Congenital analgesia with anhidrosis

Autosomal recessive hereditary ectodermal dysplasia (mutation of the neurotrophic tyrosine kinase receptor type 1 (NTRK1; gene defect on 1q21-22; Li M et al. 2012) with recurrent fever attacks, focal hypotrichosis of the scalp hair, enamel defects and hypohidrosis associated with congenital analgesia and mental defects (Indo Y et al. 1996). Consequences are injuries with poor healing especially in the distal extremities, partly due to automutilation and pressure points of the body (e.g. buttocks).

1. Indo Y et al (1996) Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 13:485-488. https://www.ncbi.nlm.nih.gov/pubmed/8696348
2. Li M et al (2012) Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. Genet Mol Res 11:2156-2162.