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Congenital insensitivity to pain with anhidrosis
Other Names for this Disease
- CIPA
- Familial dysautonomia, type 2
- Hereditary sensory and autonomic neuropathy 4
- HSAN 4
- Insensitivity to pain, congenital, with anhidrosis
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Overview
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.[1]
References
- Congenital insensitivity to pain with anhidrosis. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidrosis. Accessed November 9, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Congenital insensitivity to pain with anhidrosis. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital insensitivity to pain with anhidrosis. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Congenital insensitivity to pain with anhidrosis. Click on the link to go to OMIM and review these resources.