Insensitivity to pain, congenital, with anhidrosis

Hereditary insensitivity to pain with anhidrosis


Type of disease: Rare conditions

Congenital insensitivity to pain with anhidrosis (CIPA) is an inherited condition characterized by the inability to feel pain and temperature and decreased or absent sweating (anhidrosis). The signs and symptoms of CIPA usually appear at birth or during infancy. People with CIPA may also heal slowly from skin and bone injuries, which can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, where the bones and tissue surrounding joints are destroyed. Absent sweating can cause recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). CIPA is caused by mutations in the NTRK1 gene and is inherited in an autosomal recessive pattern. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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