Tuberous sclerosis complex (TSC) is a genetic neurocutaneous syndrome (phakomatosis).
Classic triad: intellectual disability, facial angiofibromas, and seizures; multiple hamartomas
Sy...
Most common initial presenting signs in infants: cardiac rhabdomyomas (59%), hypopigmented macules or other skin findings (39%); 85% of infants presented with either or both (4).
35% present...
Anticonvulsants for seizure control. Vigabatrin most commonly used for control of epileptic spasms of children with TSC (serial visual field testing necessary). Early control of se...
Pediatric
Annual physical exam, growth assessment
Teach parents to recognize epileptic spasms.
Annual ophthalmologic exam (6)[C]
Annual development...
Randle SC. Tuberous sclerosis complex: A review. Pediatric Annals. 2017:46(4):11e166–171.
Wataya-Kaneda M, Uemura M, Fujita K, et al. Tuberous scleros...
7199000 tuberous sclerosis syndrome (disorder)
36025004 Fibrous skin tumor of tuberous sclerosis (disorder)
254243001 Ash leaf spot, tuberous sclerosis (disorde...
TSC1 not always milder than TSC2. Consensus guidelines for surveillance do not depend on gene or variant identified, or on level of mosaicism (7)[C].
Hypopigmented macules (ash-leaf sp...
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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).
Tuberous Sclerosis Findings in young children include adenoma sebaceum as shown here (angiofibromas surrounding sweat glands). Older chil...
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 7.30. Multiple retinal astrocytomas (astrocytic hamartomas) in patient with tuberous sclerosis. Larger lesion is located just above...
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 12.3. Tuberous sclerosis. A large intraventricular tuber produces increased intracranial pressure, flattening of the gyri, and hern...
FIGURE 12.5. Tuberous sclerosis. Characteristic fibrous plaque of the forehead and facial angiofibroma in a boy with an early stage of the condition.
FIGURE 12.5. Tuberous sclerosis. Characteristic fibrous plaque of the forehead and facial angiofibroma in a boy with an early stage of the...
<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 B 31-6. Tuberous sclerosis.</bold> Cystlike expansion and characteristic wavy periosteal new bone formation about th...
<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 8-97 <bold>TUBEROUS SCLEROSIS: SMALL TUBULAR BONE INVOLVEMENT.Hand: Proximal Phalanges.</bold> Note the irregular subpe...
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 8-98 <bold>TUBEROUS SCLEROSIS: PHALANGEAL CYSTS. Hand.</bold> Observe the small, well-defined cysts in the distal and m...
<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.)
<bold>Figure 70-7</bold> Tuberous sclerosis. Hypopigmented "confetti" macules on the back of a child with tuberous sclerosis. ...
<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.
<bold>FIGURE 28-109. Tuberous sclerosis.</bold> <bold>A.</bold> A large subependymal giant cell astrocytoma fills ...
Forehead plaques and angiofibroma in adult (whose tuberous sclerosis went undiagnosed, until seen for renal complications in his early thirties).
Forehead plaques and angiofibroma in adult (whose tuberous sclerosis went undiagnosed, until seen for renal complications in his early thi...