Tuberous sclerosis complex

Illustration of Tuberous sclerosis complex

Syndrome description

Tuberous sclerosis syndrome is a multisystem disorder characterized by a wide clinical spectrum, from simple skin signs (facial angiofibromas, fibrous facial plaques, hypomelanotic macules, shagreen patches, ungual fibromas) to severe neurological pathologies (epilepsy, developmental delay, mental retardation, and autism) and with hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung.


Prevalence

0.91 children out of 10.000

Tuberous sclerosis complex affects boys and girls equally. Rhabdomyomas are the most common tumors, accounting for two-thirds of the cardiac masses detected in the fetus and neonate.

Codification

Orpha: 805
OMIM: 191100  613254
UMLS: C0041341
MeSH: D014402
GARD: 7830  946
MedDRA: 10045138

A little story

Credit is usually given to D. Bourneville, who recognized it in 1880. Hamartomatous lesions develop in many tissues, especially the skin and brain.

Diagnostic criteria were set forth by the National Tuberous Sclerosis Association in 1992 and modified in 2004. Two major features or one major feature plus two minor features make the diagnostic of tuberous sclerosis complex (TSC).

Anomalies detectable by ultrasound

Anomalies: very frequent – 80% or more

1st trimester

2nd and 3rd trimester

  • Cortical tubers (most often supratentorial)
  • Subependymal nodules
  • Abnormality of the kidney (hyperechogenicity)

Anomalies: frequent 30 – 80%

1st trimester

  • Abnormal cerebral ventricle morphology
  • Abnormality of the nervous system

2nd and 3rd trimester

  • Cardiac rhabdomyoma (often multiple and increase in size up to 32-35 weeks)
  • Tachyarrhythmias
  • Hydrops
  • Renal cyst

Anomalies : occasional < 30%

1st trimester

2nd and 3rd trimester

  • Subependymal giant-cell astrocytoma
  • Hydrocephalus (by obstruction of the foramen of Monro)

Abnormalities detectable by MRI

Cortical tubers, subependymal nodules, subependymal giant cell astrocytoma.

Genetic / chromosomal Diagnosis

TSC is inherited as an autosomal dominant trait.
Mutations in the TSC1 or TSC2 genes (chromosomes 9q34.13 and 16p13)

De novo mutations are responsible for two-thirds of cases.
Only 10%–20% of the cases do not have a specific mutation, and these are deemed to be due to mosaicism.

In case of family history or on detection of cardiac rhabdomyomata, prenatal diagnosis of TSC is therefore possible by searching for the TSC1 and TSC2 mutations.

Differential diagnosis

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis is seen in up to 5% of patients presenting with TSC and should be excluded. Other differential diagnoses include vitiligo, Ito hypomelanosis, acne, skin rash, cardiac myxoma, isolated brain tumors, pulmonary emphysema, and kidney cysts.

Expert editor: Emmanuel Spaggiari – Last update: 15 mai 2022

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Emmanuel Spaggiari
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