J Oral Maxillofac Surg 2018 12 7;76(12):2582.e1-2582.e9. Epub 2018 Jul 7.
Professor, Department Head, and Vice Dean, Department of Oromaxillofacial-Head and Neck Surgery and Department of Oral and Maxillofacial Surgery, School of Stomatology, China Medical University, Shenyang, China. Electronic address:
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is an extremely rare autosomal recessive disorder. This study investigated the oral and craniofacial manifestations of a 7-year-old Chinese boy affected by CIPA and identified 2 novel mutations in the NTRK1 gene, and a new feature of the disorder was identified. The patient had typical features, including insensitivity to pain, anhidrosis, and mental retardation; recurrent fractures and osteoporosis also were noted. Read More