Table 2 Suggested follow-up imaging for patients with fibrous dysplasia, McCune-Albright syndrome and Mazabraud syndrome (an expert opinion, based on the NIH cohort)
From: Fibrous dysplasia for radiologists: beyond ground glass bone matrix
Involvement | Organs involved | Frequency of involvementa | Clinical problem | Suggested radiological follow-up |
|---|---|---|---|---|
Bone lesions | All lesions | 100% | Fractures, benign and malignant matrix transformation | Initial bone scan to assess the extension of disease. CT of the affected area/bones to evaluate changes in pain, rapid enlargement, local changes. |
Craniofacial bones | 80% | Vision/Hearing | Head CT at baseline. Repeat periodically in childhood to monitor progression. Repeat as needed for symptomatic lesions in adulthood. | |
Femur | 91% | Deformities | Measure neck-shaft angle to identify progressive femoral neck deformation on X-ray. | |
Axial skeleton | 63% | Scoliosis | Closely monitor for scoliosis on X-ray; surgical fixation if Cobb angle > 50 degrees. | |
Extra-skeletal | Thyroid | 66% | Hyperthyroidism (38%), autoimmune thyroiditis, thyroid cancer (1.3%) | Thyroid ultrasound at baseline and periodically to follow abnormalities. |
Pituitary | 10–15% | Adenoma, hyperplasia without adenoma | MRI brain at baseline for patients with abnormal pituitary function. | |
Testicles | 85% | Macroorchidism, Leydig or Sertoli cell hyperplasia, testicular germ cell tumour | Testicular ultrasound at baseline and periodically to follow abnormalities. | |
Ovaries | 85% | Autonomous ovarian cysts | Pelvic US if breast development, vaginal bleeding or signs of estrogenisation below age 6–7 years. | |
GI tract | 32% | Pancreatic IPMN | MRI of abdomen with MRCP follow-up in 6–12 months if IPMNs 10–20 mm; 6 months follow-up if > 20 mm or demonstrates suspicious features | |
Intramuscular myxomas in Mazabraud syndrome | 100% | Asymptomatic | No follow-up |