Proteus syndrome - Proteus syndrome causes, symptoms, diagnosis & treatment

The legs may become painful and swollen and blood vessels in the legs may be visibly enlarged.

The gene alteration is uncommonly present in the blood and therefore DNA diagnostic testing must generally be performed on biopsies of affected tissues.

Older children and teens can find connecting with other children with similar concerns to be very helpful, and many children with chronic illnesses say that sharing their thoughts about their condition with another young person their age makes them feel less alone and more understood.

American pathologist described it in 1979.

In: Adam MP, Ardinger HH, Pagon RA, et al.

Description: Patients with Proteus syndrome can have regular bone configuration and contours despite the bone enlargement.

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In some patients, affected individuals may exhibit only a few, mild symptoms of Proteus syndrome, making diagnosis challenging.
Confirming a diagnosis of Proteus syndrome can be difficult and the interpretation of the clinical diagnostic criteria is controversial.

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