Clin Case Rep. 2025 Jul 28;13(8):e70697. doi: 10.1002/ccr3.70697. eCollection 2025 Aug.
ABSTRACT
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self-mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource-limited settings. Early diagnosis and a multidisciplinary approach help prevent complications like severe injuries, infections, and hyperpyrexia.
PMID:40735709 | PMC:PMC12303841 | DOI:10.1002/ccr3.70697
