Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1), which encodes the high-affinity nerve growth factor receptor TRKA. Here, we investigated the oral and craniofacial manifestations of a Chinese patient affected by autosomal-recessive CIPA and identified compound heterozygosity in the NTRK1 gene. The affected boy has multisystemic disorder with lack of reaction to pain stimuli accompanied by self-mutilation behavior, the inability to sweat leading to defective thermoregulation, and mental retardation. Oral and craniofacial manifestations included a large number of missing teeth, nasal malformation, submucous cleft palate, severe soft tissue injuries, dental caries and malocclusion. Histopathological evaluation of the skin sample revealed severe peripheral nerve fiber loss as well as mild loss and absent innervation of sweat glands. Ultrastructural and morphometric studies of a shed tooth revealed dental abnormalities, including hypomineralization, dentin hypoplasia, cementogenesis defects and a dysplastic periodontal ligament. Genetic analysis revealed a compound heterozygosity- c.1561T>C and c.2057G>A in the NTRK1 gene. This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with CIPA and provides additional insight for clinical and molecular diagnosis.

Aim To describe a novel surgical method (crown rotation surgery) to manage inversely impacted central incisors with immature roots. Methodology Two young patients each presented with an inversely impacted maxillary central incisor. To protect the apical tissues, the two impacted incisors were rotated downwards to a relatively normal position without extraction from their bony sockets. Results After crown rotation surgery, spontaneous eruption, continuous root development, and periodontal healing of the rotated incisors were observed. The pulp retained vitality and blood flow was normal. Moreover, there were no obvious signs of pulp canal obliteration (PCO), as indicated by Cone Beam Computed Tomography (CBCT) imaging. Conclusions By optimising protection of the vital pulp and apical tissues, crown rotation surgery represents a minimally invasive, conservative, and practical surgical technique for treating inversely impacted incisors with developing roots. In contrast to existing surgical methods, crown rotation surgery may avoid certain complications, including PCO and abnormal or arrested root development. Key learning points By optimizing protection of the vital pulp and apical tissues, crown rotation surgery represents a minimally invasive, conservative and practical surgical technique for treating inversely impacted incisors with developing roots. In contrast to existing surgical methods, crown rotation surgery may avoid certain complications, including PCO and abnormal or arrested root development.