Diagnosis of tuberous sclerosis complex

Tuberous sclerosis complex is a autosomal dominant instantly progressing disease, causing the development of benign tumors in all organs and tissues of human body. According to International Consensus Conference (2012), definite or possible TSC diagnosis can be made. For the definite diagnosis of TSC, two major criteria or one major criterion and ≥2 minor criteria have to be present. For a possible diagnosis, 1 major criterion or ≥2 minor criteria should be found. A pathogenic mutation in the TSC1 or TSC2 gene is by itself sufficient for a definite diagnosis. There are following major diagnostic criteria: angiofibromas (≥3) or forehead plaque; hypomelanotic macules (≥3); ungual fibromas (≥2); chagrin patch; multiple retinal hamartomas; cortical dysplasias (≥3, include tubers and cerebral white matter radial migration lines; subependymal nodules; subependymal giant cell astrocytoma; cardiac rhabdomyoma; lymphagioleiomatosis and renal angiomyolipomas (≥2). The minor criteria are the following ones: dental enamel pits (≥3); intraoral fibromas (≥2); non-renal hamartomas; retinal achromatic patch; confetti skin lesions; multiple renal cysts. Diagnosis of TSC is not difficult if a physician is familiar with clinical presentation of the disease.