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<p>Port-wine stains (PWS), also termed capillary malformations, are congenital, progressive microvascular anomalies that can cause lifelong cosmetic and psychosocial burden and may signal syndromic involvement such as Sturge–Weber syndrome (SWS). We performed a focused evidence synthesis integrating mechanistic literature on somatic mosaicism and vascular remodeling with clinical evidence from randomized trials, observational cohorts, and quantitative-imaging studies. Key endpoints and theragnostic concepts were summarized to inform trial design and individualized treatment strategies.&#xa0;Somatic activating variants in GNAQ and related signaling networks drive endothelial dysfunction, aberrant vessel maturation, and lesion progression. Pulsed-dye laser(PDL) remains the global first-line modality, but response is heterogeneous and often incomplete, particularly in thick or nodular lesions. Hematoporphyrin monomethyl ether (hemoporfin)-mediated photodynamic therapy(PDT) shows high efficacy for selected phenotypes but carries distinct adverse-event profiles. Emerging theragnostics—including dynamic optical coherence tomography(D-OCT) and computational reconstruction—enable noninvasive quantification of vessel depth and caliber, supporting phenotype-guided parameter selection and objective response assessment.&#xa0;A mechanistically anchored, phenotype-informed framework that integrates molecular drivers with quantitative vascular imaging can accelerate precision strategies for PWS, improve endpoint rigor, and guide next-generation combination and targeted therapies.</p>

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Port-wine stains: molecular drivers, translational models, and emerging theragnostic directions

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月22日

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  • Jing Zhou,
  • Lu Hua,
  • Liqiang Gan,
  • Yan wang

摘要

Port-wine stains (PWS), also termed capillary malformations, are congenital, progressive microvascular anomalies that can cause lifelong cosmetic and psychosocial burden and may signal syndromic involvement such as Sturge–Weber syndrome (SWS). We performed a focused evidence synthesis integrating mechanistic literature on somatic mosaicism and vascular remodeling with clinical evidence from randomized trials, observational cohorts, and quantitative-imaging studies. Key endpoints and theragnostic concepts were summarized to inform trial design and individualized treatment strategies. Somatic activating variants in GNAQ and related signaling networks drive endothelial dysfunction, aberrant vessel maturation, and lesion progression. Pulsed-dye laser(PDL) remains the global first-line modality, but response is heterogeneous and often incomplete, particularly in thick or nodular lesions. Hematoporphyrin monomethyl ether (hemoporfin)-mediated photodynamic therapy(PDT) shows high efficacy for selected phenotypes but carries distinct adverse-event profiles. Emerging theragnostics—including dynamic optical coherence tomography(D-OCT) and computational reconstruction—enable noninvasive quantification of vessel depth and caliber, supporting phenotype-guided parameter selection and objective response assessment. A mechanistically anchored, phenotype-informed framework that integrates molecular drivers with quantitative vascular imaging can accelerate precision strategies for PWS, improve endpoint rigor, and guide next-generation combination and targeted therapies.