Neurofibromatosis Type 1

FIGURE 63.12. Tuberous sclerosis with extensive reticulonodular infiltrates with some sparing of lower lung zones.

FIGURE 63.13. Tuberous sclerosis of lung evaluated by high-resolution computed tomography, showing typically diffuse fine honeycombing.

Figure 7.30. Multiple retinal astrocytomas (astrocytic hamartomas) in patient with tuberous sclerosis. Larger lesion is located just above center of macula, and small lesion is located just temporal to optic disc.

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 12.3. Tuberous sclerosis. A large intraventricular tuber produces increased intracranial pressure, flattening of the gyri, and herniation of the right temporal uncus (U). (Courtesy of Dr. P. Cancilla, Department of Pathology, University of California, Los Angeles, UCLA School of Medicine.)

FIGURE 12.5. Tuberous sclerosis. Characteristic fibrous plaque of the forehead and facial angiofibroma in a boy with an early stage of the condition.

FIG. 6.27. A, B: This boy has the characteristic large cafe-au-lait lesions of neurofibromatosis.

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.)

Tuberous Sclerosis Findings in young children include adenoma sebaceum as shown here (angiofibromas surrounding sweat glands). Older children may have oval, depigmented ash-leaf spots (not shown).

<bold>Fig B 31-6. Tuberous sclerosis.</bold> Cystlike expansion and characteristic wavy periosteal new bone formation about the proximal and middle phalanges of the second digit. Periosteal new bone formation is also seen along the shaft of the second metacarpal.

<bold>Fig SK 13-2. Neurofibromatosis.</bold> Bilateral acoustic neuromas (A) in a young girl with progressive bilateral sensorineural hearing loss.

<bold>Fig SK 24-14. Neurofibromatosis</bold> with hamartoma (arrows).

Figure 8-97 <bold>TUBEROUS SCLEROSIS: SMALL TUBULAR BONE INVOLVEMENT.Hand: Proximal Phalanges.</bold> Note the irregular subperiosteal new bone and nodules along the proximal phalangeal shafts (<italic>arrows</bold>).

Figure 8-98 <bold>TUBEROUS SCLEROSIS: PHALANGEAL CYSTS. Hand.</bold> Observe the small, well-defined cysts in the distal and middle phalanges (<italic>arrows</bold>). There is also subperiosteal new bone formation in the middle and proximal phalangeal shafts (<italic>arrowheads</bold>).

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 11-414 <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.)

<bold>Figure 70-7</bold> Tuberous sclerosis. Hypopigmented "confetti" macules on the back of a child with tuberous sclerosis. (Courtesy of George A. Datto, III, MD.)

Neurofibromatosis type I - multiple neurofibromas

<bold>FIGURE 28-109. Tuberous sclerosis.</bold> <bold>A.</bold> A large subependymal giant cell astrocytoma fills much of the left lateral ventricle. <bold>B.</bold> Microscopic section of a subependymal giant cell astrocytoma containing large elongated cells with abundant eosinophilic cytoplasm.

Forehead plaques and angiofibroma in adult (whose tuberous sclerosis went undiagnosed, until seen for renal complications in his early thirties).

A large caf?u-lait macule in a patient with neurofibromatosis