Tuberous sclerosis.

Tuberous sclerosis - also called tuberous sclerosis complex (TSC) - is a rare, multi-system genetic disorder affecting cellular differentiation & proliferation, which results in hamartoma formation in many organs. The classic triad of clinical features comprises mental retardation, epilepsy & skin lesion, but these three features are not always present. Mrs. Jahanara Khatun, a 30 years old lady presented with maculo-papular skin lesions over the face, neck, shoulder since her six years of age, a lump in the right lumber region for four years, pain in the right lumber region associated with passage of blood clot in urine for 15 days. Her family history was very characteristic. One of her elder brother had developed same type of skin lesions. Again her 13 years old daughter had developed same type of skin lesions since seven years of age & she was mentally retarded. Clinical examination revealed normal mentation, pin head sized yellowish red translucent discrete waxy papules situated in the face, neck, shoulder. A large tender firm irregular mass in the right lumber region, which was ballotable & moved with respiration. USG revealed bilateral retroperitoneal masses with the involvement of right kidney & formation of renal artery aneurysm. The patient undergone right sided nephrectomy & histopathology of the specimen showed features suggestive of renal angiomyolipoma. The patient was diagnosed as a case of definite tuberous sclerosis complex as she had two major feature of revised diagnostic criteria - facial angiofibromas & renal angiomyolipoma.