Neurofibromatosis type 1 (NF-1) is an autosomal dominant tumor suppressor gene disorder.
NF-1 is diagnosed based on the presence of any two of the following National Institutes of Hea...
Growth
Accelerated linear growth may be first sign of precocious puberty and presence of optic pathway tumor (OPT).
Vision
OPTs generally occur before 7 years of age; young children rare...
Treatment of NF-1 should be performed in a multidisciplinary setting.
All 1st-degree relatives should be examined for the cutaneous manifestations of NF-1 and should undergo s...
Yearly visits allow the physician to identify early NF-1 complications while providing counseling and dissemination of information regarding NF-1.
All children wit...
Avery RA, Fisher MJ, Liu GT. Optic pathway gliomas. J Neuroophthalmol. 2011;31(3):269–278. [View Abstract on OvidInsights]
Brossier NM, Gutmann DH. Improving outcomes for neuro...
237.71 Neurofibromatosis, type 1 [von recklinghausen’s disease]
709.09 Other dyschromia
Q85.01 Neurofibromatosis, type 1
L81.3 Cafe au lait spots
92824003 neurofibromatosis, type 1 (d...
Q: My child has NF-1. What specialists must he see?
A: Your child should have annual follow-up with a physician familiar with the issues of NF, ideally in an NF-1 multidisciplinary clinic.
Q: Does m...
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FIG. 6.27. A, B: This boy has the characteristic large cafe-au-lait lesions of neurofibromatosis.
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. 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