Primary care management of tuberous sclerosis complex in children

Abstract

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.

Oral findings in a family with Tuberous sclerosis complex

“…The oral healthcare professional must always request a detailed medical report on the condition of the TSC patient, and follow evidence‐based clinical practice guidelines, working together with the whole medical team that is monitoring the patient. In the present report this close partnership of the medical and dental teams has been maintained and will continue as the children grow up.…”

“…TSC is a complex, multisystem disease that requires a lot of knowledge, care, and follow‐up with a multidisciplinary approach in order to provide an effective management of the patients. Patients with TCS, especially children must be appropriately referred by evidence‐based practice guidelines and parents must be instructed with support and resources . Thus, this paper presents a case report of a family with TSC emphasizing their oral manifestations and what pediatric dentists need to know about this disease to be able to provide a better quality of life for these patients.…”

An unusual presentation of tuberous sclerosis

“…TS is a rare multi-system genetic disorder with autosomal dominant inheritance that causes non-malignant tumours to grow in the brain, kidneys, heart, eyes, lungs and skin 1 2. The disease is caused by a mutation of either of two genes, TSC1 or TSC2, that code for the proteins hamartin and tuberin, respectively, which act as tumour growth suppressors 3 4…”