Proteus syndrome

Case contributed by Dr Nick Tarasov


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

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.

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Case information

rID: 51119
Published: 4th Feb 2017
Last edited: 16th Jul 2018
Inclusion in quiz mode: Included

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