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
From the case:
Proteus syndrome
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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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