The Proteus syndrome is a very rare condition. The disease is characterized by excessive growth or malformations of different types of tissues. The symptoms vary so much from person to person, that one speaks of a complex of phenomena. This variety of features complicates diagnosis.

Only in 1998 the National Institutes of Health in the United States held a symposium to develop guidelines for the diagnosis and monitoring of the syndrome. Because of the variety of symptoms called HR Weidemann, a German pediatrician, the disorder in 1983 the Proteus syndrome, the Greek god Proteus, who could assume many guises.

The Proteus syndrome has a genetic cause. The syndrome is extremely rare. It is done much more to learn about the syndrome and to address the diagnostic confusion that exists by the different phenomena. Heredity plays a complex role.

We suspect that the latent genetic predisposition for generations in a family may be present. This construction would only reveal if additional gene mutations occur. This unpredictability has led to many patients wrongly diagnosed Proteus syndrome was made. Diagnosis of the syndrome in the unborn fetus is not possible.

The symptoms are so different and the syndrome is so rare, the diagnosis is usually made only after the patient is examined by several doctors. These general criteria for diagnosis include the complex of symptoms and the fact that they get worse.

Also, the symptoms “occasionally” occur, that is, they follow no pattern, not in a family or in an area more frequently. Moreover, the diagnosis is based on symptoms.

The malformations in the face because of the Proteus syndrome can be very disfiguring. In general, all major organs like the lungs, the organs in the abdomen and nervous system are examined. It is wise to evaluate the symptoms by a specialist in heredity, and to do a chromosome study. This applies to the whole family. Because of the increased risk of cancer, the patient must always remain under control.