Retrospective study of hemoporfin photodynamic therapy for the GNA-Related Capillary Malformation spectrum

Vascular malformations caused by GNAQ/GNA11 somatic mutations include port-wine stains (PWS), Sturge-Weber syndrome (SWS), capillary malformation with overgrowth (CMO), diffuse capillary malformation with overgrowth (DCMO), and phakomatosis pigmentovascularis (PPV). These disorders are known as the GNA-Related Capillary Malformation spectrum (GNARCMs). To evaluate the efficacy and safety of hemoporfin photodynamic therapy (HMME-PDT) for treating the GNARCMs. The clinical manifestations, treatment data, photographs and adverse events of the GNARCMs patients were retrospectively analyzed. We identified 25 patients of the GNARCMs. After an average of 1.52 sessions of HMME-PDT, 48% patients showed excellent or good levels of improvement (>50% color blanching). Most adverse events were transient and self-limiting, except one patient of SWS, visual acuity of the non-treated side suddenly decreased, and diagnosed retinal detachment, which was considered to be related to primary glaucoma. Focusing on the various clinical manifestations of the GNARCMs, after except contraindications, HMME-PDT can be selected for treatment.