Tuberous Sclerosis Information


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Home :: Diseases :: Tuberous Sclerosis

Tuberous Sclerosis Information - symptom, cause, treatment of Tuberous Sclerosis

Tuberous Sclerosis Information

Tuberous sclerosis may occur sporadically or on a familial basis with autosomal dominant inheritance. The responsible gene is located on the long arm of chromosome 9 in at least some cases. Its pathogenesis is unknown. Neurologic presentation is with seizures and progressive psychomotor retardation beginning in early childhood. The cutaneous abnormality, adenoma sebaceum, becomes manifest usually between 5 and 10 years of age and typically consists of reddened nodules on the face (cheeks, nasolabial folds, sides of the nose, and chin) and sometimes on the forehead and neck. Other typical cutaneous lesions include subungual fibromas, shagreen patches (leathery plaques of subepidermal fibrosis, situated usually on the trunk), and leaf-shaped hypopigmented spots. Associated abnormalities include retinal lesions and tumors, benign rhabdomyomas of the heart, lung cysts, benign tumors in the viscera, and bone cysts.

The disease is slowly progressive and leads to increasing mental deterioration. There is no specific treatment, but anticonvulsant drugs may help in controlling seizures.


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