"Only 107 cases have been reported in the global literature (as of 2019) 1,3-5,15. The prevalence is ~ 1 in 1,000,000 3 with a strong female predilection (68-84%) 1,3. The age at diagnosis ranges from 35-60 years with a mean age of approximately 40 years 1,3. Childhood-onset has been reported in four cases 3."
"The most common complication of myxomatous surgical excision is recurrence which occurs in ~ 30% of cases at a median of 8.5 years (range: 2-16 years) 1. Highly cellular lesions have higher recurrence rates however size, increased number and younger age at diagnosis are not significantly associated with recurrence 1."
"There is a strong link with post-zygotic mutations of the GNAS1 gene located on chromosome 20q13.2-q13.3, which encodes the alpha subunit of G-protein (GSa) involved in cell proliferation 1-3. When this occurs, bone is replaced and distorted by poorly organised, structurally unsound, fibrous tissue 2. This mutation affects the mesenchymal precursor cells at the early stages of commitment 3. This may account for the wide range of clinical patterns with earlier mutations proving a more complex clinical phenotype and partly explaining why patients clinically vary from asymptomatic to painful forms with fractures and deformities 3."
"Technetium 99m-methyldiphosphonate can be used to detect disease extent in the young 2. Rapid increase in 18-FDG uptake may suggest the possibility of sarcomatous change 2. Fibrous dysplasia lesions are found positive on In-111 pentriotide (OctreoScan), Ga-67 citrate and Tc-99m MIBI scintigraphy as well as 68-Ga-DOTATATE and 11-c choline PET-CT."
"Only 107 cases have been reported in the global literature (as of 2019) 1,3-5,15. The prevalence is ~ 1 in 1,000,000 3 with a strong female predilection (68-84%) 1,3. The age at diagnosis ranges from 35-60 years with a mean age of approximately 40 years 1,3. Childhood-onset has been reported in four cases 3."
"CT is a superior modality to plain radiographs 2. Osseous expansion with ground glass appearance usually attenuates at from 60-140 HU 2. Intramuscular myxomas appear as well-demarcated hypodense ovoid lesions close to areas of fibrous dysplasia and usually show mild diffuse enhancement or peripheral and septal enhancement seen in approximately 50% of cases 9."
"There is a strong link with post-zygotic mutations of the GNAS1 gene located on chromosome 20q13.2-q13.3, which encodes the alpha subunit of G-protein (GSa) involved in cell proliferation 1-3. When this occurs, bone is replaced and distorted by poorly organised, structurally unsound, fibrous tissue 2. This mutation affects the mesenchymal precursor cells at the early stages of commitment 3. This may account for the wide range of clinical patterns with earlier mutations proving a more complex clinical phenotype and partly explaining why patients clinically vary from asymptomatic to painful forms with fractures and deformities 3."
Expected headings
"Associations"
"Complications"
"There is a highly variable clinical presentation. Patients may be asymptomatic, may describe painless mass(es), or may describe painful mass(es), deformities, and/or pathological fractures 1,2."
"There is a strong link with post-zygotic mutations of the GNAS1 gene located on chromosome 20q13.2-q13.3, which encodes the alpha subunit of G-protein (GSa) involved in cell proliferation 1-3. When this occurs, bone is replaced and distorted by poorly organised, structurally unsound, fibrous tissue 2. This mutation affects the mesenchymal precursor cells at the early stages of commitment 3. This may account for the wide range of clinical patterns with earlier mutations proving a more complex clinical phenotype and partly explaining why patients clinically vary from asymptomatic to painful forms with fractures and deformities 3."
"McCune-Albright syndrome: café-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goitre and breast fibroadenomatosis 8"
"Active lesions show post-contrast enhancement which may be patchy central, rim, homogeneous or a combination 2. Diffusion-weighted imaging may help in differentiating benign from malignant lesions and ADC values particularly in the skull lesions correlate with cell density and may narrow differential diagnosis 2."
"History and etymology"