The long-term progression of macrodactyly

Background: Macrodactyly is a rare congenital disorder of overgrowth affecting the digits of the upper or lower extremity. Mostly, patients are surgically treated during childhood to reduce the digit or to stop growth. There are no standardized guidelines for the treatment and follow-up of macrodact...

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Autores principales:	Merel L.E. Stor, Max M. Lokhorst, Sophie E.R. Horbach, Chantal M.A.M. van der Horst
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2022
Materias:	Macrodactyly macrodystrophia lipomatosa overgrowth PIK3CA Surgery RD1-811
Acceso en línea:	https://doaj.org/article/ce689c643c6f4e38ba93192585322d1d
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spelling	oai:doaj.org-article:ce689c643c6f4e38ba93192585322d1d2021-11-26T04:34:40ZThe long-term progression of macrodactyly2352-587810.1016/j.jpra.2021.10.004https://doaj.org/article/ce689c643c6f4e38ba93192585322d1d2022-03-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2352587821000929https://doaj.org/toc/2352-5878Background: Macrodactyly is a rare congenital disorder of overgrowth affecting the digits of the upper or lower extremity. Mostly, patients are surgically treated during childhood to reduce the digit or to stop growth. There are no standardized guidelines for the treatment and follow-up of macrodactyly. Consequently, follow-up may not be regularly scheduled into adulthood. Methods: A retrospective, descriptive analysis of patients with the long-term progression of macrodactyly who presented at our tertiary referral hospital between July 2018 and March 2020 was performed. All patients from our local macrodactyly database were screened for progression of macrodactyly since adulthood; this resulted in four patients. The aim of these case series is to highlight the clinical features and disease course at long-term follow-up. Results: All patients were surgically treated during childhood and showed progression of tissue overgrowth during adult life. All patients developed severe secondary degenerative bone changes in macrodactyly affected digits, such as ankyloses of joints, new bone formation, and bony spurs. Subsequently, tissue overgrowth and degenerative bone changes led to functional problems. Conclusion: Patients with macrodactyly may experience growth during adult life, which may progress to deforming changes. Consequently, patients should be informed about the possible growth, and the progressive growth should be monitored.Merel L.E. StorMax M. LokhorstSophie E.R. HorbachChantal M.A.M. van der HorstElsevierarticleMacrodactylymacrodystrophia lipomatosaovergrowthPIK3CASurgeryRD1-811ENJPRAS Open, Vol 31, Iss , Pp 10-21 (2022)
institution	DOAJ
collection	DOAJ
language	EN
topic	Macrodactyly macrodystrophia lipomatosa overgrowth PIK3CA Surgery RD1-811
spellingShingle	Macrodactyly macrodystrophia lipomatosa overgrowth PIK3CA Surgery RD1-811 Merel L.E. Stor Max M. Lokhorst Sophie E.R. Horbach Chantal M.A.M. van der Horst The long-term progression of macrodactyly
description	Background: Macrodactyly is a rare congenital disorder of overgrowth affecting the digits of the upper or lower extremity. Mostly, patients are surgically treated during childhood to reduce the digit or to stop growth. There are no standardized guidelines for the treatment and follow-up of macrodactyly. Consequently, follow-up may not be regularly scheduled into adulthood. Methods: A retrospective, descriptive analysis of patients with the long-term progression of macrodactyly who presented at our tertiary referral hospital between July 2018 and March 2020 was performed. All patients from our local macrodactyly database were screened for progression of macrodactyly since adulthood; this resulted in four patients. The aim of these case series is to highlight the clinical features and disease course at long-term follow-up. Results: All patients were surgically treated during childhood and showed progression of tissue overgrowth during adult life. All patients developed severe secondary degenerative bone changes in macrodactyly affected digits, such as ankyloses of joints, new bone formation, and bony spurs. Subsequently, tissue overgrowth and degenerative bone changes led to functional problems. Conclusion: Patients with macrodactyly may experience growth during adult life, which may progress to deforming changes. Consequently, patients should be informed about the possible growth, and the progressive growth should be monitored.
format	article
author	Merel L.E. Stor Max M. Lokhorst Sophie E.R. Horbach Chantal M.A.M. van der Horst
author_facet	Merel L.E. Stor Max M. Lokhorst Sophie E.R. Horbach Chantal M.A.M. van der Horst
author_sort	Merel L.E. Stor
title	The long-term progression of macrodactyly
title_short	The long-term progression of macrodactyly
title_full	The long-term progression of macrodactyly
title_fullStr	The long-term progression of macrodactyly
title_full_unstemmed	The long-term progression of macrodactyly
title_sort	long-term progression of macrodactyly
publisher	Elsevier
publishDate	2022
url	https://doaj.org/article/ce689c643c6f4e38ba93192585322d1d
work_keys_str_mv	AT merellestor thelongtermprogressionofmacrodactyly AT maxmlokhorst thelongtermprogressionofmacrodactyly AT sophieerhorbach thelongtermprogressionofmacrodactyly AT chantalmamvanderhorst thelongtermprogressionofmacrodactyly AT merellestor longtermprogressionofmacrodactyly AT maxmlokhorst longtermprogressionofmacrodactyly AT sophieerhorbach longtermprogressionofmacrodactyly AT chantalmamvanderhorst longtermprogressionofmacrodactyly
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The long-term progression of macrodactyly

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