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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | JPRAS Open |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352587820300450 |
| _version_ | 1819007452367028224 |
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| author | C.J. Jacobs M. Vreeburg C.E.M. de Die-Smulders H.M. Staal T. Lauwers |
| author_facet | C.J. Jacobs M. Vreeburg C.E.M. de Die-Smulders H.M. Staal T. Lauwers |
| author_sort | C.J. Jacobs |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-21T00:24:48Z |
| format | Article |
| id | doaj.art-e12358f2e6fd485fa7a4fb6268e8e538 |
| institution | Directory Open Access Journal |
| issn | 2352-5878 |
| language | English |
| last_indexed | 2024-12-21T00:24:48Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JPRAS Open |
| spelling | doaj.art-e12358f2e6fd485fa7a4fb6268e8e5382022-12-21T19:22:01ZengElsevierJPRAS Open2352-58782020-12-01268690Surgical management for isolated macrodactyly in an adult PIK3CA mutantC.J. Jacobs0M. Vreeburg1C.E.M. de Die-Smulders2H.M. Staal3T. Lauwers4Faculty of Health, Maastricht University, Medicine and Life Sciences, the Netherlands; Department of Plastic, Reconstructive and Hand Surgery, Maastricht University Medical Centre+, MUMC+, Box 5800, 6202 AZ Maastricht, the NetherlandsDepartment of Clinical Genetics, MUMC+, Maastricht, the NetherlandsDepartment of Clinical Genetics, MUMC+, Maastricht, the Netherlands; School for Oncology & Developmental Biology (GROW), Maastricht University, the NetherlandsDepartment of Orthopaedics, MUMC+, Maastricht, the NetherlandsDepartment of Plastic, Reconstructive and Hand Surgery, Maastricht University Medical Centre+, MUMC+, Box 5800, 6202 AZ Maastricht, the Netherlands; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S2352587820300450Macrodystrophia lipomatosaMacrodactylyPIK3CA mutationPartial amputationCarpal bones stability |
| spellingShingle | C.J. Jacobs M. Vreeburg C.E.M. de Die-Smulders H.M. Staal T. Lauwers Surgical management for isolated macrodactyly in an adult PIK3CA mutant JPRAS Open Macrodystrophia lipomatosa Macrodactyly PIK3CA mutation Partial amputation Carpal bones stability |
| 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 | Macrodystrophia lipomatosa Macrodactyly PIK3CA mutation Partial amputation Carpal bones stability |
| url | http://www.sciencedirect.com/science/article/pii/S2352587820300450 |
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