Nursing implications for the lifelong management of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple organ systems, including the brain, heart, skin, kidney, and lung, by formation of benign hamartomas. It can be associated with autism, epilepsy, and other neurocognitive and behavioral disabilities. The incidence of TSC is approximately 1 in 6,000 live births, but it may be underdiagnosed. Mutations to either the TSC1 (coding for hamartin) or TSC2 (coding for tuberin) genes are present in 85% of patients with TSC. The TSC1/TSC2 protein dimer complex is a crucial inhibitory element in the mammalian target of rapamycin (mTOR) complex 1 pathway that regulates cell growth and proliferation. The manifestations of TSC usually require management over the entire life of the patient. Until recently, there were few options, other than surgical removal, for treating the symptoms of TSC related to growth of hamartomas. Increased understanding of the genetic cause of the disease and the underlying dysregulation of the mTOR pathway has led to clinical trials of mTOR inhibitors including sirolimus and everolimus. This article will review the various manifestations of TSC and describe treatment strategies, recommendations for surveillance, and use of mTOR inhibitors in their management.

Primary care management of tuberous sclerosis complex in children.

PURPOSE: To provide primary care providers with a general overview of the genetic disorder tuberous sclerosis complex (TSC). By understanding the disease mechanism for this genetic condition, providers can effectively care for TSC patients and properly educate families who are affected by TSC. The article also describes the multi-system clinical presentation of the disease to assist primary care providers with an early diagnosis. DATA RESOURCES: Research articles and evidence-based guidelines found through MEDLINE and the World Wide Web. CONCLUSIONS: Using various diagnostic tools and treatment options, providers can offer the multidisciplinary approach needed to manage this disease appropriately. New treatment options, such as rapamycin, may be the future drug of choice in treating TSC. IMPLICATIONS FOR PRACTICE: By following evidence-based clinical practice guidelines, providers can hope to reduce TSC-related morbidity and mortality.

Tuberous sclerosis complex: a review.

Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by the potential for hamartoma formation in almost every organ. The inheritance is autosomal dominant with almost complete penetrance but variable expressivity. The two gene loci that code for TSC are TSC1, located on chromosome 9q34, and TSC2 on 16p13.3. TSC complex may affect the skin, central nervous system, kidneys, heart, eyes, blood vessels, lungs, bone, and gastrointestinal tract. The diagnosis of TSC is based on the identification of hamartomas in more than one organ system. Treatment should be symptomatic and organ specific. A multidisciplinary management approach is necessary.

Tuberous sclerosis: how to recognise this challenging disorder.

Tuberous sclerosis is a multi-system genetic disorder affecting up to one in 6000 newborn infants. It is about one third as common as cystic fibrosis, and half as common as Duchennes muscular dystrophy, yet many doctors and health professionals are ill-acquainted with the condition. Parents who turn to medical text books for information find only a brief mention of a few, frequently out-dated facts. Antonia Clarke and John Osborne describe the symptoms of the disorder and the special needs of affected children and their families.

Tuberous sclerosis (Bourneville's disease).

1. Tuberous sclerosis is a hereditary disorder characterized by mental retardation, epilepsy, skin papules, and multiple developmental tumors, which involve every organ of the body including the eye. 2. Treatment is directed to control seizures and eliminate surface and systemic lesions by dermabrasion and surgery. 3. Genetic counseling is important for patients, their parents, and their siblings.