Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives

Robinson, Cemre; Collins, Michael T.; Boyce, Alison M

doi:10.1007/s11914-016-0317-0

Cited by 126 publications

(120 citation statements)

References 69 publications

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“…Синдром Маккьюна-Олбрайта (ген GNASI) протекает с вторичной гипофосфатемией, возникающей на фоне потери фосфора с мочой (гиперфосфатурия), что приво-дит к развитию остеомаляции [88].…”

Section: педиатрическая фармакологияunclassified

Osteogenesis Imperfecta: Diagnostic Feature

et al. 2018

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Section: педиатрическая фармакологияunclassified

Osteogenesis Imperfecta: Diagnostic Feature

et al. 2018

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“…Café-au-lait macules are supposed to be the first manifestation, shortly after birth. Nonetheless, FD lesions usually are not apparent before the first years of life (1,6). These lesions commonly lead to bone pain and insufficiency fractures (6).…”

Section: Case Reportmentioning

confidence: 99%

“…It is a benign condition characterized by abnormal proliferation of fibrous tissue interspersed with normal or immature bone (1). Somatic activating mutations in the cAMP-regulatory protein Gsa, result in osteoblast differentiation deficit, fibrous medullary proliferation and osteoblast hyperactivity.…”

Section: Introductionmentioning

confidence: 99%

“…Somatic activating mutations in the cAMP-regulatory protein Gsa, result in osteoblast differentiation deficit, fibrous medullary proliferation and osteoblast hyperactivity. FD may present with monoostotic or polyostotic involvement (1). Polyostotic FD combined with cutaneous hyperpigmentation (café-au-lait macules) and hyperfunctioning endocrinopathies (most commonly precocious puberty, hyperthyroidism, acromegaly, and Cushing's syndrome) is termed as Albright triad or McCune-Albright syndrome (MAS) (1,2).…”

Section: Introductionmentioning

confidence: 99%

“…FD may present with monoostotic or polyostotic involvement (1). Polyostotic FD combined with cutaneous hyperpigmentation (café-au-lait macules) and hyperfunctioning endocrinopathies (most commonly precocious puberty, hyperthyroidism, acromegaly, and Cushing's syndrome) is termed as Albright triad or McCune-Albright syndrome (MAS) (1,2). Aneurysmal bone cyst (ABC) is a benign bone lesion characterized by blood spaces separated by connective tissue septa.…”

Section: Introductionmentioning

confidence: 99%

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Secondary aneurysmal bone cyst in McCune-Albright syndrome

Tournis

Balanika

Megaloikonomos

et al. 2017

ccmbm

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SummaryPolyostotic fibrous dysplasia in combination with café-au-lait macules and hyperfunctioning endocrinopathies consists of a rare clinical condition termed as McCuneAlbright syndrome. Aneurysmal bone cysts are tumorlike cystic lesions, composed of blood-filled compartments. They may occur as primary lesions or secondary to other pathologies; most commonly giant cell tumors of bone. However, secondary aneurysmal bone cysts in McCune-Albright syndrome are exceptional. We present a 28-year-old female with McCune-Albright syndrome. She experienced precocious puberty at age 3 months. In childhood, she experienced multiple long bone fractures, facial deformity and progressive visual and hearing impairment. One year ago, she experienced a painful, gradually enlarging bone lesion involving the right ilium, pubic and ischial bone with groundglass appearance, septa, marginal sclerosis, endosteal scalloping and blow-out expansion resulting in localized thinning of the cortex. CT-guided needle biopsy of the pelvic lesion showed aneurysmal bone cyst. Selective arterial embolization was recommended, however, the patient and her relatives did not consent to proceed to treatment, and she remained in close surveillance thereafter.

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Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia

Boyce

Brewer

DeKlotz

et al. 2018

JAMA Otolaryngol Head Neck Surg

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IMPORTANCE 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. OBJECTIVES 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. MAIN OUTCOMES AND MEASURES 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. RESULTS 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. CONCLUSIONS AND RELEVANCE 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.

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Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives

Cited by 126 publications

References 69 publications

Osteogenesis Imperfecta: Diagnostic Feature

Osteogenesis Imperfecta: Diagnostic Feature

Secondary aneurysmal bone cyst in McCune-Albright syndrome

Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia

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