Case

 Female

 Age: 64

 ID: 2010039860

 Presentation: upper thigh and groin pain 1 month

 Fibrous dysplasia
Fibrous dysplasia

Bùi Thị Thúy Vy NT46

Overview

 Fibrous dysplasia is a typically benign bone lesion characterized by

intramedullary fibro-osseous proliferation secondary to altered
osteogenesis.
 First introduced by Lichtenstein and Jaffe in 1942 and originally termed
Jaffe-Lichtenstein syndrome
 Malignant transformation is rare, and remote radiation therapy has been
reported as a risk factor.
Overview

 Fibrous dysplasia can occur in monostotic form (single bone) or polyostotic

form (multiple bones)

 Monostotic FD (80%) is often an asymptomatic clinical. Adult presentation

often occurs incidentally during imaging for an unrelated indication.

 The polyostotic form (20%) often presents in childhood. McCune-Albright

syndrome is a relatively rare condition featuring polyostotic fibrous
dysplasia (often unilateral) with skin pigmentation lesions and endocrine
dysfunction (often female precocious puberty).
Epidemiology

 Incidence has been estimated at 1 in 5,000 to 10,000.

 FD constitutes 5% of all benign bone lesions.

 Most commonly fibrous dysplasia is first diagnosed in children or young

adults.

 linked with a missense mutation in the GNAS1 gene on chromosome 20

Pathology
Location

 ribs: 28%, most common

 proximal femur: 23%

 tibia

 craniofacial bones: 10-25%

 humerus
Clinical presentation

 The condition is often an incidental finding and is usually painless

 Pain : - bony expansion and remodeling

- pathologic fracture
- compression and displacement of adjacent structures
(in craniofacial fibrous dysplasia, where the content of the orbit or cranial
nerves may be compressed resulting in loss of vision or hearing loss )
 Malignant transformation is rare, it does occur in less than 1% of cases
 Age: 13 years Presentation
Gender: Male Recurrent left groin pain

Radiographic features

• Intramedullary, expansile lesion

• Ground-glass matrix

• Well-defined borders

• Maintenance of a smooth cortical

contour

• No periosteal reaction
 Age: 19 Gender: Male
Presentation
Teenager attends ENT with left retro-auricular
Radiographic features pain, mild fever and a facial palsy on examination.

 ground-glass opacities: 56%

 homogeneously sclerotic: 23%

 cystic: 21%

 well-defined borders

 expansion of the bone, with intact overlying bone

 The attenuation of lesions usually ranges from 60

to 140 HU and they usually enhance after the
application of contrast media
Radiographic features

'rind sign'
Radiographic features
Concerning features suggestive of
malignant matrix formation
• pathologic fracture

• cortical destruction

• aggressive periosteal reaction

• surrounding bone marrow

edema
• solid mass-like enhancement

• soft tissue extension

T1 T1 C+ T2
 Diagnosis

 The diagnosis of fibrous dysplasia is mainly based on clinical and typical

radiographic features and if the imaging features are characteristic the
lesion does not require histology

 Histological confirmation is indicated in cases with atypical imaging

appearance or in isolated monostotic lesions with clinical symptoms or
other concerning features
Differential Diagnosis

Paget disease of the femur FD - SBC

Treatment

 Treatment is not required in asymptomatic cases

 Patients in this category can be followed periodically with assessment for new symptoms
and radiographs.

 Adult medication therapy with bisphosphonates can alleviate bone pain and disease-
associated osteoporosis.

 Surgical management includes internal fixation following pathologic fractures

 Surgery may involve bone lesion curettage, bone grafting, can play an important role in
alleviating nerve compression symptoms
Take-home messages

 Age + Location + Radiographic features

 Clinical and typical radiographic features

- Xray, CT: expansile lesion, Ground-glass matrix, Well-defined borders, Rind sign

 MRI, Histological confirmation is indicated in cases with atypical imaging appearance or

in isolated monostotic lesions with clinical symptoms

-> Treatment: follow up/ bisphosphonates/ Surgical

References

 https://www.ncbi.nlm.nih.gov/books/NBK532947/

 https://radiopaedia.org/articles/fibrous-dysplasia

 https://www.pathologyoutlines.com/topic/bonefibrousdysplasia.html