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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.
Abstract:
Fibrous dysplasia (FD) is a non-malignant bone tumor that typically behaves as a slow and indolent growing mass lesion. We report the case of a female patient presenting with headache and facial deformity and later diagnosed with polyostotic fibrous dysplasia (PFD). A 29-year-old woman visited Mealhada Primary Health Care Unit complaining of headache, nasal congestion, and hyposmia for several weeks. She also presented with facial deformity and painful swelling of the upper left orbit. X-ray imaging revealed a suspicious opacity in the left frontal sinus and a right shift of the nasal septum. Computed tomography and bone scintigraphy later confirmed a tumor involving the ethmoid and frontal bone. The patient was referred to the neurosurgery and otorhinolaryngology departments of a central hospital and the suspected diagnosis of PFD was confirmed. A watchful waiting approach with regular imaging screenings was proposed and accepted by the patient, who is now free of symptoms and more acceptant of the benign condition of her tumor. With this case, we aim to make family physicians more aware of this rare but relevant condition that can be difficult to diagnose. FD is a rare but benign tumor that occurs mainly in adolescents and young adults. Symptoms depend on the location and type of the tumor and include facial deformity, vision changes, nasal congestion, and headache. No clear guidelines exist for its treatment, and options include monitoring the progression of the tumor, in addition to medical or surgical approaches.
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