Somatic GNAQ mutation in different structures of port-wine macrocheilia.

In patients with PWM, GNAQ was mutated in all tissues except for glands. PWM is congenital, and all tissue layers exhibit primary hypertrophy rather than acquired or partially related hypertrophy. Given the advantages of mucosal biopsy, including practicality, lack of scarring and rapid healing, GNAQ mutation in the lip mucosa may be a useful predictor for early-stage PWM in patients with port-wine stains affecting the lips.