClinical characteristicsClinical featuresClinical historyTumor necrosisDiagnostic uncertaintyFamilial pityriasis rubra pilarisProminent involvementPsoriasisGenetic testingHeterozygous mutationsExome sequencingMinimal responseSmall sample size
2017
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez‐Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. British Journal Of Dermatology 2017, 177: 319-322. PMID: 28403545, PMCID: PMC5522355, DOI: 10.1111/bjd.15570.Peer-Reviewed Original ResearchExpanding the Genotypic Spectrum of Bathing Suit Ichthyosis
Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. JAMA Dermatology 2017, 153: 537-543. PMID: 28403434, PMCID: PMC5817618, DOI: 10.1001/jamadermatol.2017.0202.Peer-Reviewed Original Research
2013
Systemic retinoids in the management of ichthyoses and related skin types
DiGiovanna JJ, Mauro T, Milstone LM, Schmuth M, Toro JR. Systemic retinoids in the management of ichthyoses and related skin types. Dermatologic Therapy 2013, 26: 26-38. PMID: 23384018, PMCID: PMC3884695, DOI: 10.1111/j.1529-8019.2012.01527.x.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSkin typeHigh-dose vitaminMainstay of therapyTeratogenic side effectsSystemic retinoidsTerm retinoidsCareful surveillanceLimit toxicityEffective therapyDemonstrated efficacySide effectsMucous membranesVitamin ASevere ichthyosisSynthetic retinoidsEarly useRetinoidsTherapyVariety of agesSynthetic derivativesEfficacyTreatmentLimited usefulnessAcetretinEtretinate
2010
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009
Oji V, Tadini G, Akiyama M, Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009. Journal Of The American Academy Of Dermatology 2010, 63: 607-641. PMID: 20643494, DOI: 10.1016/j.jaad.2009.11.020.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildCongresses as TopicDermatologic AgentsFemaleFranceGene Expression RegulationGenetic Predisposition to DiseaseHumansIchthyosiform Erythroderma, CongenitalIchthyosisInfantInfant, NewbornMalePractice Guidelines as TopicPrognosisSeverity of Illness IndexTerminology as TopicYoung AdultConceptsConsensus conference
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 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