Balakumar, R., Farr, M.R.B., Fernando, M. et al. (3 more authors) (2019) Adult-Type Rhabdomyoma of the Larynx in Birt-Hogg-Dubé Syndrome: Evidence for a Real Association. Head and Neck Pathology, 13 (3). pp. 507-511. ISSN 1936-055X
Abstract
The autosomal dominant Birt–Hogg–Dubé syndrome is known to be associated with skin, lung and kidney lesions. It is caused by heterozygous germline mutations in the folliculin gene and has a high penetrance. We report the case of a 51 year old woman with Birt–Hogg–Dubé syndrome who presented with a laryngeal mass. Imaging confirmed a mass centered on the piriform sinus and following excision histological examination confirmed the lesion was composed of polygonal cells with abundant eosinophilic cytoplasm consistent with a rhabdomyoma. Laryngeal rhabdomyoma is rare condition and has not been previously described in association with Birt–Hogg–Dubé. In patients with Birt–Hogg–Dubé syndrome who develop upper aerodigestive tract symptoms secondary to mass lesion an adult-type rhabdomyoma might be considered as a differential, with endoscopic excision being the treatment of choice.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © The Author(s) 2018. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
Keywords: | Birt–Hogg–Dube syndrome; Folliculin; Larynx; Rhabdomyoma |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Science (Sheffield) > School of Biosciences (Sheffield) > Department of Biomedical Science (Sheffield) |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 19 Feb 2019 09:47 |
Last Modified: | 27 Oct 2021 10:14 |
Status: | Published |
Publisher: | Springer |
Refereed: | Yes |
Identification Number: | 10.1007/s12105-018-0922-6 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:138850 |
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