Xingyuan Jiang, MD, MBBS

2026

• Recurrent and novel GLTP variants in five patients with nonsyndromic epidermal differentiation disorder: phenotypic and genotypic expansion

  Zhang Z, Yang C, Jiang X, Luo A, Mathes E, Chen Y, Choate K, Lin Z, Wang H. Recurrent and novel GLTP variants in five patients with nonsyndromic epidermal differentiation disorder: phenotypic and genotypic expansion. British Journal Of Dermatology 2026, 195: 680-682. PMID: 42385053, PMCID: PMC13585441, DOI: 10.1093/bjd/ljag268.

  Peer-Reviewed Original Research

• Cutaneous features of SDR9C7 variants in eight individuals with autosomal recessive nonsyndromic epidermal differentiation disorders

  Echeandia-Francis C, Luo A, Jiang X, Soltani H, Siegel D, Siegfried E, Robinson S, Paller A, Choate K. Cutaneous features of SDR9C7 variants in eight individuals with autosomal recessive nonsyndromic epidermal differentiation disorders. Clinical And Experimental Dermatology 2026, llag270. PMID: 42339913, DOI: 10.1093/ced/llag270.

  Peer-Reviewed Original Research

• A 73‐Year‐Old Man With Eruptive Pruritic Brown Papules

  Jiang X, Luo A, Preda‐Namescu A, Lefebvre M, Choate K, Leventhal J. A 73‐Year‐Old Man With Eruptive Pruritic Brown Papules. International Journal Of Dermatology 2026 PMID: 42277910, DOI: 10.1111/ijd.70525.

  Peer-Reviewed Original Research

• 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, 53: 844-850. PMID: 42108978, PMCID: PMC13432719, DOI: 10.1111/cup.70134.

  Peer-Reviewed Original Research

• Blaschko‐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, 200: 2157-2161. PMID: 42037193, PMCID: PMC13390755, DOI: 10.1002/ajmg.a.70181.

  Peer-Reviewed Original Research

• Mosaic STIM1 variant associated with epidermal naevus

  Luo A, Jiang X, Ellis K, Liu W, Hu R, Atzmony L, Choate K. Mosaic STIM1 variant associated with epidermal naevus. British Journal Of Dermatology 2026, 195: 347-349. PMID: 42028865, PMCID: PMC13390754, DOI: 10.1093/bjd/ljag148.

  Peer-Reviewed Original Research

• 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: 535-537. PMID: 41779411, PMCID: PMC12961595, DOI: 10.1001/jamadermatol.2025.6166.

  Peer-Reviewed Original Research

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• De 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 Research

  Citations

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  MeSH Keywords

• A 12-year expanding pink plaque on the chest

  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 Research

  This study investigates giant porokeratosis, showing it is linked to mevalonate pathway mutations and improves with topical cholesterol/lovastatin treatment targeting lipid metabolism defects.

  Full Summary

• 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

  Citations