10-year-old patient with previous known polyostotic fibrous dysplasia.
Multiple limb X-rays (Fig. 1-3) demonstrate the typical findings of polyostic fibrous dysplasia:
Expansion bone with typical "ground glass" (visualised in femur, tibia, radius and distal part of humerus) with slight bone deformity more appreciated on the tibia and femur.
Cortical thickening (metacarpals and phalanges - Fig. 4) and radiolucent medulla
In X-ray and CT enlargement of facial bones with increased density (Fig. 5-7) can contribute to aesthetic changes and eventually the development of what some authors call lion face ("leontiasis faciei")
These changes are best demonstrated with three-dimensional CT images. (see Fig. 7 and 8)
Fibrous dysplasia of bone is a genetic, non-inheritable disease, the normal bone and bone marrow is replaced with abnormal benign intramedullary fibro-osseous tissue, and can involve any bone in the body [1]
It can present in a monostotic or polyostotic form. Primarily affecting adolescents and young adults, it accounts for 7% of benign bone tumours [2]
Many of the asymptomatic lesions are found incidentally; the remainder present with symptoms of swelling, deformity, or pain [2].
The bone lesions may be associated with endocrine dysfunctions and café-au-lait spots, which is known as McCune-Albright syndrome. [3] Some complications, such as nerve compression and malignant transformation, are uncommon. [4]
The craniofacial involvement can pose a very difficult therapeutic problem due to localisation and uncontrolled proliferation followed by compression, both resulting in facial asymmetry, pain, cranial nerve deficiencies, alterations in hearing and loss of vision. [5]
Radiographic features of fibrous dysplasia of the skull and facial bones are described as three patterns: [6]
The pagetoid, or ground-glass, pattern is most common and consists of a mixture of dense and radiolucent areas of fibrosis. It also can be constituted by sclerotic homogeneous lesions whereas the cystic variety is characterised by a spherical or ovoid lucency surrounded by a dense bony shell. [6]
The most common appearance of fibrous dysplasia on CT is an expanded bone showing a ground-glass appearance and is usually straightforward [7]
MRI is not particularly useful in differentiating fibrous dysplasia from other entities as there is marked variability in the appearance of the bone lesions, and they can often resemble tumour or more aggressive lesions [7].
The MRI characteristics show signal intensity that is intermediate to low on T1-weighted images, intermediate to high on T2-weighted images, and shows heterogeneous enhancement after administration of gadolinium [8].
Diagnosis of fibrous dysplasia is important to recognise especially in the facial skeleton because of the possible unfavourable influence of the disease on stomatognathic system, laryngological disease, ophthalmic and neurological disease. [9]
Polyostotic fibrous dysplasia with facial bones involvement
Based on the provided X-ray and CT scans from multiple sites, the key observations are as follows:
Based on the imaging findings and the patient’s previously confirmed history of polyostotic fibrous dysplasia, possible diagnoses or differential diagnoses include:
Considering the patient is 10 years old, female, with a known history of “polyostotic fibrous dysplasia,” as well as the current imaging findings of multiple “ground-glass” lesions and bone expansion/deformity, the most likely diagnosis is:
Polyostotic Fibrous Dysplasia.
If there is any clinical concern about a malignant process or the activity level of the lesions, follow-up imaging or a biopsy may be performed to confirm the pathology.
Treatment for polyostotic fibrous dysplasia should be tailored according to the extent of the lesions, severity of symptoms, and degree of functional impairment.
Rehabilitation/Exercise Prescription Suggestions (FITT-VP Principle)
Throughout this process, regular follow-up with orthopedic, rehabilitation, and pediatric specialists is crucial. If pain, worsening deformity, or neurological symptoms occur, prompt medical evaluation is advised.
Disclaimer: This report is generated by an intelligent system based on the current imaging and medical history, and is for reference only. It does not replace in-person consultation or professional medical advice. For further inquiries, please consult a qualified healthcare professional.
Polyostotic fibrous dysplasia with facial bones involvement
