Tuberous sclerosis complex: review based on new diagnostic criteria

Abstract

Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. The treatment of tuberous sclerosis complex consists, mainly, in management of the symptoms caused by hamartomas and in prevention of organ failure. Multidisciplinary approach is recommended, in order to obtain better clinical outcomes.

Glomus Tumor of the Kidney in a Child With Tuberous Sclerosis

“…The most common findings are benign tumors in the skin, brain, kidneys, lung, and heart, leading to organ dysfunction when normal parenchyma is replaced by various tumor types. 17,18 Renal neoplasms occur with a high frequency and a wide range of severity in TSC. The most common tumor in TSC is renal angiomyolipoma (AML) which develops in up to 80% of patients with TSC.…”

“…The most common tumor in TSC is renal angiomyolipoma (AML) which develops in up to 80% of patients with TSC. 18 Renal cell carcinoma, high-grade oncocytic tumor, eosinophilic solid, and cystic renal cell carcinoma are also occasionally reported, [20][21][22] but renal glomus tumors have not been documented in TSC. We initially considered a diagnosis of epithelioid AML, but negative immunohistochemical staining for HMB45 and melan A did not provide positive support for this diagnosis.…”

“…[2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] Patients with tuberous sclerosis complex (TSC) have an increased risk of developing a number of benign tumors in multiple organs including skin, central nervous system, kidney, and lung. 17,18 However, there are few reports about glomus tumor in patient with TSC. The lung was the only anatomic site in which glomangiomata has ever been described in a patient with TSC by Baar and Galindo in 1964.…”

Late-presenting congenital diaphragmatic hernia in an infant with tuberous sclerosis – case report and a review of the literature

“…Tuberous sclerosis complex (TSC) is a genetic neurocutaneous syndrome that is characterized by multiple, mostly nonmalignant tumours called hamartomas, in many organs, such as the skin, eyes, brain, liver, kidney, heart and lungs [1]. TSC is a chronic, progressive, autosomal dominant disorder [2], and is caused by a mutation in TSC1 (hamartin) or TSC2 (tuberin) suppressor genes.…”

Retinal astrocytic hamartoma in tuberous sclerosis

“…Tuberous sclerosis complex is a multisystemic neurocutaneous condition with autosomal dominant inheritance, characterized by hamartomas that affect multiple organs, including skin, central nervous system, heart, lungs, kidneys, and eyes. [1] In 2012, the second International Tuberous Sclerosis Complex Consensus Conference held in Washington revised the prior existing criteria, the most significant being the incorporation of genetic testing[2](we could not do genetic testing in our case due to financial constrains). Retinal astrocytic hamartoma, one of the major criteria for the diagnosis of tuberous sclerosis complex,[2] occurs in approximately 50% of patients.…”