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Vascular malformation rupture in a patient affected by Costello syndrome.
- Source :
-
BMJ case reports [BMJ Case Rep] 2022 Dec 16; Vol. 15 (12). Date of Electronic Publication: 2022 Dec 16. - Publication Year :
- 2022
-
Abstract
- Costello syndrome (CS) is a rare genetic syndrome affecting multiple organs, generally caused by mutations of the HRAS gene, belonging to the RAS/MAPK genes family.A male patient with CS developed a painful pulsatile mass on the lateral side of the wrist. An initial ultrasonographic investigation confirmed the presence of a radial artery lesion, possibly an arterial aneurysm. On surgical resection, histological evaluation showed a tangle of vascular structures with variable calibre and abnormal wall histology. Immunohistochemical stainings revealed a very poor endothelial contribution to the central vascular wall structure. These histological observations led us to conclude we had managed an acute vascular malformation (VM) rupture, rather than a common arterial aneurysmal condition. Considering the molecular mechanisms regulated by RAS/MAPK genes, CS patients might have a higher risk of developing VMs and, in the presence of a pulsatile mass with acute onset, VM rupture should be considered.<br />Competing Interests: Competing interests: None declared.<br /> (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)
Details
- Language :
- English
- ISSN :
- 1757-790X
- Volume :
- 15
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- BMJ case reports
- Publication Type :
- Academic Journal
- Accession number :
- 36526283
- Full Text :
- https://doi.org/10.1136/bcr-2022-250948