Abstract: Proteus syndrome is a localized proliferative disorder caused by a somatic activating mutation in AKT1（ c.49G →A， p.Glu17Lys）. The most common manifestations include cerebriform connective tissue nevi， exostoses， and pulmonary cystic changes， often resulting in a shortened lifespan for affected individuals. The clinical presentation is highly heterogeneous， involving multiple tissues， which complicates diagnosis and treatment. This paper systematically reviewed the etiology， animal models， clinical manifestations， diagnosis， and treatment of Proteus syndrome， aiming to support precise medical interventions for this rare disease.

Key words: Proteus syndrome, &emsp, Activating mutation, &emsp, Precision medicine