Bony swelling on the head.
The patient presented with a slowly enlarging bony swelling on the head, present for many years. There was no pain or neurological symptoms.
Fibrous dysplasia, also known as Jaffe-Lichtenstein disease, is a developmental anomaly of the skeleton of unknown cause. It occurs in monostotic and polyostotic forms, seen in 70-80% and 20-30% of cases respectively. Of these 2-3% are associated with endocrinopathies, typically the McCune-Albright syndrome. The skull and facial bones are affected in 10-25% of monostotic cases and 50% of polyostotic cases. The common sites are the frontal, sphenoid, maxillary and ethmoid bones, with the temporal and occipital being less common. The lesions are usually asymptomatic but may present with deformity or neurological complications, such as optic nerve compression.
On plain radiographs there may be single or multiple lesions, which are predominantly sclerotic but may be lucent. When expansion occurs it tends to be outwards with bulging of the outer skull table, which remains intact. Computed tomography is useful to show the extent of bone involvement, as well as the extracortical involvement. The main differential diagnosis is Paget's disease where the features of facial bone involvement and prominence of the external occipital protruberance are less common and the skull tables may be destroyed. Hypervascularity of fibrous dysplasia of the skull is an unusual association which may present with recurrent haemorrhage.
Fibrous dysplasia
Based on the imaging provided by the patient (cranial X-ray and CT), the following features can be observed:
• Localized thickening of the skull, mainly involving the left side (or corresponding region), showing relatively uniform dense or sclerotic changes;
• The outer table of the skull frequently exhibits outward bulging; however, its continuity remains visible, with no obvious signs of destruction;
• On CT images, the bone in the lesion area presents a “ground-glass” or sclerotic appearance, and the distinction between cortical and cancellous bone in the medullary cavity is not particularly clear;
• No significant soft tissue mass or intracranial parenchymal involvement is observed, although the localized bone expansion is pronounced, warranting vigilance for possible neural canal compression.
Combining the patient's age, clinical history, and imaging findings, the following diagnoses or differential diagnoses are considered:
In summary, fibrous dysplasia and Paget’s disease are common differential diagnoses for skull thickening and expansion. Given the localized lesion and the relatively intact outer table in this case, Paget’s disease is less likely.
Taking into account the patient’s age (26-year-old male), symptoms (bony palpable mass on the head), imaging characteristics (localized expansion, noticeable “ground-glass” sclerotic area, preservation of the outer table), and the typical predilection for craniofacial involvement in fibrous dysplasia, the most likely diagnosis in this case is:
Fibrous Dysplasia (Fibrous Dysplasia).
If clinical uncertainty persists, further imaging follow-up (to observe progression) or, when appropriate, a histopathological biopsy may be considered to confirm the diagnosis.
• Observation and Follow-up: For patients with mild symptoms or no significant functional impairment, regular follow-up can be considered to assess changes in lesion size, shape, and any signs of neural compression.
• Surgical Treatment: If the lesion causes a notable cosmetic deformity, affects the optic canal or other cranial nerve pathways, or creates psychological distress, surgical intervention (such as lesion curettage/decompression, reconstructive repair) can be considered.
• Medication: Currently, there is no specific medication that can reverse fibrous dysplasia. However, for patients experiencing worsening bone pain or significant bone destruction, bisphosphonates may be used to alleviate symptoms under the guidance of a specialist.
Because fibrous dysplasia can weaken the affected bone, exercise should be introduced progressively with appropriate safety measures. According to the FITT-VP principle (Frequency, Intensity, Time, Type, Progression, Individualization), the following suggestions are made:
During all activities, avoid impacts or external pressure to the head and facial region, preventing uneven bone stress that may lead to occult fractures or nerve compression. In case of severe headache, localized tenderness, or worsening neurological symptoms, seek medical attention promptly.
This report is based on the patient’s provided medical history and imaging data for analysis and is intended solely as a reference for medical information. It does not substitute for an in-person consultation or professional medical advice. If you have any questions or develop new clinical symptoms, please promptly consult a specialist for further evaluation.
Fibrous dysplasia