By Marcello Cherchi, MD PhD
For patients
Fibrous dysplasia (FD) is a bone problem. When FD affects the skull bones, it can cause hearing loss and (less commonly) disequilibrium. If your doctor thinks you might have FD, then they may check a CT scan and tests of the inner ear, and have you see an ENT surgeon.
For clinicians
Overview
Fibrous dysplasia (FD) is a disorder of bone metabolism in which abnormally functioning osteoblasts produce maturational misdifferentiation of bony mesenchyme resulting in abnormal bone architecture. FD usually presents in the first or second decades, though sometimes as late as the sixth decade. FD can affect any bone, and can involve one site or multiple sites. About 12% – 18% of cases involve the temporal bone, and thus can cause audiologic symptoms; vestibular symptoms are rare. About 29% of temporal bone FD patients experience hearing loss; the majority of these have conductive hearing loss associated with external auditory canal stenosis; but some cases of sensorineural hearing loss have been reported. FD is usually diagnosed and monitored by CT imaging, though MRI may provide complementary information. FD often, though not always, stabilizes after adolescence, so surgical intervention, even if contemplated, is often postponed until then. A patient diagnosed with temporal bone FD should be managed by an otolaryngologist.
Introduction
Fibrous dysplasia (FD) is sometimes also called fibro-osseous dysplasia. According to Adetayo and colleagues (Adetayo et al. 2015), FD was first described by Friedrich Daniel von Recklinghausen (1833 – 1910) in 1891 (von Recklinghausen 1891) but named “fibrous dysplasia” by Louis Lichtenstein (1906 – 1977) in 1938 (Lichtenstein 1938).
Epidemiology
Some studies state that FD becomes symptomatic in the first and second decades (Chinski, Beider, Cohen 1999; Mallina et al. 2007), while others say that the mean age at diagnosis is 25 years (Frisch et al. 2015). It can present as late as the fifth (Mallina et al. 2007) or sixth (Pineker et al. 2017) decades.
Of all FD patients, 59% are female; 11% have monostotic forms and 89% have polyostotic forms (Frisch et al. 2015). Of FD patients specifically with craniofacial involvement, up to 56% are monostotic and up to 47% are polyostotic (Yang et al. 2017). Studies provide discrepant sex ratios, such as a female preponderance of 59% (Frisch et al. 2015) to a male-to-female preponderance of 2:1 (Mallina et al. 2007).
Fibrous dysplasia affects the temporal bone in 12% (Yang et al. 2017) to 18% of cases (Chinski, Beider, Cohen 1999), and of those, 80% involve the external auditory canal (Chinski, Beider, Cohen 1999).
Rare cases of FD following surgery have been reported (Pardo-Maza et al. 2015).
Genetics
Most cases of FD appear to occur sporadically.
Of cases occurring in familial patterns, the inheritance seems to be autosomal dominant with incomplete penetrance. Several genetic loci have been implicated (Albagha et al. 2010; Albagha et al. 2011; Beauregard et al. 2014; Chung et al. 2010; Usategui-Martin et al. 2015).
Pathophysiological mechanism of disease
Fibrous dysplasia is a disorder in which abnormally functioning osteoblasts (Tambe et al. 2022) produce maturational misdifferentiation of bony mesenchyme (Nager, Kennedy, Kopstein 1982) resulting in abnormal bone architecture (Neromyliotis et al. 2019).
Clinical presentation
Hearing loss occurs in 29% of temporal bone FD patients (Frisch et al. 2015).
Symptoms of disequilibrium are rarely reported in association with temporal bone FD (Mallina et al. 2007).
Physical examination
Depending on the degree of skull involvement, FD patients may exhibit a variety of facial deformities.
Ocular motor examination
As of this writing there were no published studies on ocular motor examination in FD patients.
Testing: auditory
In the majority of cases audiometry will show conductive hearing loss (Donnelly, McShane, Burns 1994; Kessler, Wolf, Ben-Shoshan 1990; Liu and Chang 2016; Megerian et al. 1995; Mohammed, Jang, Moon 2022; Morrissey, Talbot, Schleuning 1997; Pouwels and Cremers 1988; Schrimpf et al. 1982; Yang et al. 2012; Yu Hon Wan and Chi Fai Tong 2008) and associated with external auditory canal stenosis (Chinski, Beider, Cohen 1999; Mohammed, Jang, Moon 2022; Morrissey, Talbot, Schleuning 1997; Nager, Kennedy, Kopstein 1982; Pouwels and Cremers 1988; Schrimpf et al. 1982; Smouha, Edelstein, Parisier 1987; Talmi et al. 1989), but sensorineural hearing loss has also been reported in up to 17% of patients (Megerian et al. 1995; Morrissey, Talbot, Schleuning 1997).
Testing: vestibular
As of this writing there was almost no literature regarding vestibular testing in patients with temporal bone FD (Brookler 2004). In our view the main role of otovestibular testing is to assess for whether an FD patient complaining of disequilibrium may have co-occurrence of a more common (and possibly treatable) vestibular disorder.
Imaging
CT is the imaging modality of choice for diagnosing, characterizing, and monitoring FD (Kiroğlu et al. 2005; Lambert and Brackmann 1984). MRI may also provide helpful information (Casselman et al. 1993).
Differential diagnosis
FD can co-occur with other diseases such as:
- Cholesteatoma (Djerić and Stefanović 1999; Martinez and Farrior 2008; Pouwels and Cremers 1988; Smouha, Edelstein, Parisier 1987; Tochino, Sunami, Yamane 2004; Yagoda and Selesnick 1994; Zanetti and Gamba 2007). Reported rates vary from 3% (Frisch et al. 2015) to as much as 40% of cases (Megerian et al. 1995).
- Aneurysmal bone cyst (Blanchard et al. 2011)
- Posterior semicircular canal dehiscence (McCall, Curtin, McKenna 2010)
- Labyrinthine fistula (Blanchard et al. 2011)
- Ménière’s disease (Weiss et al. 2023)
- Paget’s disease of bone (Hullar and Lustig 2003)
FD can mimic other diseases, such as:
- Primary malignancy (Papadakis et al. 2017)
- Metastatic disease (Song et al. 2021)
- Endolymphatic sac tumor (Rawlins et al. 2020)
- Osteoma (Kessler, Wolf, Ben-Shoshan 1990)
- Osteochondroma (Tambe et al. 2022)
FD can also be mimicked by other diseases, such as a meningioma (Mingo et al. 2016).
Treatment
Some authors state that FD tends to stabilize after adolescence (Mierzwiński et al. 2018), and thus recommend refraining from surgery if possible until after that point (Menon et al. 2013; Mierzwiński et al. 2018). Various surgical procedures have been attempted depending on the specific loci and complications of temporal bone involvement in FD (Al-Shawi et al. 2021; Fandiño et al. 2014; Franzoi et al. 2023; Kim et al. 2009; Lustig et al. 2001; Menon et al. 2013; Sakamoto et al. 2011; Sataloff, Graham, Roberts 1985; Shakeel et al. 2012; Tochino, Sunami, Yamane 2004; Yang et al. 2012).
Prognosis
FD replaces normal bone with abnormal fibrous tissue that cannot truly be restored. The disease often (though not always) stabilizes in adulthood. Surgical treatment may help correct some deficits, but outcomes may be suboptimal.
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