Pathogenesis of Port-Wine Stains: Directions for Future Therapies

• Published in: International journal of molecular sciences Vol. 23; no. 20; p. 12139
• Main Authors: Liu, Lian, Li, Xiaoxue, Zhao, Qian, Yang, Lihua, Jiang, Xian
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 12-10-2022; MDPI
• Subjects: 1-Phosphatidylinositol 3-kinase; AKT protein; Angiopoietin; Blood vessels; Coexistence; Collagen; Congenital defects; Dye lasers; Endothelium; Fibroblasts; Imiquimod; Membranes; Mutation; Pathogenesis; Pericytes; Photodynamic therapy; port-wine stain; Rapamycin; Review; Stains & staining; Surface markers; treatment; Vascular endothelial growth factor receptors; Wine
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms232012139

Port-wine stains (PWSs) are congenital vascular malformations that involve the skin and mucosa. To date, the mechanisms underlying the pathogenesis and progression of PWSs are yet to be clearly elucidated. The potential reasons for dilated vessels are as follows: (1) somatic GNAQ (R183Q) mutations that form enlarged capillary malformation-like vessels through angiopoietin-2, (2) decreased perivascular nerve elements, (3) the coexistence of Eph receptor B1 and ephrin B2, and (4) the deficiency of αSMA expression in pericytes. In addition, ERK, c-JNK, P70S6K, AKT, PI3K, and PKC are assumed to be involved in PWS development. Although pulsed-dye laser (PDL) remains the gold standard for treating PWSs, the recurrence rate is high. Topical drugs, including imiquimod, axitinib, and rapamycin, combined with PDL treatments, are expected to alter the recurrence rate and reduce the number of PDL sessions for PWSs. For the deep vascular plexus, photosensitizers or photothermal transduction agents encapsulated by nanocarriers conjugated to surface markers (CD133/CD166/VEGFR-2) possess a promising therapeutic potential in photodynamic therapy or photothermal therapy for PWSs. The pathogenesis, progression, and treatment of PWSs should be extensively investigated.