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

This case report detailed a 7-year follow-up of a boy with congenital insensitivity to pain with anhidrosis (CIPA) and progressing acro-osteolysis, a rare hereditary sensory autonomic neuropathy. The boy, diagnosed at age 12, exhibited typical CIPA symptoms such as absence of pain, self-mutilation, and lack of sweating, alongside mental retardation and recurrent fevers. Over the years, he experienced significant orthopedic issues, including hip dislocations and femur fractures, due to the absence of pain as a protective mechanism. Radiographic examinations revealed progressing osteolysis in his extremities. The report highlighted the challenges in managing CIPA, emphasizing the need for early intervention and protective measures to prevent injury, as no standard treatment existed for this condition. The underlying cause was linked to a mutation in the TrkA gene, affecting nerve growth factor receptors essential for sensory and autonomic neuron survival.