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Tuberous sclerosis


ICD-10: Q85.1

ORPHA: 805

General information

Estimated occurrence
10:100,000 live births.
TSC is caused by a genetic mutation, which, in turn, disrupts normal cellular development in the bodily organs. Although the genetic mutation is congenital, it often occurs as a spontaneous mutation. The pattern of heredity is an autosomal dominant genetic trait. At least two different genes, one on chromosome 9 and one on chromosome 16, have been found to give rise to this mutation.
General symptoms
The anomalies may be found in one or more organs, and may be minor or major. Organs that may be affected include the brain, kidneys, heart, eyes, lungs, nails and skin. The most common symptoms are skin abnormalities, and the most discernible functional disabilities include epilepsy, mental retardation and autism or autistic traits. Hyperactivity is a serious problem in nearly half of all individuals with severe tubular sclerosis. Impulse control disabilities and temper tantrums are also very frequent symptoms.

Orofacial/odontological symptoms

Enamel aberrations in the form of pitting are frequent. Gum fibromas may occur, particularly in the region of the front teeth. There is a risk of bone cyst formation in the jaw. Speech- and language development is often delayed, and some of these children never acquire speech. Eating difficulties and drooling are common.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • When enamel pitting occurs, this seldom requires treatment but may increase the risk for caries.
  • Because of the risk for bone cyst formation in the jaw, radiographic evaluation is recommended by the age of 6 to 7 years or earlier if asymmetry, asymptomatic swelling or delayed or abnormal tooth eruption sequence is evident.
  • Orofacial therapy and oral motor skills training and stimulation in cases of difficulties with eating, speech or saliva leakage may be relevant.
  • Speech, language and communication training are often required.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.


Teng et al. Dermatological and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements. JAMA Dermatology 2014; 150:1095-1101.

Updated: 2019-11-12 14:56