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Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more extraordinarily rare conditions in which a person cannot feel (and has never felt) physical pain. [1] The conditions described here are separate from the HSAN group of disorders, which have more specific signs and cause.
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental.
Paroxysmal extreme pain disorder originally named familial rectal pain syndrome, is a rare disorder whose most notable features are pain in the mandibular, ocular and rectal areas as well as flushing. PEPD often first manifests at the beginning of life, perhaps even in utero, with symptoms persisting throughout life.
Type 4, congenital insensitivity to pain with anhidrosis (CIPA), is an autosomal recessive condition and affected infants present with episodes of hyperthermia unrelated to environmental temperature, anhidrosis and insensitivity to pain. Palmar skin is thickened and charcot joints are commonly present.
1960: Ervin and Sternbach describe 6 members from a 2-generation family with dominantly-inherited congenital insensitivity to pain. [ 4 ] 1974: Comings and Amromin describe 3 members from a 2-generation family which consisted of a mother, her son and her daughter with the symptoms characteristic of Marsili syndrome, there was a possibility that ...
In humans, mutations in the PRDM12 gene can cause loss of pain perception brought on by defects in the development of sensory neurons. [8] There are a number of diseases and conditions that can result from mutations in the PRDM12 gene. Congenital insensitivity to pain (CIP) is a characterized by an inability to feel pain. [17]
The onset of the disease varies between the 2nd and 5th decade of life, [2] albeit congenital or childhood onset has occasionally been reported. [1] [9] With the progression of the disease, the affected individuals lose the ability to feel pain in their feet and legs. Minor injuries in the painless area can result in slow-healing wounds which ...
FD results in variable symptoms, including insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia , problems with speech and movement, difficulty swallowing , and inappropriate perception of heat, pain and ...