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
2020
Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice
Asch S, Swink SM, Vivar KL, Pickford J, Breuning L, Wassel C, Hand JL, Milstone L, Castelo‐Soccio L. Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice. Pediatric Dermatology 2020, 38: 137-142. PMID: 33230835, DOI: 10.1111/pde.14460.Peer-Reviewed Original ResearchConceptsPatient advocacy groupsRetrospective cohort studyDemographics of patientsPercent of casesUse of telemedicineCohort studyPhysician advicePediatric populationPatient outcomesCurrent healthcare environmentRare diseasePatient's lifePatientsCase reviewPhysician collaborationAdvocacy groupsCharacteristics of responseDecades of experienceDescriptive statisticsTelemedicineIchthyosisHealthcare environmentGroupCasesClinicians