What is Bourneville disease?

A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.

What is tuberous sclerosis?

Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes mainly non-cancerous (benign) tumours to develop in different parts of the body. The tumours most often affect the brain, skin, kidneys, heart, eyes and lungs.

How do you get tuberous sclerosis?

Tuberous sclerosis can be the result of either:

  1. A random cell division error. About two-thirds of people who have tuberous sclerosis have a new mutation in either the TSC1 or TSC2 gene — the genes associated with tuberous sclerosis — and do not have a family history of tuberous sclerosis.
  2. Inheritance.

What is a Phakomatosis?

Introduction. Phakomatoses, also known as neurocutaneous syndromes, are a broad group of congenital disorders that are characterized by hamartomatous lesions of the skin and the central and peripheral nervous systems.

Can you live a normal life with tuberous sclerosis?

Most people will have a normal life span. There can be complications in organs such as the kidneys and brain that can lead to severe difficulties and even death if left untreated. To reduce these dangers, individuals with TSC should be monitored by their physicians for potential complications throughout their lives.

How does a baby get tuberous sclerosis?

Tuberous sclerosis can be inherited or happen randomly: Inherited. Most cases of tuberous sclerosis are due to a genetic mutation (change) in one of two genes, TSC1 or TSC2. A baby will be born with tuberous sclerosis if the child inherits a TSC gene from either parent.

At what age is tuberous sclerosis diagnosed?

Patients were diagnosed with TSC at ages ranging from birth to 73 years. The average age at diagnosis was 7.5 years. Of the patients, 81% were diagnosed before the age of 10. Diagnosis during adolescence and adulthood was not uncommon.

What is a Neurocutaneous disorder?

Neurocutaneous syndrome is a broad term for a group of rare neurological (brain, spine, and peripheral nerve) disorders. These diseases are lifelong conditions that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones. The most common disorders found in children are skin lesions.

What are the physical symptoms of tuberous sclerosis?

Symptoms of tuberous sclerosis

  • White spots on your skin that glow under a special lamp.
  • A rash on your face that may look like acne.
  • Problems with your kidneys.
  • Areas of very thick skin, often on your back.
  • Growths under or around your nails.
  • Pitted teeth.
  • Mental disabilities.
  • Developmental delays.

Does tuberous sclerosis cause autism?

Tuberous sclerosis complex (TSC) is a rare genetic disorder with an incidence of 1:6000 live births and estimated prevalence of 50,000 individuals in the United States. An estimated 40-50 percent of individuals with TSC have autism spectrum disorder, making TSC a leading genetic cause of syndromic autism.

Is Neurocutaneous curable?

Since neurocutaneous syndromes are lifelong conditions that are not curable, the focus is on medically managing the symptoms. A child is best treated with an interdisciplinary team that may include the following healthcare providers: Pediatrician/family practitioner. Neurologist.

Is tuberous sclerosis fatal?

Most people with TSC have a normal life expectancy. Research does not provide a definitive answer on life expectancy. TSC affects people in very different ways. Some people with TSC will have more life threatening signs and symptoms of TSC than others.

Is tuberous sclerosis an intellectual disability?

Background: Tuberous sclerosis complex (TSC) is associated with intellectual disability, but the risk pathways are poorly understood.

How many neurocutaneous syndromes are there?

The 3 most common types of neurocutaneous syndromes are tuberous sclerosis (TS), neurofibromatosis (NF), and Sturge-Weber disease. These diseases are all present at birth (congenital). They are caused by gene changes. A neurocutaneous syndrome is a lifelong condition that has no cure.

What are Cafe Ole spots?

Cafe au lait (ka-FAY o lay) birthmarks are flat areas of darkened skin, anywhere from tan to dark brown. They are permanent and very common. They can occur anywhere on the body, and the size increases as the child grows. Usually, no treatment is needed. Cafe au lait spots usually appear singly.

Which neurocutaneous syndrome is not inherited?

First described in 1879, Sturge-Weber syndrome (SWS; sometimes described as Sturge-Weber-Dimitri syndrome or by the more descriptive name encephalotrigeminal angiomatosis) is a sporadic neurocutaneous syndrome, with no known genetic cause. It is the third most common neurocutaneous disorder (after NF and TSC).