PIK3CA-related overgrowth spectrum (PROS): a rare case report.
| Autor: | Kalo C; Departments of Dermatology and Venereology., Khana F; Medical Imaging and Diagnostic Radiology, Aleppo University Hospital (AUH)., Jazmati A; Departments of Dermatology and Venereology., Kalo S; Faculty of Medicine, University of Aleppo, Aleppo, Syria., Ishkhanian S; Departments of Dermatology and Venereology., Kayyali A; Medical Imaging and Diagnostic Radiology, Aleppo University Hospital (AUH)., Sawas T; Medical Imaging and Diagnostic Radiology, Aleppo University Hospital (AUH). |
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| Jazyk: | angličtina |
| Zdroj: | Annals of medicine and surgery (2012) [Ann Med Surg (Lond)] 2023 Apr 07; Vol. 85 (5), pp. 2001-2006. Date of Electronic Publication: 2023 Apr 07 (Print Publication: 2023). |
| DOI: | 10.1097/MS9.0000000000000485 |
| Abstrakt: | Case report. Introduction and Importance: The purpose of this study is to report an extremely rare case of PIK3CA-related overgrowth spectrum. Case Presentation: A 12-year-old boy presented with severe overgrowth in the left lower limb causing severe movement restriction and decreased quality of life. Interventions and Outcome: Episodes of myiasis were manually treated through mechanical removal and the patient was placed on rapamycin therapy for managing vascular malformations. Conclusion: CLOVES syndrome is a rare overgrowth disorder that can be confused with other overgrowth syndromes; however, clinical and imaging findings are essential for pinpointing the correct diagnosis as genetic sequencing may not always prove reliable. Competing Interests: The authors declare that they have no financial conflict of interest with regard to the content of this report. (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.) |
| Databáze: | MEDLINE |
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