Proteus syndrome

Case contributed by Dr Nick Tarasov

Presentation

Unstoppable enlargement of the left side of the face since childhood. Difficult painful chewing. MRI was performed to exclude pituitary anomalities.

Patient Data

Age: 25 years
Gender: Male
MRI

Left sided facial and anterior calvarial bones overgrowth, multiple exostoses and soft tissue thickening. 

Sellar, septochiasmal, craniovertebral areas seem normal.

Case Discussion

This patient attended many different specialists for many years, but unfortunately a certain diagnosis was not revealed.

Proteus syndrome is a very rare condition with a prevalence less than 1/1,000,000. This is a possible reason why sometimes it can be difficult to differentiate endocrine and genetic pathologies with certainty.

PlayAdd to Share

Case information

rID: 51119
Case created: 4th Feb 2017
Last edited: 6th Feb 2017
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.