Tuberous sclerosis complex patient fulfilling the criteria set by the 2012 international tuberous sclerosis complex consensus conference

Abstract

Tuberous sclerosis complex (TSC) is a rare multisystem neurocutaneous disorder associated with the growth of benign tumors in different organs such as the brain, lungs, kidneys, heart, and eyes. The dermatological findings of this disorder are very common, present at early age and not easy to miss. The neurological manifestations of TSC include seizures, autism, and intellectual disabilities. Furthermore, intracranial abnormalities and hamartoma formation in the heart and other organs are found among sufferers. The clinical diagnostic criteria have been critically evaluated and updated in the 2012 International Tuberous Sclerosis Conference. The diagnosis is based on genetic criteria, clinical criteria, and various manifestations of skin, kidneys, lungs, and brain. The management involves multispecialty and multidisciplinary approaches. Here, we present a case of a 13-year-old female with characteristic clinical, radiological, and pathological features of TSC.

Keywords

• adolescents
• angiofibroma
• angiomyolipoma
• autosomal dominant disorder
• dermatology
• genetic disorders
• hamartomas
• multisystem disorder
• neurocutaneous disorder
• rare diseases
• skin patches
• tuberous sclerosis complex
• tuberous sclerosis complex criteria