Sinonasal Disease in Polyostotic Fibrous Dysplasia and McCune–Albright Syndrome

Abstract

Objectives To characterize the spectrum, symptoms, progression and effects of endocrine dysfunction on sinonasal disease in polyostotic fibrous dysplasia (PFD) and McCune-Albright Syndrome (MAS). Study Design Retrospective review. Methods A prospectively followed cohort of subjects with PFD/MAS underwent a comprehensive evaluation that included otolaryngologic and endocrine evaluation, and imaging studies. Head and facial CT scans were analyzed, and the degree of fibrous dysplasia (FD) was graded using a modified Lund-MacKay scale. Those followed for more than 4 years were analyzed for progression. Results A total of 106 patients meeting inclusion criteria were identified with craniofacial FD. A majority (92%) demonstrated sinonasal involvement. There were significant positive correlations between the sinonasal FD scale score and chronic congestion, hyposmia, growth hormone excess and hyperthyroidism (p < 0.05 for all). Significant correlations were not found for headache/facial pain or recurrent/chronic sinusitis. Thirty-one subjects met the criteria for longitudinal analysis (follow-up mean 6.3 years, range 4.4 – 9 years). Those demonstrating disease progression were significantly younger than those who did not (mean age = 11 vs. 25 years). Progression after age of 13 years was uncommon (n=3) and minimal. Concomitant endocrinopathy or bisphosphonate use did not have any significant effect on progression of disease. Conclusion Sinonasal involvement of fibrous dysplasia in PFD/MAS is common. Symptoms are usually few and mild, and disease progression occurs primarily in young subjects. Concomitant endocrinopathy is associated with disease severity, but not progression.

Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone

“…Since then, a number of publications reported variable beneficial effects of different bisphosphonates on pain, bone turnover markers and radiological features of FD/MAS lesions largely in adults and children with polyostotic FD/MAS. These publications include 18 case reports , 20 observational case series and a single randomized controlled study (RCT) using oral alendronate .…”

“…Six of these case series included MAS patients, and one study included 106 patients with sinonasal CFD largely as part of polyostotic FD/MAS . In these case series, indication of treatment with bisphosphonates was based on pain, ( n = 13/20), , increased bone turnover markers (BTMs), ( n = 9/20), , or a combination of both ( n = 8/20). Several publications have reported a decrease in bone pain associated with a decrease in bone turnover with the use of intravenous pamidronate .…”

“…Symptoms of pain were not always a prerequisite for starting treatment with a bisphosphonate, in some studies this was based on the presence of increased bone turnover markers. Notwithstanding, the only two studies evaluating pain did not demonstrate it to be affected beneficially by bisphosphonates: the RCT using alendronate in children and adults with polyostotic FD/MAS compared to placebo and the open study using bisphosphonates (type not reported) in patients with craniofacial disease as part of polyostotic FD/MAS .…”

Endoscopic Endonasal Optic Nerve Decompression for Fibrous Dysplasia

“…Involvement of the craniofacial bones is common and affects 50 to 100% of individuals with the polyostotic form. 5 Disease progression after adolescence is rare and typically minor, 6 though clinical deterioration has been reported later in life. 1 Pathologic involvement of the orbit and optic canal has potential to cause compressive optic neuropathy with subsequent decline in visual acuity and visual field (VF) deficits.…”

Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study

“…Other complications associated with MCA syndrome include the following: hyperthyroidism, hyperadrenalism and pituitary adenoma producing growth hormones and prolactin [ 10 , 11 ].…”