PIK3CA-related overgrowth spectrum (PROS): a rare case report

Case report. The purpose of this study is to report an extremely rare case of PIK3CA-related overgrowth spectrum. A 12-year-old boy presented with severe overgrowth in the left lower limb causing severe movement restriction and decreased quality of life. Episodes of myiasis were manually treated thr...

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Bibliographic Details
Published in:Annals of medicine and surgery 2023-05, Vol.85 (5), p.2001-2006
Main Authors: Kalo, Cedra, Khana, Firas, Jazmati, Aya, Kalo, Sima, Ishkhanian, Silva, Kayyali, Alae, Sawas, Taher
Format: Article
Language:English
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Case Reports
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Summary:Case report. The purpose of this study is to report an extremely rare case of PIK3CA-related overgrowth spectrum. A 12-year-old boy presented with severe overgrowth in the left lower limb causing severe movement restriction and decreased quality of life. Episodes of myiasis were manually treated through mechanical removal and the patient was placed on rapamycin therapy for managing vascular malformations. 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.
ISSN:2049-0801
2049-0801
DOI:10.1097/MS9.0000000000000485