Surgical management for isolated macrodactyly in an adult PIK3CA mutant

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...

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Autores principales: Jacobs, C.J., Vreeburg, M., de Die-Smulders, C.E.M., Staal, H.M., Lauwers, T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7680883/
https://www.ncbi.nlm.nih.gov/pubmed/33251316
http://dx.doi.org/10.1016/j.jpra.2020.10.002
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author Jacobs, C.J.
Vreeburg, M.
de Die-Smulders, C.E.M.
Staal, H.M.
Lauwers, T.
author_facet Jacobs, C.J.
Vreeburg, M.
de Die-Smulders, C.E.M.
Staal, H.M.
Lauwers, T.
author_sort Jacobs, C.J.
collection PubMed
description 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.
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spelling pubmed-76808832020-11-27 Surgical management for isolated macrodactyly in an adult PIK3CA mutant Jacobs, C.J. Vreeburg, M. de Die-Smulders, C.E.M. Staal, H.M. Lauwers, T. JPRAS Open Case Report 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. Elsevier 2020-10-22 /pmc/articles/PMC7680883/ /pubmed/33251316 http://dx.doi.org/10.1016/j.jpra.2020.10.002 Text en © 2020 The Authors. Published by Elsevier Ltd on behalf of British Association of Plastic, Reconstructive and Aesthetic Surgeons. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Jacobs, C.J.
Vreeburg, M.
de Die-Smulders, C.E.M.
Staal, H.M.
Lauwers, T.
Surgical management for isolated macrodactyly in an adult PIK3CA mutant
title Surgical management for isolated macrodactyly in an adult PIK3CA mutant
title_full Surgical management for isolated macrodactyly in an adult PIK3CA mutant
title_fullStr Surgical management for isolated macrodactyly in an adult PIK3CA mutant
title_full_unstemmed Surgical management for isolated macrodactyly in an adult PIK3CA mutant
title_short Surgical management for isolated macrodactyly in an adult PIK3CA mutant
title_sort surgical management for isolated macrodactyly in an adult pik3ca mutant
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7680883/
https://www.ncbi.nlm.nih.gov/pubmed/33251316
http://dx.doi.org/10.1016/j.jpra.2020.10.002
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