2022
The Genomic and Phenotypic Landscape of Ichthyosis
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA. The Genomic and Phenotypic Landscape of Ichthyosis. JAMA Dermatology 2022, 158: 16-25. PMID: 34851365, PMCID: PMC8637393, DOI: 10.1001/jamadermatol.2021.4242.Peer-Reviewed Original ResearchConceptsClinical manifestationsPathogenic variantsCohort studySkin painEye problemsPhenotypic spectrumGenotype-phenotype associationsSkin odorClear genotype-phenotype associationsFisher's exact testGenetic diagnosisPatient advocacy groupsNovel disease-associated variantsReferral centerDisease-associated variantsClinical assessmentSkin infectionsClinical photographsMAIN OUTCOMEExact testHearing problemsHeterogeneous disorderScaly skinBlood DNACommon genotype
2017
Establishing and Validating an Ichthyosis Severity Index
Marukian NV, Deng Y, Gan G, Ren I, Thermidor W, Craiglow BG, Milstone LM, Choate KA. Establishing and Validating an Ichthyosis Severity Index. Journal Of Investigative Dermatology 2017, 137: 1834-1841. PMID: 28596001, DOI: 10.1016/j.jid.2017.04.037.Peer-Reviewed Original ResearchConceptsIchthyosis severityDisorders of keratinizationIntrarater intraclass correlation coefficientsIntraclass correlation coefficientTherapeutic responseClinical trialsClinical phenotypingLevels of severityBody sitesErythemaSeverity IndexSeverityInterrater reliabilityPerson evaluationDermatologistsVisual indexSubjectsIndexVisual standardsSettingKeratinizationTrialsDifferent settings