Xingyuan Jiang, MD, MBBS
she/her/hers
Postdoctoral AssociateAbout
Research
Publications
2026
Granular Cell Dermatofibroma Demonstrates Loss‐of‐Function Mutations in V‐ATPase Component Genes
Jiang X, Hu R, Choate K, Panse G. Granular Cell Dermatofibroma Demonstrates Loss‐of‐Function Mutations in V‐ATPase Component Genes. Journal Of Cutaneous Pathology 2026 PMID: 42108978, DOI: 10.1111/cup.70134.Peer-Reviewed Original ResearchGranular cell tumorComponent genesV-ATPaseHistopathological variantsCell dermatofibromaMalignant granular cell tumorAggressive surgical managementLoss-of-function mutationsVariant of dermatofibromaAbundant granular cytoplasmLoss-of-functionAssociated with mutationsPaired control tissuesV-ATPase mutationsCell tumorsSurgical managementExome sequencingMolecular alterationsGranular cytoplasmMolecular findingsGenetic mutationsControl tissuesMutationsGenesDermatofibromaBlaschko‐Linear TGM1‐nEDD Associated With Mosaic Genome‐Wide Uniparental Isodisomy
Luo A, Jiang X, Liu W, Siegel L, Choate K. Blaschko‐Linear TGM1‐nEDD Associated With Mosaic Genome‐Wide Uniparental Isodisomy. American Journal Of Medical Genetics Part A 2026 PMID: 42037193, DOI: 10.1002/ajmg.a.70181.Peer-Reviewed Original ResearchValidation 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 ResearchThis study investigates giant porokeratosis, showing it is linked to mevalonate pathway mutations and improves with topical cholesterol/lovastatin treatment targeting lipid metabolism defects.Progressive 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, 65: 1303-1305. PMID: 41366560, DOI: 10.1111/ijd.70200.Commentaries, Editorials and LettersEfficacy 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 22KinaseLinear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant
Jiang X, Chen T, Hu R, Mortlock R, Ko C, Choate K. Linear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant. British Journal Of Dermatology 2025, 193: 568-570. PMID: 40442926, PMCID: PMC12360036, DOI: 10.1093/bjd/ljaf210.Peer-Reviewed Original Research
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