Congenital Loss of Permanent Teeth in a Chinese Patient with Congenital Insensitivity to Pain with Anhidrosis Due to Two Novel Mutations in the NTRK1 Gene

Publication date: Available online 7 July 2018

Source: Journal of Oral and Maxillofacial Surgery

Author(s): Xiao-Meng Xue, Yan-Qing Liu, Pai Pang, Chang-Fu Sun

Abstract

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 seven-year-old Chinese male affected by CIPA identified two novel mutations in the NTRK1 gene, and a new feature of the disorder was revealed. The patient had typical features, including insensitivity to pain, anhidrosis, and mental retardation; recurrent fractures and osteoporosis were also noted. His oral and craniofacial manifestations included congenital blepharoptosis, a large number of missing teeth, serious tooth abrasion, severe soft tissue injuries, and dental caries. Radiographic examination revealed congenital loss of the permanent tooth germs, thin and weak alveolar bone of the mandible, and a fracture of the right mandible. This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with CIPA and is the first study to propose that congenital loss of permanent teeth may occur in CIPA patients. Furthermore, it highlights the importance of including an oral and maxillofacial surgeon and a pediatric dentist on the multidisciplinary team.

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