Proteus syndrome:a case report

ZHANG Li-ming; ZHU Yan; FAN Gen-tao; ZHOU Guang-xin

doi:10.3969/j.issn.2095-252X.2025.01.013

Abstract：Objective To report the clinical features, imaging features, diagnosis, differential diagnosis and treatment of Proteus syndrome (PS) in a patient with syndactyly deformity. Methods This paper analyzed the clinical data of a patient with PS admitted to the Department of Orthopedics, Jinling Hospital Affiliated to Nanjing University School of Medicine in October 2022, and used "Proteus syndrome" as the search term to search the literature collected in PubMed database and Chinese database up to November 2023, respectively. The clinical characteristics, differential diagnosis and treatment of the disease were summarized. Results The clinical manifestations of the patient included progressive overgrowth of the second and third toes accompanied by gyricular hyperplasia of the skin on the bottom of the foot. Since the patient's symptoms seriously affected the quality of life and the targeted drug treatment course was long, the patient was given tissue volume reduction and multi-toe amputation to ensure the quality of life of the patient. After operation, the patient's limb motor function was significantly improved. Conclusions PS often involves skin, bone, fat and central nervous system. Excessive growth accompanied by abnormal adipose tissue is one of the prominent features of PS, and this disease often needs to be distinguished from hypergrowth diseases. At present, there is no evidence to support the association between toe deformity and PS. The main treatment method is to improve the quality of life of patients by orthopaedic surgery supplemented with targeted drug therapy.