Surgical management for isolated macrodactyly in an adult PIK3CA mutant

C J Jacobs; M Vreeburg; C E M de Die-Smulders; H M Staal; T Lauwers

doi:10.1016/j.jpra.2020.10.002

Surgical management for isolated macrodactyly in an adult PIK3CA mutant

C J Jacobs, M Vreeburg, C E M de Die-Smulders, H M Staal, T Lauwers^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	86-90
Number of pages	5
Journal	JPRAS Open
Volume	26
DOIs	https://doi.org/10.1016/j.jpra.2020.10.002
Publication status	Published - Dec 2020

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10.1016/j.jpra.2020.10.002Licence: CC BY

Cite this

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title = "Surgical management for isolated macrodactyly in an adult PIK3CA mutant",

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.",

author = "Jacobs, {C J} and M Vreeburg and {de Die-Smulders}, {C E M} and Staal, {H M} and T Lauwers",

note = "{\textcopyright} 2020 The Authors. Published by Elsevier Ltd on behalf of British Association of Plastic, Reconstructive and Aesthetic Surgeons.",

year = "2020",

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doi = "10.1016/j.jpra.2020.10.002",

language = "English",

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AU - Jacobs, C J

AU - Vreeburg, M

AU - de Die-Smulders, C E M

AU - Staal, H M

AU - Lauwers, T

PY - 2020/12

Y1 - 2020/12

N2 - 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.

AB - 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.

U2 - 10.1016/j.jpra.2020.10.002

DO - 10.1016/j.jpra.2020.10.002

M3 - Article

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SN - 2352-5878

VL - 26

SP - 86

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JF - JPRAS Open

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