Purpose: Congenital insensitivity to Pain (CIP) is a rare peripheral neuropathy which may affect various sensory pathways and often affects the autonomic nervous system. Musculoskeletal manifestations include infections, fractures, growth disturbances, avascular necrosis, Charcot arthropathy, joint dislocations and heterotopic ossification. The purpose of the study was to review the orthopaedic problems in patients with Congenital Insensitivity to Pain and make treatment recommendations.

Methods: Thirteen patients from eight families were examined and all charts and radiographs were reviewed. A quantitative sweat test was performed in five patients and an intradermal histamine test in ten.

DNA was prepared in all patients and examined for specific mutations.

Results: Three clinical presentations were found:

Type A – Five patients presented with multiple infections requiring many surgical procedures ranging from local debridement to below knee amputation.

Type B – Three patients presented with fractures and growth disturbances of the lower limbs as well as avascular necrosis of the talus or femoral condyle. Two patients underwent corrective osteotomies due to deformities. Type C – Five patients presented with Charcot arthropathies, joint dislocations, fractures and infections. Four of them were mentally retarded.

Patients underwent multiple surgical procedure to control infections.

Attempts surgical stabilization of joints were unsuccessful.

Mutations were found in four patients.

Conclusions

Patient education, shoe ware and periods of non weight bearing are important in prevention and early treatment of decubitus ulcers.

We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations in four patients. There were three clinical presentations: type A, in which multiple infections occurred (five patients); type B, with fractures, growth disturbances and avascular necrosis (three patients); and type C, with Charcot arthropathies and joint dislocations, as well as fractures and infections (five patients, four with mental retardation).

Patient education, shoeware and periods of non-weight-bearing are important in the prevention and early treatment of decubitus ulcers. The differentiation between fractures and infections should be based on aspiration and cultures to prevent unnecessary surgery. Established infections should be treated by wide surgical debridement. Deformities can be managed by corrective osteotomies, and shortening by shoe raises or epiphysiodesis. Joint dislocations are best treated conservatively.