Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that affects almost all of the organs of the body, including the brain, heart, lungs, liver, and kidneys. Brain tumors in TSC patients include cortical tubers, subependymal nodules (SENs), and Subependymal giant cell astrocytomas (SEGAs). Seizures that occur in 92% of patients with TSC are an important cause of sudden deaths in them. Other organ involvement includes renal angiomyolipomas, lymphangioleiomyomatosis, cardiac rhabdomyomas, and cutaneous manifestations (hypomelanotic macules, angiofibromas, ungual fibromas, shagreen patch, and 'confetti' skin lesions). There is a criterion for tuberous sclerosis complex that consists of 11 major and 6 minor clinical features that diagnosis occurs based on it. The best way for definitive diagnosis of TSC in a patient is using genetic tests and histopathology. Immunohistochemistry is a helpful method in confirming the diagnosis of brain tumors in TSC. Immunostaining of SEGA shows positivity for GFAP and S-100 protein while neurofilament and synaptophysin are negative. Ki-67, which indicates nuclear proliferation, has a low proliferation index in immunostain. At the beginning of aggression the tumor or manifestation of hydrocephalus and symptoms of rising intracranial pressure and focal neurologic deficit, surgery is a necessity and can improve outcome. The aim of this study is a concise review of literature for clinicians and pathologists for better diagnosis and management of disease with variable manifestation.

Keywords

• Tuberous sclerosis complex, Clinic, Pathology, Mini review