Tuberous sclerosis complex

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic condition which is characterized by the growth of multiple benign tumors in many sections of the body , including the brain, heart, lung, eyes. TSC is due to mutations in both TSC1 and TSC2 genes which encode hamartin and tuberin proteins respectively. The tumour-growth proteins, which control cell proliferation and differentiation, inhibit these proteins. Live dominant birth rates are reported to vary from 10 to 16 per 100,000. TSC is prevalent throughout the world in both genders and is not bounded by any ethnic or racial differences. There is no such definite therapeutic cure for TSC. However medical interventions can reduce the severity of the symptoms.

We report a case of 19 years old unmarried female presented with complains of abdominal pain and diarrhea for 10 months, shortness of breath and easy fatiguability for 2 months, fever for 3 weeks. Her vitals were, B.P was 100/80mmhg, pulse 104 bpm regular, temp 99.8, R/R 18.. The patient presented with erythematous vesiculopapular lesions on both cheeks, nose and forehead, hypopigmented lesions on various parts of the body. On abdominal examination both the kidneys were ballotable.