2024
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
Ho M, Nguyen H, Van Hoang M, Bui T, Vu B, Dinh T, Vo H, Blaydon D, Eldirany S, Bunick C, Bui C. Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients. Human Genomics 2024, 18: 38. PMID: 38627868, PMCID: PMC11022333, DOI: 10.1186/s40246-024-00603-x.Peer-Reviewed Original ResearchConceptsSkin microbiomeCI patientsJAK/STAT-signaling pathwayRecurrent pathogenic variantsMeta-genomeCommensal microbiotaHereditary skin disordersJAK/STAT signalingIncreased production of inflammatory cytokinesIncreased susceptibility to infectionJAK/STAT-signalingPeripheral blood mononuclear cellsPathogenic variantsAge- and gender-matched controlsSkin barrier defectsHigher colonizationResultsThis case-control studyProduction of inflammatory cytokinesMicrobial populationsBlood mononuclear cellsImproving therapeutic managementEpidermal scalesCase-control studyMicrobiomeGender-matched controls
2023
Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis
Murrell D, Teng J, Guenthner S, Marathe K, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn A, Raiz J, Bunick C. Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis. Clinical And Experimental Dermatology 2023, 48: 623-630. PMID: 36794376, DOI: 10.1093/ced/llad033.Peer-Reviewed Original ResearchConceptsAdverse eventsVehicle groupControl studyGlobal assessmentInvestigator's Global AssessmentMost adverse eventsApplication site reactionsTopical treatment optionsProportion of participantsIGA scoreCutaneous manifestationsMean agePhase IIbTreatment optionsCongenital ichthyosisSubtypesAutosomal recessive lamellar ichthyosisOintment formulationLamellar ichthyosisRecessive ichthyosisIchthyosisScoresBaselineGreater proportionParticipants
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 Research