ArticleFrontiers in pediatrics2026
Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder. Its core clinical manifestations include profound pain insensitivity, generalized anhidrosis, and subsequent recurrent hyperthermia. To date, only a few hundred cases have been reported in the literature. An 8-month-old female infant was admitted with a 14-day history of recurrent fever that was unresponsive to systemic antimicrobial therapy. Dynamic clinical monitoring revealed an environment-dependent body temperature. Physical examination showed dry and coarse palms, accompanied by painless oral ulcers and painless distal finger injuries. Retrospective history taking confirmed a lack of sweating during febrile episodes and an absence of pain perception. Whole-exome and Sanger sequencing identified compound heterozygous variants in the
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