An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis
Patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in
the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack
of simple diagnostic tests, and the paucity of cases reported in North America. We describe a
1-year-old infant who had tooth loss and palmar hyperkeratosis as the primary
manifestations of CIPA. He was initially evaluated by a pediatric dentist and epidermal
dysplasia syndromes were considered, but insensitivity to pain was suspected after a …
the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack
of simple diagnostic tests, and the paucity of cases reported in North America. We describe a
1-year-old infant who had tooth loss and palmar hyperkeratosis as the primary
manifestations of CIPA. He was initially evaluated by a pediatric dentist and epidermal
dysplasia syndromes were considered, but insensitivity to pain was suspected after a …