CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects
Purpose of Research: The research aims to provide an in-depth understanding of CLOVES syndrome, detailing its clinical features, epidemiology, etiology, and diagnostic criteria. It focuses on the role of PIK3CA gene mutations, challenges in diagnosis, and treatment options, including PI3K/AKT/mTOR...
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| Format: | Article |
| Language: | English |
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Nicolaus Copernicus University in Toruń
2025-02-01
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| Series: | Quality in Sport |
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| Online Access: | https://apcz.umk.pl/QS/article/view/58253 |
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| author | Julianna Podolec Silvia Ciraolo Joanna Wojda Adam Sobiński Zuzanna Kościuszko Katarzyna Kurza Agnieszka Kulczycka-Rowicka Matylda Czerwonka Katarzyna Lesiczka-Fedoryj Anna Walczak |
| author_facet | Julianna Podolec Silvia Ciraolo Joanna Wojda Adam Sobiński Zuzanna Kościuszko Katarzyna Kurza Agnieszka Kulczycka-Rowicka Matylda Czerwonka Katarzyna Lesiczka-Fedoryj Anna Walczak |
| author_sort | Julianna Podolec |
| collection | DOAJ |
| description |
Purpose of Research: The research aims to provide an in-depth understanding of CLOVES syndrome, detailing its clinical features, epidemiology, etiology, and diagnostic criteria. It focuses on the role of PIK3CA gene mutations, challenges in diagnosis, and treatment options, including PI3K/AKT/mTOR pathway inhibitors.
Research Materials and Methods: This article is based on a review of the current literature and clinical reports from various sources. The methodology includes a collection and synthesis of clinical data, imaging findings, and genetic analyses from published case studies and medical literature. The primary materials used in the research include: clinical case reports and studies, imaging studies, genetic analysis, therapeutic interventions, epidemiological data, literature review and data analysis.
Basic Results: CLOVES syndrome affects fewer than 200 individuals worldwide, with symptoms appearing at birth or early childhood. It can lead to serious complications such as nerve compression, deep vein thrombosis, and pulmonary embolism. Diagnosis involves genetic testing and imaging, and sirolimus shows potential in managing symptoms.
Conclusions: CLOVES syndrome is a rare, non-hereditary overgrowth disorder caused by a PIK3CA gene mutation. Early diagnosis and a multidisciplinary approach are vital for managing this complex condition and improving patient outcomes.
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| format | Article |
| id | doaj-art-00f514ea18754268824beaa0d8ae0d7c |
| institution | Kabale University |
| issn | 2450-3118 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nicolaus Copernicus University in Toruń |
| record_format | Article |
| series | Quality in Sport |
| spelling | doaj-art-00f514ea18754268824beaa0d8ae0d7c2025-02-12T08:26:19ZengNicolaus Copernicus University in ToruńQuality in Sport2450-31182025-02-013810.12775/QS.2025.38.58253CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic AspectsJulianna Podolec0https://orcid.org/0009-0000-6980-7046Silvia Ciraolo1https://orcid.org/0009-0005-7010-5195Joanna Wojda2https://orcid.org/0009-0006-2662-8893Adam Sobiński3https://orcid.org/0009-0003-3063-5621Zuzanna Kościuszko4https://orcid.org/0009-0008-1490-8569Katarzyna Kurza5https://orcid.org/0009-0009-0075-2257Agnieszka Kulczycka-Rowicka6https://orcid.org/0009-0009-8917-4042Matylda Czerwonka7https://orcid.org/0009-0000-9738-9646Katarzyna Lesiczka-Fedoryj8https://orcid.org/0009-0004-4213-3028Anna Walczak9https://orcid.org/0009-0004-4554-9598University Clinical Hospital in BialystokUniversity Clinical Hospital in Bialystok: Bialystok, PL Maria Skłodowska- Curie 24A, 15-276 BialystokUniversity Clinical Hospital in Bialystok: Białystok, PL Maria Skłodowska- Curie 24A, 15-276 BialystokMEDAR Private Healthcare Facility in LeczycaFlorian Ceynowy Specialist Hospital in Wejherowo: Wejherowo, PLIndependent Public Health Care Facility in MysleniceŚniadeckiego Voivodeship Hospital in Bialystok: BiałystokŚniadeckiego Voivodeship Hospital in BiałystokHospital in Puszczykowo: Puszczykowo, PLŚniadeckiego Voivodeship Hospital in Bialystok: Białystok, PL Purpose of Research: The research aims to provide an in-depth understanding of CLOVES syndrome, detailing its clinical features, epidemiology, etiology, and diagnostic criteria. It focuses on the role of PIK3CA gene mutations, challenges in diagnosis, and treatment options, including PI3K/AKT/mTOR pathway inhibitors. Research Materials and Methods: This article is based on a review of the current literature and clinical reports from various sources. The methodology includes a collection and synthesis of clinical data, imaging findings, and genetic analyses from published case studies and medical literature. The primary materials used in the research include: clinical case reports and studies, imaging studies, genetic analysis, therapeutic interventions, epidemiological data, literature review and data analysis. Basic Results: CLOVES syndrome affects fewer than 200 individuals worldwide, with symptoms appearing at birth or early childhood. It can lead to serious complications such as nerve compression, deep vein thrombosis, and pulmonary embolism. Diagnosis involves genetic testing and imaging, and sirolimus shows potential in managing symptoms. Conclusions: CLOVES syndrome is a rare, non-hereditary overgrowth disorder caused by a PIK3CA gene mutation. Early diagnosis and a multidisciplinary approach are vital for managing this complex condition and improving patient outcomes. https://apcz.umk.pl/QS/article/view/58253Congenital lipomatous overgrowthvascular malformationepidermal neviskeletal anomaly syndromeasymmetric overgrowthlipoma, PIK3CA gene |
| spellingShingle | Julianna Podolec Silvia Ciraolo Joanna Wojda Adam Sobiński Zuzanna Kościuszko Katarzyna Kurza Agnieszka Kulczycka-Rowicka Matylda Czerwonka Katarzyna Lesiczka-Fedoryj Anna Walczak CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects Quality in Sport Congenital lipomatous overgrowth vascular malformation epidermal nevi skeletal anomaly syndrome asymmetric overgrowth lipoma, PIK3CA gene |
| title | CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects |
| title_full | CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects |
| title_fullStr | CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects |
| title_full_unstemmed | CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects |
| title_short | CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects |
| title_sort | cloves syndrome a review of clinical genetic and therapeutic aspects |
| topic | Congenital lipomatous overgrowth vascular malformation epidermal nevi skeletal anomaly syndrome asymmetric overgrowth lipoma, PIK3CA gene |
| url | https://apcz.umk.pl/QS/article/view/58253 |
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