Craniofacial Polyostotic Fibrous Dysplasia Initially Diagnosed in a Primary Care Unit

Antonio Miguel Cruz-Ferreira1,2

  • 1Mealhada Primary Health Care Unit, Mealhada, Portugal.

Insights

Polyostotic fibrous dysplasia (PFD) is a rare, benign bone tumor presenting with symptoms like headache and facial deformity. This case highlights the importance of recognizing PFD in primary care for timely diagnosis and management.

Area of Science:

  • Oncology
  • Radiology
  • Endocrinology

Background:

  • Fibrous dysplasia (FD) is a rare, non-malignant bone disorder characterized by abnormal bone development.
  • Polyostotic fibrous dysplasia (PFD) affects multiple bones and can present with varied symptoms depending on the affected sites.
  • Early recognition is crucial for appropriate management and patient outcomes.

Purpose of the Study:

  • To report a case of polyostotic fibrous dysplasia (PFD) presenting with headache and facial deformity.
  • To increase awareness among family physicians regarding the diagnostic challenges of PFD.
  • To emphasize the importance of multidisciplinary evaluation for rare bone tumors.

Main Methods:

  • Case report of a 29-year-old female patient with PFD.
  • Diagnostic workup included X-ray, computed tomography (CT), and bone scintigraphy.
  • Clinical assessment involved neurosurgery and otorhinolaryngology consultations.

Main Results:

  • The patient presented with headache, nasal congestion, hyposmia, facial deformity, and orbital swelling.
  • Imaging confirmed a tumor involving the ethmoid and frontal bone, consistent with PFD.
  • A conservative 'watchful waiting' approach with regular monitoring was implemented.

Conclusions:

  • PFD is a rare, benign condition that requires increased physician awareness for prompt diagnosis.
  • Management strategies for PFD are individualized, ranging from observation to surgical intervention.
  • This case underscores the need for vigilance in primary care for potentially complex conditions like PFD.

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