Surgical management for isolated macrodactyly in an adult PIK3CA mutant
| Autor: | Maaike Vreeburg, C.J. Jacobs, T. Lauwers, C. E. M. De Die-Smulders, H.M. Staal |
|---|---|
| Přispěvatelé: | Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: MA AIOS Orthopedie (9), Orthopedie, MUMC+: MA Orthopedie (9), Plastische Chirurgie (PLC), MUMC+: MA Plastische Chirurgie (9) |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Functional impairment Macrodactyly medicine.medical_treatment Mutant lcsh:Surgery Case Report Carpal bones stability 030230 surgery PIK3CA mutation 03 medical and health sciences 0302 clinical medicine medicine neoplasms business.industry Pik3ca mutation lcsh:RD1-811 medicine.disease Dermatology Partial amputation Amputation 030220 oncology & carcinogenesis Surgery Macrodystrophia lipomatosa business |
| Zdroj: | JPRAS Open, 26, 86-90. Elsevier Limited JPRAS Open JPRAS Open, Vol 26, Iss, Pp 86-90 (2020) |
| ISSN: | 2352-5878 |
| DOI: | 10.1016/j.jpra.2020.10.002 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|