Almost all tumor diseases have a genetic background but not a direct cause of the occurrence of tumors referred to but only about the increased risk factors.

To trigger the onset of tumors that required the existence of other factors such as lifestyle, environmental conditions and others.

But apparently, there is one type of tumor disease which is caused purely by genetic factors without involvement of other factors. This disease called tuberous Sclerosis Complex (TSC).

TSC is caused by mutations in one of two genes, both of which are named according to the resulting disease, TSC1 (chromosome 9) and TSC2 (chromosome 16).

This disease occurs and is passed (if it is a familial case) is autosomal dominant. That is, it takes only a mutation in one (of two) copies of genes pertinent to trigger the onset of the disease.

In this case a mutation in one parent is enough to bring the possibility of 50 percent of the revelation of this disease in children.

The majority (67%) cases of TSC are sporadic cases, where the mutation is not inherited from parents but occurs spontaneously during the process of germ cells (sperm / ovum) or during the process of embryonic development.

Only 33 percent of the familial cases, where one parent carries the mutation. In familial cases, uniquely many families with TSC showed variability in the severity of symptoms in one family with the same mutation.

Usually the child showed very severe symptoms, while one parent is almost no symptoms, while the same mutation occurred. The cause of this phenomenon remains a mystery.

All TSC patients showed symptoms and signs caused by the growth of benign tumors called a hamartoma. Although called ‘benign’, its consequences can be deadly, depending on the location of growth.

The term ‘benign’ is used because it showed no signs of spread to other body parts, although its size can be enlarged locally. Similarly, signs and symptoms that occur depend on the location of the organ or tissue where the tumor is growing.

1. Patients with tumors in the brain (photo 1) usually show signs of epilepsy or retardation and Menta.

2. Patients with tumors of the skin of the face (Photo 2 – referred to as facial angiofibroma) showed signs such as severe acne

3. While many patients with connective tissue tumors only in the nail folds do not show any symptoms other than just a small lesion on one side of the nails (Photo 3 – called periungual fibroma).

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