Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review

Lecumberri, Beatriz; Pozo‐Kreilinger, José Juan; Esteban, I.; Gomes, Mariana Davim Ferreira; Royo, Arantxa; Riva, Á. Gómez de la; Nanclares, Guiomar Pérez de

doi:10.1007/s00428-018-2396-z

Cited by 7 publications

(3 citation statements)

References 12 publications

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“…These best practice guidelines have been developed by an international collaboration between multiple clinical specialities, patients and patient advocacy groups, using the best evidence available. The FD/MAS guidelines are intended to improve the clinical care of patients across the world by addressing diagnosis, staging, treatment and monitoring aspects of their care given the potential serious risks to patient outcomes with late diagnosis [90]. The provision of a Patient Checklist (See Additional file 1: Fibrous Dysplasia and McCune-Albright Syndrome: A Checklist of P atients and Doctors) is aimed at informing and empowering patients to seek excellence of healthcare for their disease.…”

Section: Resultsmentioning

confidence: 99%

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Javaid

Boyce

Appelman‐Dijkstra

et al. 2019

Orphanet J Rare Dis

176

198

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Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. To address this, our international consortium of clinicians, researchers, and patients’ advocates has developed pragmatic clinical guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings. With the lack of strong evidence to inform care, the guidelines were developed based on review of published literature, long-standing extensive experience of authors, input from other healthcare professionals involved in the care of FD/MAS patients and feedback from patients and patient groups across the globe. This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, carers and patient groups of the best practice of care. It is anticipated the implementation of these recommendations will lead to improvement in the care of patients with FD/MAS internationally. Electronic supplementary material The online version of this article (10.1186/s13023-019-1102-9) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Javaid

Boyce

Appelman‐Dijkstra

et al. 2019

Orphanet J Rare Dis

176

198

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“…24 Although colloid cysts occur sporadically, there is growing evidence of their familial occurrence, especially involving monozygotic twins. 25 They have also rarely been associated with agenesis of the corpus callosum, 26 McCune-Albright syndrome, 27 and Gorlin syndrome. 28,29 Neurenteric cyst is rare and most commonly located in the posterior fossa and in the spinal compartment.…”

Section: Endodermal Cystsmentioning

confidence: 99%

Nonneoplastic and noninfective cysts of the central nervous system: A histopathological study

et al. 2022

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Nonneoplastic epithelial cysts involving the central nervous system are diverse and are predominantly developmental in origin. This study represents a surgical series describing the histopathological features of 507 such epithelial cysts with clinical and imaging correlation. Age at surgery ranged from 7 months to 72 years (mean: 33 years) affecting 246 male and 261 female patients. Colloid cyst was the most frequently resected cyst, followed by epidermoid cyst, arachnoid cyst, Rathke cleft cyst, dermoid cyst, neurenteric cyst, Tarlov cyst, and choroid plexus cyst. Diagnosis was based on the location of the cysts and the nature of the lining epithelium. Rathke cleft cyst showed the highest propensity for squamous metaplasia, significant inflammation, and xanthogranulomatous reaction. Ulceration of lining epithelium and calcification were most frequent in dermoid cyst. Radiopathological concordance was maximal for colloid cyst, followed by epidermoid and arachnoid cysts. Epidermoid and dermoid cysts exhibited the highest propensity for local tumor progression, followed by Rathke cleft cyst.

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“…The phenotype is correspondingly variable (68). McCune-Albright syndrome is based on GNAS1 mutation happening early during embryogenesis and resulting in a phenotype characterized by significant endocrine dysregulation in addition to metabolic bone and pigmentation disorders (69). For skeletal manifestations of the GNAS1 mutation, an influence of the bone metabolism by gene product Gs alpha on the parathyroid receptor is assumed (64).…”

Section: Fibrous Dysplasiamentioning

confidence: 99%

Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey

2019

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Background: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. Although tumors or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the triple X syndrome (TXS). Case Report: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. The examination of the psychologically conspicuous patient revealed a unilateral mandibular tumor with dysesthesia of the mental nerve. Surgical removal of soft, crumbly spongiosa over the nerve canal resulted in sufficient pressure release of the constricted nerve and restoration of epicritic sensitivity. Imaging findings and histological and molecular genetic examination revealed monostotic craniofacial fibrous dysplasia. Conclusion: Although the data in the literature do not give reason to suppose an accumulation of neoplasms in TXS, a numb chin syndrome should be a reason for detailed diagnostics. Careful diagnosis allows for customized therapy. This is the first report on the coincidence of TXS, fragile X syndrome, and fibrous dysplasia in a single individual.

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Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review

Cited by 7 publications

References 12 publications

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Nonneoplastic and noninfective cysts of the central nervous system: A histopathological study

Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey

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