Significance of Neurofibromatosis type 1
Neurofibromatosis type 1 is the most common form of neurofibromatosis, constituting around 90% of cases. This genetic disorder is marked by the formation of multiple benign tumors on nerves and can result in various skin changes as well as an elevated risk for certain tumors. It is an autosomal dominant condition characterized by an array of phenotypic features, such as hyperpigmented spots, neurofibromas, Lisch nodules, and skeletal abnormalities, along with a predisposition to develop other neoplasms.
Synonyms: Nf1, Neurofibromatosis
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The concept of Neurofibromatosis type 1 in scientific sources
Neurofibromatosis type 1 is an autosomal dominant disorder, comprising about 90% of neurofibromatosis cases, marked by hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities, and neoplasm development. It exhibits diverse skin and oral manifestations.
From: The Malaysian Journal of Medical Sciences
(1) A genetic disorder characterized by the development of multiple benign tumors on nerves, which can also be associated with skin changes and increased risk of certain other tumors.[1] (2) An autosomal dominant disorder characterised by various phenotypic features including hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities, and a tendency to develop neoplasms.[2]
From: South African Family Practice
(1) Neurofibromatosis type 1 is a genetic disorder that can be associated with an increased risk of developing certain tumors, including pheochromocytomas and paragangliomas.[3]
From: South African Journal of HIV Medicine
(1) This is a genetic condition, which is also known as NF 1, characterized by the slow development of tumor lesions during childhood and adolescence, as well as the formation of hamartomas.[4]