Section on Skeletal Disorders and Mineral Homeostasis, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
JAMA Otolaryngol Head Neck Surg. 2018 Feb 1;144(2):102-107. doi: 10.1001/jamaoto.2017.2407.
Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare bone and endocrine disorders in which expansile fibro-osseous lesions result in deformity, pain, and functional impairment. The effect of FD on hearing and otologic function has not been established.
To characterize audiologic and otologic manifestations in a large cohort of individuals with FD/MAS and to investigate potential mechanisms of hearing loss.
DESIGN, SETTING, AND PARTICIPANTS: In this natural history study, individuals with craniofacial FD seen at a clinical research center underwent clinical, biochemical, computed tomographic, audiologic, and otolaryngologic evaluations.
Clinical and radiologic features associated with hearing loss and otologic disease were evaluated. Conductive hearing loss was hypothesized to be associated with narrowing of the external auditory canal (EAC), FD involving the epitympanum, and FD crowding the ossicular chain. Sensorineural hearing loss was hypothesized to be associated with FD affecting the internal auditory canal (IAC) and otic capsule.
Of the 130 study participants with craniofacial FD who were evaluated, 116 (89.2%) had FD that involved the temporal bone (median age, 19.6 years; range, 4.6-80.3 years; 64 female [55.2%]), whereas 14 (10.8%) had craniofacial FD that did not involve the temporal bone. Of the 183 ears with temporal bone FD, hearing loss was identified in 41 ears (22.4%) and was conductive in 27 (65.9%), sensorineural in 12 (29.3%), and mixed in 2 (4.9%). Hearing loss was mild and nonprogressive in most participants. Whereas EACs were narrower in ears with FD (mean difference [MD], 0.33 mm; 95% CI, 0.11-0.55 mm), this finding was associated with conductive hearing loss in only 4 participants. Fibrous dysplasia crowding of the ossicles was associated with conductive hearing loss (odds ratio [OR], 5.0; 95% CI, 2.1-11.6). The IAC length was not different between ears with and without FD (MD, -0.37; 95% CI, -0.95 to 0.211); however, canals were elongated in ears with sensorineural hearing loss (MD, -1.33; 95% CI, -2.60 to -0.07). Otic capsule involvement was noted in only 4 participants, 2 of whom had sensorineural hearing loss. Both MAS-associated growth hormone excess (OR, 3.1; 95% CI, 1.3-7.5) and neonatal hypercortisolism (OR, 11; 95% CI, 2.5-55) were associated with an increased risk of hearing loss .
Hearing loss in craniofacial FD is common and mild to moderate in most individuals. It typically arises from FD crowding of the ossicular chain and elongation of the IAC, whereas EAC stenosis and otic capsule invasion are less common causes. Individuals with craniofacial FD should undergo otolaryngologic evaluation and monitoring, including assessment to identify those with high-risk features.
纤维发育不良（FD）和 McCune-Albright 综合征（MAS）是罕见的骨骼和内分泌疾病，其中膨胀性纤维骨病变导致畸形、疼痛和功能障碍。FD 对听力和耳科功能的影响尚未确定。
描述大量 FD/MAS 患者的听力和耳科表现，并探讨听力损失的潜在机制。
设计、地点和参与者：在这项自然史研究中，在临床研究中心就诊的患有颅面 FD 的患者接受了临床、生化、计算机断层扫描、听力和耳鼻喉科评估。
评估与听力损失和耳部疾病相关的临床和影像学特征。假设传导性听力损失与外耳道（EAC）变窄、鼓室上 FD 和 FD 挤迫听小骨链有关。感音神经性听力损失与 FD 影响内听道（IAC）和耳囊有关。
在接受评估的 130 名患有颅面 FD 的研究参与者中，116 名（89.2%）的颞骨有 FD（中位年龄 19.6 岁；范围 4.6-80.3 岁；64 名女性[55.2%]），而 14 名（10.8%）颅面 FD 不涉及颞骨。在 183 只颞骨 FD 耳朵中，41 只（22.4%）有听力损失，27 只（65.9%）为传导性，12 只（29.3%）为感音神经性，2 只（4.9%）为混合性。在大多数患者中，听力损失较轻且无进展。虽然 FD 耳的 EAC 较窄（平均差异 [MD]，0.33 毫米；95%CI，0.11-0.55 毫米），但这一发现仅与 4 名参与者的传导性听力损失有关。纤维发育不良使听小骨拥挤与传导性听力损失有关（比值比 [OR]，5.0；95%CI，2.1-11.6）。FD 耳的 IAC 长度与无 FD 耳无差异（MD，-0.37；95%CI，-0.95 至 0.211）；然而，在感音神经性听力损失的耳朵中，耳道延长（MD，-1.33；95%CI，-2.60 至-0.07）。只有 4 名参与者有耳囊受累，其中 2 名有感音神经性听力损失。MAS 相关生长激素过多（OR，3.1；95%CI，1.3-7.5）和新生儿皮质醇过多（OR，11；95%CI，2.5-55）均与听力损失风险增加有关。
颅面 FD 的听力损失在大多数患者中较为常见，且程度较轻至中度。它通常源于 FD 挤迫听小骨链和 IAC 伸长，而 EAC 狭窄和耳囊侵犯则是不太常见的原因。患有颅面 FD 的患者应接受耳鼻喉科评估和监测，包括评估以确定具有高危特征的患者。
