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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 ...
Causes Genetic mutations 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.
Little to no ability to sweat (hypo/anhidrosis) Frontal bossing (prominence of the forehead) Wrinkling under the eyes; Periorbital hyperpigmentation; These symptoms are accompanied by an immunodeficiency that affects the entire body and impairs the body's antibody response (especially that to polysaccharides).
Acquired idiopathic generalized anhidrosis appears to have a variety of etiologies. Theoretically, dysfunction or degeneration of cholinergic sympathetic nerve fibers involved in sweating (sudomotor neuropathy), dysfunction of acetylcholine receptors and/or cholinergic signals (idiopathic pure sudomotor failure may fall under this category), and primary failures of the sweat glands with ...
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.
Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern, called x-linked hypohidrotic ectodermal dysplasia (XLHED). A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes.
Another gene implicated in human pain insensitivity is ZFHX2, which encodes zinc finger homeobox 2. A 2018 study analysed six members of a family with inherited pain insensitivity and identified a "novel point mutation in ZFHX2, encoding a putative transcription factor expressed in small diameter sensory neurons", as the cause.
Some substances cause cancer primarily through their physical, rather than chemical, effects on cells. [32] A prominent example of this is prolonged exposure to asbestos, naturally occurring mineral fibers which are a major cause of mesothelioma, which is a cancer of the serous membrane, usually the serous membrane surrounding the lungs. [32]