Case report: Proteus syndrome
10.3760/cma.j.cn114453-20200430-00257
- VernacularTitle:Proteus综合征一例
- Author:
Jingnan HE
1
;
Tao CHEN
Author Information
1. 北京积水潭医院超声科 100035
- Keywords:
Proteus syndrome;
Clinical manifestation;
Diagnosis and treatment
- From:
Chinese Journal of Plastic Surgery
2021;37(9):1003-1006
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of a rare disease patient with Proteus syndrome. The 10-year-old male who presented with a 5-year history of mass on left heel and a 3-year history of mass on the toes of left foot, presented to Beijing Jishuitan Hospital in July 2018. Multiple lipomas on the heel of the left foot, the end of the foot was enlarged like a hammer. The skin at the bottom of the foot showed linear verrucous epidermal nevi. Superficial vein malformations of both feet and calves. He underwent left toe mass resection in Beijing Jishuitan Hospital. Pathological results: synovial tissue hyperplasia and cartilage metaplasia. Collagen fibers show tumor-like hyperplasia. The patient had a mutation (c.49G>A, p. Glu17Lys) in the oncogene AKT1. Pathological and genetic test results support the diagnosis of Proteus syndrome. Followed up was performed after operation for 24 months, the condition was well controlled.
