Tuberous Sclerosis - An overview

The name, composed of the Latin tuber (swelling) and the Greek skleros (hard)



Tuberous sclerosis is inherited in an autosomal dominant pattern of inheritance, and penetrance is variable.

In infants, the first clue is often the presence of seizures, delayed development or white patches on the skin.
A full clinical diagnosis involves
Taking a personal and family history.
Examining the skin under a Wood's lamp (hypomelanotic macules), the fingers and toes (ungual fibroma), the face (angiofibromas) and the mouth (dental pits and gingival fibromas).
Cranial imaging with non enhanced CT or, preferably, MRI (cortical tubers and subependymal nodules).
Renal ultrasound (angiomyolipoma or cysts).
An echocardiogram in infants (rhabdomyoma).
Fundoscopy (retinal nodular hamartomas or achromic patch).
The various signs are then marked against the diagnostic criteria to produce a level of diagnostic certainty:
Definite – Either two major features or one major feature plus two minor features.
Probable – One major plus one minor feature.
Suspect – Either one major feature or two or more minor features.
Due to the wide variety of mutations leading to TSC, there are no simple genetic tests available to identify new cases. Nor are there any biochemical markers for the gene defects.
However, once a person has been clinically diagnosed, the genetic mutation can usually be found. The search is time-consuming and has a 15% failure rate, which is thought to be due to somatic mosaicism. If successful, this information can be used to identify affected family members, including prenatal diagnosis. As of 2006, preimplantation diagnosis is not widely available.

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