Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese.

BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder with various skeletal complications; thus, a compilation of data on affected patients could provide a valuable resource for the management of this disease. The aim of this study was to ascertain and report the frequency, location, age of onset, cause, and management of skeletal complications in Japanese patients with CIPA.
METHODS: The medical records of 14 CIPA patients in our institute and information on 77 patients reported in Japanese articles were analyzed. Data regarding skeletal-system complications, including location, symptom, major cause and management of fractures, joint dislocations, infections, and Charcot joints, were extracted.
RESULTS: Fractures occurred in 59/91 patients (65%), 91% of them in the lower limbs. Joint dislocations occurred in 27/91 patients (30%), 91% of them in the hip joint. Bone and joint infections occurred in 22 patients (24%) and Charcot joints in 26 patients (29%); 62% of infections and 87% of Charcot joints developed in the lower limbs. Most fractures occurred from 1 to 7 years of age; there was no apparent relationship between age and other complications. The major known causes of bone disorders were minor trauma such as short falls; however, most were of unknown cause. Conservative therapy was used more frequently than surgery to manage fractures, dislocations, and Charcot joints.
CONCLUSIONS: These data show that most CIPA patients have skeletal complications, most of which occur in the lower limbs. Fractures are frequent between 1 and 7 years of age, whereas other bone disorders have no apparent age relationship. The major known causes of bone disorders were minor trauma such as short falls. Conservative therapy was more frequently used to manage fractures, dislocations, and Charcot joints.