Clinical manifestation

Skin lesions: angiofibromas (adenoma sebaceum) often in nasolabial folds and on cheeks and chin; periungual fibromas (Koenen tumors); connective tissue nevus (Shagreen patch), presenting as flesh-colored, soft plaque in the lumbosacral area; ash leaf-shaped macules on trunk or limb; guttate leukoderma; café au lait macules; poliosis

Neurologic changes: tuberosclerotic nodules of glial proliferation in cerebral cortex,

588 Tuberous sclerosis complex basal ganglia, and ventricular walls; number of tubers appears to correlate with clinical disease severity; epilepsy; mental retardation

Other features noted: schizophrenia; autistic behavior; and attention-deficit hyperac-tivity disorder

Miscellaneous findings: cardiac rhabdomy-omas; aortic aneurysm; renal angiomyol-ipoma and renal cysts; pulmonary lym-phangiomatosis with cyst formation; microhamartomatous polyps in bone cysts; pituitary adrenal dysfunction; thyroid disorders; premature puberty; diffuse cutaneous reticulohistiocytosis; gigantism

0 0

Post a comment