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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.
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 ...
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).
The signs and symptoms of hereditary sensory neuropathy type 1 typically appear during a person's teens or twenties. While the features of this disorder tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated. Type 1 is the most common form among the 5 types of HSAN.
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 ...
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]
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.
Orthostatic hypotension and significant gastrointestinal symptoms are also hallmarks of paraneoplastic dysautonomia. Paraneoplastic dysautonomia has been linked to thymoma, small-cell lung carcinoma, and, less frequently, breast cancer or lymphoma. At the time of the development of autonomic symptoms, the underlying malignancy is usually unknown.