Neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) are neurocutaneous syndromes (phakomatoses). Although they share a name and both are autosomal dominant disorders, t...
Any one of: bilateral vestibular schwannomas before age 70 years or unilateral vestibular schwannoma before age 70 years and first-degree relative with NF2
Any two of...
Hearing augmentation; speech therapy, as needed
Vestibular schwannomas
Treatment to preserve function, quality of life, especially when there is a risk of brainstem compression, hearing loss, ...
Children of affected pare...
Acar S, Nieblas-Bedolla E, Armstrong AE, et al. A Systematic Review of Recent and Ongoing Clinical Trials in Patients With the Neurofibromatoses. Pediatr Neurol...
NF1 and NF2 are two distinct genetic disorders.
Vestibular schwannoma should be considered NF2 until proven otherwise.
Schwannomas of NF2 rarely (if ever) undergo malignant transformatio...
Sign up for a 10-day FREE Trial now and receive full access to all content.
FIGURE 12.2. Neurofibromatosis. Posterior view demonstrating various types of cutaneous tumors. These include the pedunculated molluscum fibrosum and subcutaneous neurofibromas. Note the area of hyperpigmentation of the right elbow and a typical café au lait lesion. (Courtesy of Dr. V. M. Riccardi, Neurofibromatosis Institute, La Crescenta, CA.)
FIGURE 12.2. Neurofibromatosis. Posterior view demonstrating various types of cutaneous tumors. These include the pedunculated molluscum f...
FIG. 6.27. A, B: This boy has the characteristic large cafe-au-lait lesions of neurofibromatosis.
FIG. 7.6. Neurofibromatosis. Discrete, hyperpigmented macules (arrows), referred to as cafe-au-lait spots, are visible on the backs of the legs of a patient with neurofibromatosis. (From Becker KL, Bilezikian JP, Brenner WJ, et al. Principles and practice of endocrinology and metabolism, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2001:1999, with permission.)
FIG. 7.6. Neurofibromatosis. Discrete, hyperpigmented macules (arrows), referred to as cafe-au-lait spots, are visible on the backs of the...
<bold>Fig SK 13-2. Neurofibromatosis.</bold> Bilateral acoustic neuromas (A) in a young girl with progressive bilateral sensorineural hearing loss.
<bold>Fig SK 13-2. Neurofibromatosis.</bold> Bilateral acoustic neuromas (A) in a young girl with progressive bilateral sensor...
<bold>Fig SK 24-14. Neurofibromatosis</bold> with hamartoma (arrows).
Figure 11-413 <bold>NEUROFIBROMATOSIS: FOOT.</bold> Observe the thin, irregular, scalloped appearance of the metatarsal bones. This deformity in the metatarsal bones is likened to the twisted ribbon appearance seen affecting the ribs in neurofibromatosis. Mesodermal dysplasia is the underlying pathologic process allowing this radiographic appearance to occur in neurofibromatosis.
Figure 11-413 <bold>NEUROFIBROMATOSIS: FOOT.</bold> Observe the thin, irregular, scalloped appearance of the metatarsal bones....
Figure 11-414 <bold>NEUROFIBROMATOSIS: DEFORMITY.</bold> Observe the bowing deformity of the tibia, with alteration of the bony texture as a result of the underlying changes of neurofibromatosis. (Courtesy of C.H. Quay, MD, Melbourne,Australia.)
Figure 11-414 <bold>NEUROFIBROMATOSIS: DEFORMITY.</bold> Observe the bowing deformity of the tibia, with alteration of the bon...
Neurofibromatosis type I - multiple neurofibromas
A large caf?u-lait macule in a patient with neurofibromatosis