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PIK3CA-related overgrowth spectrum (PROS): a rare case report
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 lif...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205319/ https://www.ncbi.nlm.nih.gov/pubmed/37229069 http://dx.doi.org/10.1097/MS9.0000000000000485 |
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author | Kalo, Cedra Khana, Firas Jazmati, Aya Kalo, Sima Ishkhanian, Silva Kayyali, Alae Sawas, Taher |
author_facet | Kalo, Cedra Khana, Firas Jazmati, Aya Kalo, Sima Ishkhanian, Silva Kayyali, Alae Sawas, Taher |
author_sort | Kalo, Cedra |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10205319 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-102053192023-05-24 PIK3CA-related overgrowth spectrum (PROS): a rare case report Kalo, Cedra Khana, Firas Jazmati, Aya Kalo, Sima Ishkhanian, Silva Kayyali, Alae Sawas, Taher Ann Med Surg (Lond) Case Reports 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. Lippincott Williams & Wilkins 2023-04-07 /pmc/articles/PMC10205319/ /pubmed/37229069 http://dx.doi.org/10.1097/MS9.0000000000000485 Text en Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by-sa/4.0/This is an open access article distributed under the Creative Commons Attribution-ShareAlike License 4.0 (https://creativecommons.org/licenses/by-sa/4.0/) , which allows others to remix, tweak, and build upon the work, even for commercial purposes, as long as the author is credited and the new creations are licensed under the identical terms. http://creativecommons.org/licenses/by-sa/4.0/ (https://creativecommons.org/licenses/by-sa/4.0/) |
spellingShingle | Case Reports Kalo, Cedra Khana, Firas Jazmati, Aya Kalo, Sima Ishkhanian, Silva Kayyali, Alae Sawas, Taher PIK3CA-related overgrowth spectrum (PROS): a rare case report |
title | PIK3CA-related overgrowth spectrum (PROS): a rare case report |
title_full | PIK3CA-related overgrowth spectrum (PROS): a rare case report |
title_fullStr | PIK3CA-related overgrowth spectrum (PROS): a rare case report |
title_full_unstemmed | PIK3CA-related overgrowth spectrum (PROS): a rare case report |
title_short | PIK3CA-related overgrowth spectrum (PROS): a rare case report |
title_sort | pik3ca-related overgrowth spectrum (pros): a rare case report |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205319/ https://www.ncbi.nlm.nih.gov/pubmed/37229069 http://dx.doi.org/10.1097/MS9.0000000000000485 |
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