Introduction:
Congenital insensitivity to pain and anhidrosis is a dangerous and complicated health condition. In this condition, the patient does not feel pain and is also unable to sweat. It can prove to be fatal in most cases. Many patients die before their mid-twenties. In this syndrome, the nerves sensing pain do not have a proper connection with the parts of the brain, thus making it unable to send the pain message to the body. It is a very rare disorder. Two features characterize this syndrome: loss of pain sensation and decreased or no sweating. Congenital insensitivity to pain and anhidrosis syndrome is also known as hereditary sensory and autonomic neuropathy type IV (intravenous). The patient shows signs and symptoms at an early stage of life, at birth, or during infancy. This syndrome has to be handled with utmost care.
What Is Congenital Insensitivity to Pain and Anhidrosis?
When the patient, at birth or in early infancy, cannot sense pain impulses or is unable to sweat, this condition is known as congenital insensitivity to pain and anhidrosis (CIPA). This syndrome is very serious and can be fatal as the patient ages. A proper diagnosis is needed to detect this syndrome as it shows signs and symptoms right after birth or until the patient becomes a toddler. If prompt medical attention is given to the patient, he can live up to the end of adulthood. The absence of a feeling of pain can lead to repeated unintentional injury to self or self-mutilation. Patients suffering from this syndrome can injure themselves by biting their lips and tongue without feeling any pain. They may also bite their finger, which can lead to serious damage and amputation eventually. When trauma is repeated, it may lead to osteomyelitis, which is a chronic bone infection. The healing process in people suffering from congenital insensitivity to pain and anhidrosis (CIPA) is irregular and delayed, especially in the skin and bones. It is stated that it is an autosomal recessive syndrome. It is caused by a mutation in the NTRK1 (neurotrophic tyrosine kinase receptor) gene.
What Is Pain?
An unpleasant or uncomfortable sensation is known as pain. Pain can be a sensation caused by trauma, injury, or medical condition. The pain is felt when, after tissue damage or trauma, the specific nerves like nociceptors send stimuli toward the brain, and in return, the brain sends a response. The pain sensation can sometimes protect us from self-injury; for example, when a person pricks his finger with a sharp pointed needle, there occurs a reflex through this mechanism, and the person pulls his hand away from the needle, preventing it from further damage. In such cases, pain helps the person identify danger. Pain tolerance varies from person to person; some have high tolerance power, and some have low tolerance power. Pain can be of various types; it also can be limited to a specific area or an organ, or it can also be generalized. Pain also signals that something is wrong with the health or can be a sign of an underlying medical issue. When a person suffering from congenital insensitivity to pain and anhidrosis (CIPA) does not feel any pain, it puts them in a serious condition. Some categories of pain describe trauma, such as neuropathic pain, phantom pain, and central pain. The patients can help the physician diagnose the problem by describing the symptoms. When they cannot sense any impulse related to pain, it leads to further inconvenience or damage.
Why Is Sweating Important?
A clear and salty fluid secreting from the body is known as sweating. The glands of the body produce it. The human body comprises millions of sweat glands divided into eccrine and apocrine. Sweating is a normal reaction of the body, and the cause behind it can be a medical illness or condition such as cuts, burns, bone fractures, etc., raised temperature, emotions such as fear, anger, anxiety, and spicy foods. Sweating, if it occurs with other conditions like chest pain, anxiety, shortness of breath, or abnormal perspiration, can be a sign of a serious condition and may need immediate medical help. It helps to regulate body temperature. Patients suffering from congenital insensitivity to pain and anhidrosis (CIPA) may suffer from raised body temperature or high fever. High fever may lead to seizures, known as febrile seizures. Anhidrosis is a rare syndrome in which the sweat glands produce reduced or no sweat. Because of this, patients with congenital insensitivity to pain and anhidrosis face many severe health issues.
What Are the Symptoms of Congenital Insensitivity to Pain and Anhidrosis?
The symptoms are as follows:
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Anhidrosis. It is a condition when a person is unable to sweat from one or more areas of the body.
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Sweat gland aplasia. It is a condition when one or more of the sweat glands are absent.
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Inability to detect temperature fluctuations.
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Mental retardness.
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Osteomyelitis. It is a swelling or inflammation of bone tissue that generally results from an infection.
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Lost sensation to pain.
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Repeated infections.
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Self-Injury.
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Enabled immune system.
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Defective lower limb joints.
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Abnormal scarring of the skin.
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Abnormal gait or difficulty in walking.
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Dryness of the skin.
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The inflammation of the tissue layer called fascia is present beneath the skin.
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Charcot’s joint. It is a chronic, and damaging disease of the bone structure and the joints in patients with neuropathy.
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Inability to feel pain in fractured bones.
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Premature loss of teeth.
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Impaired learning skills.
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Abnormal behavior.
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Delayed growth etc.
How Is the Syndrome Diagnosed?
At birth, when responses like wincing and crying do not occur during a few medical procedures, for example, vaccination, the physician suspects something is wrong with the baby's condition. If a child falls and does not respond, it may be due to the syndrome. The aggressive pattern of self-mutilation, like biting the nails, fingers, and lips, can be observed in the patients. The physician may also check if the pain sensation is present by pricking your child with a needle. Also, to confirm the diagnosis, genetic testing can be done. Not many tests can be done to identify the syndrome, but a few applications or tools can help. Genetic testing is done to understand if the mutation is prevalent in the NTRK1 (neurotrophic tyrosine kinase receptor) gene. This test can be done as soon as the child takes birth or at any point in the child's life.
What Is the Treatment for Congenital Insensitivity to Pain and Anhidrosis?
Unfortunately, there is no specific cure for the syndrome, but it can still be managed to a certain limit. It needs a multidisciplinary aspect that includes physical health but also mental health. If the syndrome gets diagnosed at an early age, then it will make the parents or caregivers aware of the risk factors. The physicians can take care of the child’s self-injury by making the parents vigilant about the situation. In this syndrome, a patient may bite lips or grind the teeth forcefully, so a dental approach of protection is given to the patient, such as dental guards. Parents can child-proof their homes to make them safer for their children. Staphylococcus aureus infection is seen majorly in such patients, but antibiotic resistance makes the antibiotics of no use. Anhidrosis has to be managed and diagnosed early to prevent recurrent high fever, which could eventually lead to death. The treatment mainly focuses on educating the patient’s parents or caregivers about the syndrome.
Conclusion:
Congenital insensitivity to pain and anhidrosis (CIPA) is rare, making it less researched and observed. Research for better treatment and management is going on. It is always better to confirm the patient's diagnosis through genetic testing. Early diagnosis can give the patient a better life and avoid extreme surgical procedures.
