McMahon, M.H., Tahir, N. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2022) GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations. BMJ Case Reports, 15 (6). e246114. ISSN 1757-790X
Abstract
Cutaneous venous malformations frequently present with blue-pink lesions on the skin or mucosal surfaces. They can be problematic for patients who experience pain or unsightly lesions and can also be associated with significant bleeding. A proportion of venous malformations have been noted to occur in families, in particular glomuvenous malformations (GVMs). A ‘two-hit’ occurrence of genetic pathogenic variants appears to explain the appearance of GVMs, with the initial change in the germline copy of GLMN followed by a second somatic hit. Here we discuss a report of siblings experiencing such lesions, which were diagnosed as GVMs by genetic testing. We include a review of the literature regarding the clinical and genetic differences between these groups of venous malformations.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © BMJ Publishing Group Limited 2022. This is an author-produced version of a paper subsequently published in BMJ Case Reports. Uploaded in accordance with the publisher's self-archiving policy. This version is distributed under the terms of the Creative Commons Attribution-NonCommercial Licence (http://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. You may not use the material for commercial purposes. |
Keywords: | Interventional radiology; Paediatrics; Genetic screening; counselling; Dermatology |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield) The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield) |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 15 Nov 2022 14:12 |
Last Modified: | 18 Nov 2022 17:43 |
Status: | Published |
Publisher: | BMJ Publishing Group |
Refereed: | Yes |
Identification Number: | 10.1136/bcr-2021-246114 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:193268 |
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