Congenital Insensitivity to Pain with Anhidrosis and Progressing Acro-Osteolysis: A Case Report with 7-Year Follow-Up

This case report followed a boy with congenital insensitivity to pain with anhidrosis (CIPA) and progressing acro-osteolysis over 7 years, starting from age 12. He exhibited typical CIPA symptoms, including absence of pain, self-mutilation, and lack of sweating, and suffered multiple injuries like hip dislocations and fractures without feeling pain. The condition was associated with a mutation in the TrkA gene, affecting nerve growth factor receptors, and despite normal nerve conduction, he experienced significant osteolysis and mental retardation. The report underscored the difficulties in managing CIPA due to the lack of pain as a protective mechanism and stressed the importance of protective measures to prevent injuries, noting the absence of a standard treatment and the necessity for ongoing follow-up.