Proteus-like Syndrome

What is Proteus-like syndrome?

Proteus-like syndrome is a part of the PTEN hamartoma tumor syndrome spectrum of disorders, which you can learn about here. Proteus-like syndrome is the name given to patients who have many of the signs and symptoms of Proteus syndrome, but do not meet its diagnostic criteria. Proteus syndrome is a condition characterized by overgrowth of the bones, skin, and other tissues. Until fairly recently, Proteus syndrome was considered to fall in the PTEN hamartoma tumor syndrome (PHTS) spectrum of disorders. However, it is no longer considered so because researchers have discovered that the mutation causing 90% of Proteus syndrome cases was the in the AKT1 gene, whereas to be a part of the PHTS spectrum, the disease has to be caused by a mutation in the PTEN gene. Still, about half of Proteus-like syndrome cases are caused by mutations in the PTEN gene.

What are the symptoms of Proteus-like syndrome?

Affected people will have some of these features:

Macrocephaly, or a larger than normal head size
Overgrowth of the bones, skin, and tissues
Hamartomas, which are noncancerous tumors growing on various parts of the body
Abnormalities in the skin, blood vessels, and fat
Distinctive facial features
Intellectual disability
Vascular malformations

What causes Proteus-like syndrome?

About 50% of Proteus-like syndrome cases are caused by mutations in the PTEN gene, a gene that works to suppress tumors. Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. When the PTEN gene mutates it can’t carry out its functions, which allows the development of symptoms. To learn more about the PTEN gene and its mutations, click here.

How is Proteus-like syndrome diagnosed?

Proteus-like syndrome is diagnosed using the following procedures:

The presence of characteristic symptoms
Genetic testing for PTEN gene mutations

What are the treatments for Proteus-like syndrome?

Treatment includes:

Treatment that targets the specific symptoms present
Consistent cancer screenings
Genetic counseling

Where can I find out more about Proteus-like syndrome?