Congenital insensitivity to pain with anhidrosis complicated with joint injury: a case report
10.3760/cma.j.cn121113-20250116-00049
- VernacularTitle:先天性无痛无汗症合并骨关节损伤一例报告
- Author:
Baoxiang ZHAO
1
;
Hongxun ZHU
1
Author Information
1. 山东省临沂市人民医院骨科，临沂 276000
- Publication Type:Journal Article
- Keywords:
Pain insensitivity, congenital;
Ectodermal dysplasia, hypohidrotic, autosomal recessive;
Joints;
Wounds and injuries
- From:
Chinese Journal of Orthopaedics
2025;45(6):376-379
- CountryChina
- Language:Chinese
-
Abstract:
This article reports a rare case of a 24-year-old male with congenital insensitivity to pain with anhidrosis (CIPA) complicated by joint injuries. The patient has presented with an absence of pain sensation, anhidrosis, and recurrent lower extremity fractures since childhood, and has gradually developed severe bone and joint injuries in the lower extremities in adulthood. Combined with the medical history, physical examination, and imaging features, whole exome sequencing identified compound heterozygous pathogenic mutations in the NTRK1 gene: c.851-33T>A (maternal) and c.963del (paternal), consistent with an autosomal recessive inheritance pattern. Literature analysis indicates that NTRK1 mutations lead to abnormal nerve growth factor signaling, causing loss of pain sensation, autonomic nerve dysfunction, and recurrent self-harm behaviors, which in turn induce skeletal system complications such as fractures, hip dislocation, osteomyelitis, and infections. The imaging features are mainly characterized by bone resorption, joint deformities, and Charcot joints. The patient's synovial chondroma of the right knee joint is a rare CIPA. Currently, there is no cure for CIPA, and treatment focuses on injury prevention, anti-infection, and supportive care. Stem cell therapy and gene editing technology may be potential directions. Due to the lack of a pain protection mechanism, CIPA patients are prone to psychological problems and require multidisciplinary collaborative intervention.
