Tuberous Sclerosis

Abstract

Tuberous sclerosis is a rare autosomal dominant genetic disorder. It is characterized by the appearance of benign tumors, known as hamartomas, which can affect multiple organs, including the skin. Cutaneous manifestations are present in almost all patients; therefore, the dermatologist has a fundamental role in the history and evolution of the disease in spite of being a multisystemic disorder. Two tumor suppressor genes, CET1 and CET2, involved in tissue growth and cell proliferation, show mutation in this disease, which leads to the appearance of various benign tumors, hamartomas. Clinical characteristics are more than three hypomelanotic macules, more than three angiofibromas or face or scalp cephalic fibrotic plaque, more than two ungual fibromas, shagreen plaque, multiple retinal hamartomas, etc. Treatment is basically symptomatic, and genetic counseling is very important. This is an autosomal dominant disorder, although there is spontaneous mutation and no familial history in 65% of patients. When one of the parents is affected, genetic study is useful for prenatal diagnosis.