Tuberous Sclerosis Complex (TSC) Overview
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Questions and Answers

What genetic disorder is characterized by an increased predisposition to hamartoma formation?

  • Turner syndrome
  • Fragile X syndrome
  • Tuberous sclerosis complex (TSC) (correct)
  • Klinefelter syndrome

    • Which genes are mutated in individuals with Tuberous sclerosis complex (TSC)?

  • TP53
  • BCR-ABL
  • BRCA1 and BRCA2
  • TSC1 and TSC2 (correct)

    • What neurological disorders are commonly associated with Tuberous sclerosis complex (TSC)?

  • Multiple sclerosis
  • Alzheimer's disease
  • Parkinson's disease
  • Epilepsy and intellectual disability (correct)

    • At what stage of life are hypopigmented macules usually found in individuals with Tuberous sclerosis complex (TSC)?

    <p>Early childhood</p> Signup and view all the answers

    What percentage of patients with Tuberous sclerosis complex (TSC) have detectable skin lesions of all ages?

    <p>90%</p> Signup and view all the answers

    When are facial angiofibromas more commonly found in individuals with Tuberous sclerosis complex (TSC)?

    <p>Adolescence</p> Signup and view all the answers

    What is the main role of orientation and counseling in the management of tuberous sclerosis?

    <p>To support patients and family members in coping with the overwhelming nature of the disorder</p> Signup and view all the answers

    Which genes are responsible for the production of proteins that regulate cell division and growth in the body?

    <p>TSC1 and TSC2</p> Signup and view all the answers

    What is the inheritance pattern of tuberous sclerosis?

    <p>Autosomal dominant</p> Signup and view all the answers

    What is the role of hamartin and tuberin proteins in the body?

    <p>Control cell growth and division</p> Signup and view all the answers

    Which organs are commonly affected by tumors in tuberous sclerosis?

    <p>Brain and kidneys</p> Signup and view all the answers

    What may result from the presence of cardiac rhabdomyomas in newborn infants?

    <p>Fatality</p> Signup and view all the answers

    What is the most common cause of fatality for patients exhibiting evidence of lymphangioleiomyomatosis?

    <p>Lung complications</p> Signup and view all the answers

    Which of the following organs is NOT typically affected by tuberous sclerosis?

    <p>Spleen</p> Signup and view all the answers

    What is the 50% risk of inheriting tuberous sclerosis for children of a parent with the condition a result of?

    <p>Autosomal dominant inheritance pattern</p> Signup and view all the answers

    Which clinical manifestation of Tuberous sclerosis complex (TSC) is commonly found in adolescence?

    <p>Facial angiofibromas</p> Signup and view all the answers

    At what developmental stage are skin lesions most commonly detected in patients with Tuberous sclerosis complex (TSC)?

    <p>Infancy</p> Signup and view all the answers

    Which genetic disorder is characterized by an increased predisposition to hamartoma formation?

    <p>Tuberous sclerosis complex (TSC)</p> Signup and view all the answers

    What is the main cause of fatality for patients exhibiting evidence of lymphangioleiomyomatosis?

    <p>Pulmonary lesions</p> Signup and view all the answers

    What developmental stage is characterized by the appearance of ungual fibromas in individuals with Tuberous sclerosis complex (TSC)?

    <p>Puberty</p> Signup and view all the answers

    In individuals with Tuberous sclerosis complex (TSC), what may be present prenatally?

    <p>Cardiac rhabdomyomas</p> Signup and view all the answers

    What is the main role of hamartin and tuberin proteins in the body?

    <p>To regulate gene transcription and suppress tumor growth</p> Signup and view all the answers

    What is the inheritance pattern of tuberous sclerosis?

    <p>Autosomal dominant</p> Signup and view all the answers

    What is the most common cause of fatality for patients exhibiting evidence of lymphangioleiomyomatosis?

    <p>Pulmonary cysts</p> Signup and view all the answers

    What is the 50% risk of inheriting tuberous sclerosis for children of a parent with the condition a result of?

    <p>Inheritance of a defected TSC1 or TSC2 gene</p> Signup and view all the answers

    What genetic disorder is characterized by an increased predisposition to hamartoma formation?

    <p>Tuberous sclerosis</p> Signup and view all the answers

    Which organs are commonly affected by tumors in tuberous sclerosis?

    <p>Brain, skin, heart, kidney, liver, and lungs</p> Signup and view all the answers

    What may result from the presence of cardiac rhabdomyomas in newborn infants?

    <p>Cardiac failure</p> Signup and view all the answers

    What may be inherited or may occur spontaneously in cases of tuberous sclerosis?

    <p>A mutation in the TSC2 gene</p> Signup and view all the answers

    What is the exact mechanism of pathology that leads to unregulated cell growth and tumor formation in tuberous sclerosis?

    <p>Changes in the signaling of mTOR</p> Signup and view all the answers

    What is the role of orientation and counseling in the management of tuberous sclerosis?

    <p>To assist patients and family members overwhelmed by the disorder</p> Signup and view all the answers

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