This disease is inherited in an autosomal- dominant fashion.
Neurofibromatosis type I is characterized by malfunction on the neurofibromin 1 gene on chromosome 17.
A neurofibroma is a lesion or enlargement of the peripheral nervous system thought to derive from Schwann cells. They can arise sporadically or in association with neurofibromatosis type I and can infiltrate and encase major structures in the body.
A glioma is a tumor type that originates from glial cells in the CNS. An optic glioma is a glioma that affects the optic nerve and is one of the manifestations of neurofibromatosis type 1.
Lisch nodules are pigmented nodules that project from the surface of the iris. While they commonly do not affect vision, they can be useful in diagnosing neurofibromatosis type I.
Hamartomas are focal malformations in tissue that resemble a neoplasm, but they are benign and grow at the same rate as surrounding tissues. Lisch nodules are commonly described as hamartomatous, and are even referred to as iris hamartomas.
Cafe au lait translates from French to “coffee with milk.” These hyperpigmented macules are commonly considered to be a type of pigmented birthmark. However, having six or more café au lait spots >5 mm in diameter before puberty, or >15 mm after puberty, is a major diagnostic feature of neurofibromatosis type I.
Scoliosis, which is an abnormal, sideways curvature of the spine, is a common manifestation of neurofibromatosis type I.
A pheochromocytoma is an adrenal gland tumor that secretes the catecholamines epinephrine and norepinephrine. It can lead to severe, even life-threatening hypertensive episodes with associated symptoms. Patients with neurofibromatosis type I have a higher incidence of pheochromocytomas than the normal population.
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