Dr. RAMANUJ SAMANTA

Dr.GITANJLI SOOD, Dr. AJAI AGRAWAL

Abstract

Tuberous sclerosis complex (TSC) is a rare phakomatosis (neurocutaneous disorder with multiple glial cell tumors) characterized by multiple systemic hamartomas. It is inherited as autosomal dominant disorder with high degree of penetrance and variable phenotypic expression. It can involve various organs of the body namely brain, kidney, eye, heart, liver, skin, lungs etc. Retinal astrocytic hamartomas (RAH) are primary ophthalmic features of TSC. In this report, we demonstrated ocular, dermatological, neurological, renal and skeletal features of TSC in a young lady who initially presented with burning micturition and skin lesions. Careful history and examination revealed similar features in her daughter too, which were also illustrated. This report is unique in photographically depicting classic ocular and multisystem involvements of a rare disease, TSC in successive generations.