反复骨折-满月脸-口周斑点样色素沉着

Repeated fracture-full moon face-perioral spotted pigmentation

Carney复合症是内分泌科罕见病,伴有骨软骨黏液瘤仅占其中的1%。本文报道1例反复骨折、满月脸、口周斑点样色素沉着的青年女性患者的诊治经过,结合临床表现、辅助检查和病理确诊为伴有骨软骨黏液瘤的Carney复合症。该病例骨骼多发畸形需与McCune-Albright综合征和异位ACTH分泌瘤及伴多发骨转移进行详细鉴别。该病例的报道有益于增进内分泌科、放射科、骨科等多学科对骨软骨黏液瘤的认识,以避免漏诊、误诊。

Carney complex(CNC)is a rare disease in endocrinology,with osteochondromyxoma accounting for only 1%of it.This article details the diagnosis and treatment of a young female patient with recurrent fracture,full moon face and perioral spotted pigmentation.Combined with clinical manifestations,auxiliary examination and pathology,Carney complex with osteochondromyxoma was diagnosed.Multiple bone deformities in this case should be differentiated from McCune-Albright syndrome and ectopic ACTH secreting tumor with multiple bone metastases.The report of this case is helpful to improve the understanding of osteochondromyxoma in endocrinology,radiology,orthopedics and other disciplines,so as to avoid missed diagnosis and misdiagnosis.