Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder that affects the nervous system. It is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy. Key features of CIPA include:
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Inability to feel pain or temperature: People with CIPA cannot feel pain or temperature due to a genetic mutation that prevents the formation of nerve cells responsible for transmitting signals of pain, heat, and cold to the brain.
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Inability to sweat: People with CIPA cannot sweat due to a lack of sweat glands.
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Recurrent infections and fevers: People with CIPA often have recurrent episodes of infections and unexplained fever.
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Delayed developmental milestones: Delayed developmental milestones in early years may be observed.
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Joint and bone problems: Joint and bone problems are common due to repeated injuries, and wounds heal poorly.
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Cognitive disorders: Cognitive disorders are commonly coincident, and patients often have severe learning difficulties, irritability, hyperactivity, and cognitive impairment.
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Thick, leathery skin: Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails.
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Behavioral or emotional problems: People with CIPA may also have behavioral or emotional problems.
There is no cure for CIPA, and treatment focuses on managing symptoms and preventing complications. Attention to injuries to prevent infection and worsening is necessary. People with CIPA may require frequent medical attention and monitoring throughout their lives.
