Congenital Insensitivity to Pain Syndrome with Anhidrosis. Review of Literature

Abstract

The congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence and the few reported cases, it is important to know its main features to be considered in the differential diagnosis in pediatric practice. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. Early surgical treatment for long bone fractures to prevent pseudo arthrosis and to allow early weightbearing decreasing the risk of further osteopenia. The choice of appropriate antibiotics and surgical debridement in cases of infection might prevent further destruction of joints.