Children with this eyelid problem are at risk for developing high eye pressure (glaucoma) or lazy eye (amblyopia). Eye findings: The eyelids may become thicker and irregularly shaped because of the growth of a neurofibroma.
Nodule(s) on the skin may develop at any age. The spots tend to increase in size and number during the first 10 years of life. These dark spots are typically greater than 5mm in diameter (often irregularly shaped) and are usually located under the arms, in the bend of the elbow and knee, and around the groin region. Skin findings: Freckles (cafe-au-lait spots) on the skin.Some family members may have minimal disease, while others may be more severely affected. Neurofibromatosis type I may affect family members differently.
WHAT ARE THE FINDINGS IN NEUROFIBROMATOSIS? About 1 in 3000-5000 has neurofibromatosis type I, while about 1 in 25,000 have type II.įig. Neurofibromatosis type I is more common than neurofibromatosis type II. In neurofibromatosis type I, chromosome 17 is responsible for the disease while chromosome 22 is responsible for neurofibromatosis type II. Each child of an involved parent has a 50% chance of developing neurofibromatosis. Neurofibromatosis tends to run in families, although about 50% of cases have no family history in these cases, the cause is a new mutation.
Neurofibromatosis skin lesions are typically flat, pigmented patches but occasionally are elevated flesh-colored bumps. The growths occur along nerve paths, anywhere in the body. Neurofibromatosis is a condition characterized by multiple growths which derive from primitive cells in the body.