DIAGNOSING TSC

Tuberous sclerosis complex (TSC) has a wide range of signs and symptoms, so it helps to organize them into major and minor features.

The following chart lists known TSC symptoms and the age group in which they may occur.

Major Features of TSC

Age When Symptoms First Appear

Skin:

  • 3 or more facial angiofibromas or fibrous cephalic plaque
  • Age When Symptoms First Appear
  • Infancy through adulthood
  • 2 or more ungual fibromas
  • Age When Symptoms First Appear
  • Adolescence through adulthood
  • 3 or more hypomelanotic macules of at least 5-mm diameter
  • Age When Symptoms First Appear
  • Infancy through childhood
  • Shagreen patches
  • Age When Symptoms First Appear
  • Childhood
  • Eyes: Multiple retinal hamartomas
  • Age When Symptoms First Appear
  • Infancy

Brain:

  • Cortical dysplasiaa
  • Age When Symptoms First Appear
  • Prenatal (before birth)
  • SENs
  • Age When Symptoms First Appear
  • Childhood through adolescence
  • SEGAs
  • Age When Symptoms First Appear
  • Childhood through adolescence
  • Heart: Cardiac rhabdomyoma
  • Age When Symptoms First Appear
  • Prenatal (before birth)
  • Other organs: 2 or more angiomyolipomas
  • Age When Symptoms First Appear
  • Childhood through adulthood
  • Lungs: LAMsb
  • Age When Symptoms First Appear
  • Adolescence through adulthood

Minor Features of TSC

  • Oral cavity: 3 or more pits in the tooth enamel, 2 or more intraoral fibromas
  • Kidney: Multiple cysts
  • Skin: "Confetti" skin lesions
  • Eyes: Retinal achromic patch
  • Other Organs: Non-renal hamartomas

aIncludes tubers and cerebral white matter radial migration lines.

bA combination of lymphangioleiomyomatosis (LAM) and angiomyolipomas without other features does not meet the criteria for a definite diagnosis.

It is important to note that though epilepsy is not part of the diagnostic criteria for TSC, it may be the most common sign. Epilepsy occurs in more than 90% of TSC patients and is a major sign that calls for further investigation of a potential TSC diagnosis.

Helpful Guidelines for Diagnosing TSC

Many symptoms associated with TSC can also be caused by other illnesses, so degrees of certainty have been established for diagnosing TSC.

These are based on the number of major and minor TSC symptoms found together in a person.

Possible TSC Diagnosis

Either 1 major feature or 2 or more minor features

Definite TSC Diagnosis

2 major features or 1 major feature plus 2 or more minor features or identification of a TSC1 or TSC2 pathogenic mutation, regardless of other features

To learn more about how TSC specialists test for symptoms, go to Take Charge.

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