Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?
Hughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The etiology and pathogenesis of HSS are incompletely known. The current consensus is that vasculitis underlies the pathogenic process, and pulmonary thrombosis follows arter...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-02-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/4/3160 |
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| author | Simona Manole Raluca Rancea Romana Vulturar Siao-Pin Simon Adrian Molnar Laura Damian |
| author_facet | Simona Manole Raluca Rancea Romana Vulturar Siao-Pin Simon Adrian Molnar Laura Damian |
| author_sort | Simona Manole |
| collection | DOAJ |
| description | Hughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The etiology and pathogenesis of HSS are incompletely known. The current consensus is that vasculitis underlies the pathogenic process, and pulmonary thrombosis follows arterial wall inflammation. As such, Hughes-Stovin syndrome may belong to the vascular cluster with lung involvement of Behçet syndrome, although oral aphtae, arthritis, and uveitis are rarely found. Behçet syndrome is a multifactorial polygenic disease with genetic, epigenetic, environmental, and mostly immunological contributors. The different Behçet syndrome phenotypes are presumably based upon different genetic determinants involving more than one pathogenic pathway. Hughes-Stovin syndrome may have common pathways with fibromuscular dysplasias and other diseases evolving with vascular aneurysms. We describe a Hughes-Stovin syndrome case fulfilling the Behçet syndrome criteria. A <i>MYLK</i> variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways. We discuss the possible involvement of these genetic findings, as well as other potential common determinants of Behçet/Hughes-Stovin syndrome and aneurysms in vascular Behçet syndrome. Recent advances in diagnostic techniques, including genetic testing, could help diagnose a specific Behçet syndrome subtype and other associated conditions to personalize the disease management. |
| first_indexed | 2024-03-11T08:43:45Z |
| format | Article |
| id | doaj.art-363bec7089f74fdb868bcb826ed26e08 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T08:43:45Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-363bec7089f74fdb868bcb826ed26e082023-11-16T20:56:10ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-02-01244316010.3390/ijms24043160Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?Simona Manole0Raluca Rancea1Romana Vulturar2Siao-Pin Simon3Adrian Molnar4Laura Damian5Department of Radiology, “Niculae Stăncioiu” Heart Institute, 19-21 Calea Moților Street, 400001 Cluj-Napoca, RomaniaCardiology Department, Heart Institute “Niculae Stăncioiu”, 19-21 Calea Moților Street, 400001 Cluj-Napoca, RomaniaDepartment of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy 6, Pasteur, 400349 Cluj-Napoca, RomaniaDepartment of Rheumatology, Emergency Clinical County Hospital Cluj, Centre for Rare Autoimmune and Autoinflammatory Diseases (ERN-ReCONNET), 2-4 Clinicilor Street, 400347 Cluj-Napoca, RomaniaDepartment of Cardiovascular Surgery, Heart Institute “Niculae Stăncioiu”, 19-21 Calea Moților Street, 400001 Cluj-Napoca, RomaniaDepartment of Rheumatology, Emergency Clinical County Hospital Cluj, Centre for Rare Autoimmune and Autoinflammatory Diseases (ERN-ReCONNET), 2-4 Clinicilor Street, 400347 Cluj-Napoca, RomaniaHughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The etiology and pathogenesis of HSS are incompletely known. The current consensus is that vasculitis underlies the pathogenic process, and pulmonary thrombosis follows arterial wall inflammation. As such, Hughes-Stovin syndrome may belong to the vascular cluster with lung involvement of Behçet syndrome, although oral aphtae, arthritis, and uveitis are rarely found. Behçet syndrome is a multifactorial polygenic disease with genetic, epigenetic, environmental, and mostly immunological contributors. The different Behçet syndrome phenotypes are presumably based upon different genetic determinants involving more than one pathogenic pathway. Hughes-Stovin syndrome may have common pathways with fibromuscular dysplasias and other diseases evolving with vascular aneurysms. We describe a Hughes-Stovin syndrome case fulfilling the Behçet syndrome criteria. A <i>MYLK</i> variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways. We discuss the possible involvement of these genetic findings, as well as other potential common determinants of Behçet/Hughes-Stovin syndrome and aneurysms in vascular Behçet syndrome. Recent advances in diagnostic techniques, including genetic testing, could help diagnose a specific Behçet syndrome subtype and other associated conditions to personalize the disease management.https://www.mdpi.com/1422-0067/24/4/3160Hughes-Stovin syndromeBehçet syndromevascular clusterpulmonary artery aneurysm<i>MYLK</i>myosin light chain kinase |
| spellingShingle | Simona Manole Raluca Rancea Romana Vulturar Siao-Pin Simon Adrian Molnar Laura Damian Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants? International Journal of Molecular Sciences Hughes-Stovin syndrome Behçet syndrome vascular cluster pulmonary artery aneurysm <i>MYLK</i> myosin light chain kinase |
| title | Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants? |
| title_full | Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants? |
| title_fullStr | Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants? |
| title_full_unstemmed | Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants? |
| title_short | Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants? |
| title_sort | frail silk is the hughes stovin syndrome a behcet syndrome subtype with aneurysm involved gene variants |
| topic | Hughes-Stovin syndrome Behçet syndrome vascular cluster pulmonary artery aneurysm <i>MYLK</i> myosin light chain kinase |
| url | https://www.mdpi.com/1422-0067/24/4/3160 |
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