Proteus syndrome

The Proteus syndrome is a congenital disorder in which manifests itself in early childhood, a regional overgrowth. Often, tumors develop.

The Proteus syndrome has a varied clinical presentation. Therefore, it was named by the German pediatrician Hans -Rudolf Wiedemann after the Greek sea god Proteus, of which it is said that he can change his outward form.

Since the initial description of the syndrome by Michael Cohen in 1979, about 200 cases have been reported worldwide. Based on current knowledge, the diagnosis is justified only in nearly half of these cases - that is, the Proteus syndrome seems to be even rarer than previously suspected. Since attenuated forms of the disease may occur, it is likely that many cases of Proteus syndrome are not diagnosed as such.

Notable cases

Joseph Merrick suffered from Proteus syndrome, probably combined with neurofibromatosis type 1 ( M. Recklinghausen) and became known as the Elephant Man.

Only his left arm and genitals were without infestation.

Clinical features

The Proteus syndrome causes an overgrowth of skin, bones, muscles, fat, blood and lymph vessels. At birth, the victims are usually no obvious changes.

With age, it can be used to described tall stature and come to tumor formation. The severity and location of the infestation varies extremely, but often the skull, one or more extremities, and the soles of the feet are affected. Life expectancy is reduced in those affected by the increased incidence of deep vein thrombosis and pulmonary embolism, which are favored by disease-associated vascular malformations. Due to the increased weight of the deformed extremities, it also comes to muscle and joint pain. Other risks may occur due to the mass of tissue growth - as in the case of Joseph Merrick, who suffocated in his sleep when his cervical spine buckled by the weight of the head.

The disease itself does not cause mental retardation or learning disability. The overgrowth can cause but secondary damage to the nervous system, which lead to cognitive impairment. In addition, visible deformations affect the social experience of the patients negative, which can bring cognitive and social deficits.

Those affected are at increased risk for the development of certain tumors such as unilateral ovarian cystadenomas, testicular tumors, meningiomas and adenomas of the salivary gland.

Causes - Genetics

Research on the exact cause of Proteus syndrome are ongoing. Some research shows a connection to the PTEN gene on chromosome 10, other results point to chromosome 16 Some scholars have questioned the involvement of PTEN account.

Also a somatic mutation as the cause is the subject of scientific debate.

2011 had a study in 26 of 29 patients examined by a point mutation in the AKT1 gene. The mutation results in a genetic mosaic, which leads to overgrowth of the affected body parts.

Treatment

Currently there is no treatment. An Australian team of doctors has been investigated as a potential therapeutic agent in a case report rapamycin and found a positive effect on the progression of the disease.

See also

• Klippel Trenaunay - Weber syndrome

Documents

Weblink

Proteus syndrome in Online Mendelian Inheritance in Man

• Genetic disorder