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Published on: June 3, 2022
Surgical management for isolated macrodactyly in an adult PIK3CA mutant
C J Jacobs1,2, M Vreeburg3, C E M de Die-Smulders3,4
1Faculty of Health, Maastricht University, Medicine and Life Sciences, the Netherlands.
Abstract:
Isolated macrodactyly in adults caused by mosaic pattern PIK3CA mutation can result in significant functional impairment and psychological burden. Due to the rarity of this condition there are no clear treatment guidelines, and those few available are focused on paediatric cases. Reports on surgical management of isolated macrodactyly in adults are lacking. We present here the surgical management through partial amputation of enlarged rays of the right hand in an individual affected by low-grade mosaic PIK3CA mutation.
