Clinical Features

Tuberous sclerosis complex (TSC): clinical features. TSC is an autosomal-dominant multisystem disorder with a minimal prevalence of 1 in 10,000 [30, 31]. It is characterized by the development of multiple hamartomas (benign tumors composed of abnormally arranged and differentiated tissues) in various organs. The most common manifestations are dermatologic (see Fig. 9-32) and neurologic (see Fig. 9-33). Renal involvement occurs in 60% of cases and includes cysts (see Fig. 9-34). Retinal involvement, occurring in 50% of cases, is almost always asymptomatic. Liver involvement, occurring in 40% of cases, includes angiomyolipomas and cysts. Involvement of other organs is much rarer [31, 32].

FIGURE 9-32 (s

FIGURE 9-32 (s

Tuberous sclerosis complex (TSC): skin involvement. Facial angiofibromas, forehead plaque, A, and ungual fibroma, B, characteristic of TSC. Previously (and inappropriately) called adenoma sebaceum, facial angiofibromas are pink to red papules or nodules, often concentrated in the nasolabial folds. Forehead fibrous plaques appear as raised, soft patches of red or yellow skin. Ungual fibromas appear as peri- or subungual pink tumors; they are found more often on the toes than on the fingers and are more common in females. Other skin lesions include hypomelanotic macules and "shagreen patches" (slightly elevated patches of brown or pink skin). (Courtesy of A. Bourloud and C. van Ypersele.)

Tuberous sclerosis complex (TSC): central nervous system involvement. Brain CT shows several subependymal, periventricular, calcified nodules characteristic of TSC. Subependymal tumors and cortical tubers are the two characteristic neurologic features of TSC. Calcified nodules are best seen on CT, whereas noncalcified tumors are best detected by magnetic resonance imaging. Clinical manifestations are seizures (including infantile spasms) occurring in 80% of infants, and varying degrees of intellectual disability or behavioral disorder, reported in 50% of children [32].

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