Lexic.us

Definition of Neurofibromatosis

1. Noun. Autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities.

Definition of Neurofibromatosis

1. Noun. (medicine) A genetic disorder characterized by the presence of multiple neurofibromas under the skin ¹

¹ Source: wiktionary.com

Medical Definition of Neurofibromatosis

1. One of the most common disorders in genetics, neurofibromatosis encompasses at least two diseases, designated NF-1 and NF-2. NF-1 or classic neurofibromatosis, is characterised by the familiar cafe- au-lait spots, axillary freckling, cutaneous and visceral neurofibromas (which sometimes undergo malignant transformation), gliomas, scoliosis, and Lisch nodules of the iris. NF-1 is associated with the the von Recklinghausen Neurofibromatosis locus that encodes the NF-1 protein, a GTPase activating protein which interacts with the ras proteins. The gene is located on chromosome 17. NF-2, also called acoustic or central neurofibromatosis, features neurofibromas restricted to the acoustic nerve (usually bilateral) and the central nervous system, skin lesions may or may not be present. The gene is located on chromosome 22. There are no biochemical markers of the disorder, but the cloning of both the NF-1 and NF-2 genes makes DNA-based diagnosis possible in some families. Both genes appear to be tumour suppressor genes. Both conditions are autosomal dominant, but the variable penetrance and expressivity and high frequency of new mutations make genetic counseling difficult. Inheritance: autosomal dominant. (29 Dec 1997)

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Literary usage of Neurofibromatosis

Below you will find example usage of this term as found in modern and/or classical literature:

1. Journal of Nervous and Mental Disease by American Neurological Association, Philadelphia Neurological Society, Chicago Neurological Society, New York Neurological Association, Boston Society of Psychiatry and Neurology (1915)
"ORIGINAL ARTICLES TABLE OF CONTENTS Report of a Case of Central and Peripheral neurofibromatosis. ..."

2. Nervous and Mental Disease Monograph Series (1913)
"neurofibromatosis. Familial Von Recklinghausen's Disease. "Generalized neurofibromatosis is always congenital, often hereditary and sometimes familial. ..."

3. A Manual of surgery for students and physicians by Francis T. Stewart (1921)
"Brownish pigmentation of the skin, in patches or diffused, may appear in any of the forms of neurofibromatosis, the face, the neck, and the trunk being the ..."

4. Neoplastic Diseases: A Treatise on Tumors by James Ewing (1922)
"In several cases reported by P. Bruns the elephantiasis was associated with definite neurofibromatosis. In certain cases usually congenital the thickened ..."

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