Xingyuan Jiang, MD, MBBS
she/her/hers
Postdoctoral AssociateAbout
Research
Publications
2026
Validation of the Ectropion Severity Score in Epidermal Differentiation Disorders
Echeandia-Francis C, Luo A, Jiang X, Ellis K, Mani M, Chen T, Gan G, Deng Y, Choate K. Validation of the Ectropion Severity Score in Epidermal Differentiation Disorders. JAMA Dermatology 2026, 162 PMID: 41779411, PMCID: PMC12961595, DOI: 10.1001/jamadermatol.2025.6166.Peer-Reviewed Original ResearchDe Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans
Jiang X, Jeng M, Yang Z, Ugwu N, Cheng Y, Echeandia-Francis C, Mortlock R, Mani M, Rekhtman N, Podolanczuk A, Fiorino E, Plodkowski A, Lekwuttikarn R, Teng J, Walsh M, Yu H, Lin Z, Choate K. De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans. JAMA Dermatology 2026, 162: 236-244. PMID: 41533385, PMCID: PMC12805494, DOI: 10.1001/jamadermatol.2025.5414.Peer-Reviewed Original ResearchConceptsEpidermal growth factor receptorEpidermal growth factor receptor variantAcanthosis nigricansPulmonary diseasePulmonary nodulesLesional skinSystemic diseaseEarly recognitionEpidermal growth factor receptor pathway activationResponse to EGFR inhibitionOriginal diagnosisEpidermal growth factor receptor inhibitionEpidermal growth factor receptor inhibitorsAssociated with impaired glucose tolerancePharmacological inhibition in vitroResolution of skinLung nodulesEGFR-targeted therapyFunctional epidermal growth factor receptorPathway activationCase series studyPulmonary function testsImpaired glucose toleranceGrowth factor receptorWhole-exome sequencingA 12-year expanding pink plaque on the chest
Etaee F, Castiglione F, Jiang X, Hu R, Galan A, Choate K, Vesely M. A 12-year expanding pink plaque on the chest. JAAD Case Reports 2026, 70: 86-89. PMID: 41798138, PMCID: PMC12966874, DOI: 10.1016/j.jdcr.2025.11.058.Peer-Reviewed Original ResearchProgressive symmetrical erythrokeratoderma associated with biallelic PNPLA1 variants
Jiang X, Echeandia-Francis C, Mani M, Hyden M, Lange-Asschenfeldt B, Hügel R, Hausser I, Süßmuth K, Oji V, Kopp J, Liu W, Fischer J, Choate K. Progressive symmetrical erythrokeratoderma associated with biallelic PNPLA1 variants. British Journal Of Dermatology 2026, 194: 806-808. PMID: 41530952, PMCID: PMC13017155, DOI: 10.1093/bjd/ljag006.Peer-Reviewed Original Research
2025
Progressive Symmetric Erythrokeratoderma in an Adolescent With a Novel GJB3 Variant
Ramírez‐Posada M, Arroyave C, Jiang X, Giraldo J, Chen T, Choate K, Rodríguez L. Progressive Symmetric Erythrokeratoderma in an Adolescent With a Novel GJB3 Variant. International Journal Of Dermatology 2025 PMID: 41366560, DOI: 10.1111/ijd.70200.Peer-Reviewed Original Research156 Prevalence and Severity of Ectropion Among Epidermal Differentiation Disorders
Luo A, Echeandia-Francis C, Jiang X, Ellis K, Mani M, Chen T, Gan G, Deng Y, Choate K. 156 Prevalence and Severity of Ectropion Among Epidermal Differentiation Disorders. Journal Of Investigative Dermatology 2025, 145: e56. DOI: 10.1016/j.jid.2025.09.171.Peer-Reviewed Original Research316 Cytokine Profiling of Monogenic Epidermal Differentiation Disorders
Mortlock R, Zhao M, Luo A, Echeandia-Francis C, Rabbaa L, Sun D, Chen T, Jiang X, Liu W, Junejo M, Cohen J, Damsky W, Paller A, Choate K. 316 Cytokine Profiling of Monogenic Epidermal Differentiation Disorders. Journal Of Investigative Dermatology 2025, 145: e81. DOI: 10.1016/j.jid.2025.09.318.Peer-Reviewed Original ResearchEfficacy of interleukin-12/23 and interleukin-23 inhibitors in Hailey-Hailey disease
Echeandia-Francis C, Jiang X, Mortlock R, Goldust M, Milstone L, Choate K. Efficacy of interleukin-12/23 and interleukin-23 inhibitors in Hailey-Hailey disease. JAAD Case Reports 2025, 66: 115-118. PMID: 41550311, PMCID: PMC12805248, DOI: 10.1016/j.jdcr.2025.09.027.Peer-Reviewed Original ResearchA recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma
Jiang X, Mortlock R, Pironon N, Zhou J, Hu R, Liu W, Acosta A, Shwayder T, Hovnanian A, Lifton R, Choate K. A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2509896122. PMID: 40758889, PMCID: PMC12358830, DOI: 10.1073/pnas.2509896122.Peer-Reviewed Original ResearchConceptsAssociated with focal adhesion kinaseEpidermal growth factor receptorRecurrent de novo missense variantFocal adhesion kinaseGain-of-function mechanismActivation of signaling pathwaysSingle-cell spatial transcriptomicsReceptor tyrosine kinasesMissense variantsMyelin protein 22Sites of wound healingTetraspan proteinProgressive symmetric erythrokeratodermaGenetic investigationsSignaling pathwayEpidermal integrityTyrosine kinaseSpatial transcriptomicsEpidermal differentiationEpidermal growth factor receptor inhibitorsGrowth factor receptorSkin disordersMyelin proteinsProtein 22Kinase0571 Linear epidermal nevus caused by a novel mosaic heterozygous PTPN11 variant
Jiang X, Chen T, Hu R, Mortlock R, Ko C, Choate K. 0571 Linear epidermal nevus caused by a novel mosaic heterozygous PTPN11 variant. Journal Of Investigative Dermatology 2025, 145: s99. DOI: 10.1016/j.jid.2025.06.578.Peer-Reviewed Original Research
Clinical Trials
Current Trials
Efficacy of Guselkumab in the treatment of Hailey Hailey disease: An open-label, proof of concept study
IRB ID2000038224RoleSub InvestigatorPrimary Completion Date12/31/2025Recruiting Participants
Academic Achievements & Community Involvement
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15 York Street
New Haven, CT 06510