Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kalo, Cedra, Khana, Firas, Jazmati, Aya, Kalo, Sima, Ishkhanian, Silva, Kayyali, Alae, Sawas, Taher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
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
_version_ 1785046013246963712
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
work_keys_str_mv AT kalocedra pik3carelatedovergrowthspectrumprosararecasereport
AT khanafiras pik3carelatedovergrowthspectrumprosararecasereport
AT jazmatiaya pik3carelatedovergrowthspectrumprosararecasereport
AT kalosima pik3carelatedovergrowthspectrumprosararecasereport
AT ishkhaniansilva pik3carelatedovergrowthspectrumprosararecasereport
AT kayyalialae pik3carelatedovergrowthspectrumprosararecasereport
AT sawastaher pik3carelatedovergrowthspectrumprosararecasereport