A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1
Neurofibromatosis type 1 (NF-1aa Neurofibromatosis type 1) is an autosomal dominant mutation on chromosome 17q11.2 which causes downregulation of the ras tumor suppressor oncogene as well as alteration in the production of the protein neurofibromin. These genetic changes commonly lead to unique phen...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-09-01
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| Series: | Annals of Vascular Surgery - Brief Reports and Innovations |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772687822000782 |
| _version_ | 1797788343329619968 |
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| author | Kyle Mahoney Valerie Vazquez Ravi Chandra |
| author_facet | Kyle Mahoney Valerie Vazquez Ravi Chandra |
| author_sort | Kyle Mahoney |
| collection | DOAJ |
| description | Neurofibromatosis type 1 (NF-1aa Neurofibromatosis type 1) is an autosomal dominant mutation on chromosome 17q11.2 which causes downregulation of the ras tumor suppressor oncogene as well as alteration in the production of the protein neurofibromin. These genetic changes commonly lead to unique phenotypes of neurofibromas, Lisch nodules, axillary freckling, and café au lait spots. Uncommonly seen in this condition are vascular anomalies leading to spontaneous hemorrhages. We present the case of a spontaneous thigh hematoma in a patient with NF-1. Since intra-operative findings did not reveal any obvious arterio-venous malformations, it was determined that the patient likely had arterial dysplasia with resultant rupture secondary to nearby invasion of a neurofibroma. |
| first_indexed | 2024-03-13T01:35:13Z |
| format | Article |
| id | doaj.art-b8e2bf899cfc49baa53672d0b94f43a7 |
| institution | Directory Open Access Journal |
| issn | 2772-6878 |
| language | English |
| last_indexed | 2024-03-13T01:35:13Z |
| publishDate | 2022-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Annals of Vascular Surgery - Brief Reports and Innovations |
| spelling | doaj.art-b8e2bf899cfc49baa53672d0b94f43a72023-07-04T05:11:53ZengElsevierAnnals of Vascular Surgery - Brief Reports and Innovations2772-68782022-09-0123100116A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1Kyle Mahoney0Valerie Vazquez1Ravi Chandra2Corresponding author.; UCF/HCA Consortium Graduate Medical Education Department of General Surgery at HCA Florida Ocala Hospital, 1431 SW 1st Ave, Ocala, FL, 34471 United StatesUCF/HCA Consortium Graduate Medical Education Department of General Surgery at HCA Florida Ocala Hospital, 1431 SW 1st Ave, Ocala, FL, 34471 United StatesUCF/HCA Consortium Graduate Medical Education Department of General Surgery at HCA Florida Ocala Hospital, 1431 SW 1st Ave, Ocala, FL, 34471 United StatesNeurofibromatosis type 1 (NF-1aa Neurofibromatosis type 1) is an autosomal dominant mutation on chromosome 17q11.2 which causes downregulation of the ras tumor suppressor oncogene as well as alteration in the production of the protein neurofibromin. These genetic changes commonly lead to unique phenotypes of neurofibromas, Lisch nodules, axillary freckling, and café au lait spots. Uncommonly seen in this condition are vascular anomalies leading to spontaneous hemorrhages. We present the case of a spontaneous thigh hematoma in a patient with NF-1. Since intra-operative findings did not reveal any obvious arterio-venous malformations, it was determined that the patient likely had arterial dysplasia with resultant rupture secondary to nearby invasion of a neurofibroma.http://www.sciencedirect.com/science/article/pii/S2772687822000782Neurofibromatosis type 1HemorrhageSpontaneousExtremityVascular surgery |
| spellingShingle | Kyle Mahoney Valerie Vazquez Ravi Chandra A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1 Annals of Vascular Surgery - Brief Reports and Innovations Neurofibromatosis type 1 Hemorrhage Spontaneous Extremity Vascular surgery |
| title | A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1 |
| title_full | A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1 |
| title_fullStr | A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1 |
| title_full_unstemmed | A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1 |
| title_short | A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1 |
| title_sort | case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1 |
| topic | Neurofibromatosis type 1 Hemorrhage Spontaneous Extremity Vascular surgery |
| url | http://www.sciencedirect.com/science/article/pii/S2772687822000782 |
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