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Published on: July 12, 2019
The long-term progression of macrodactyly
Merel L E Stor1, Max M Lokhorst1, Sophie E R Horbach1
1Department of Plastic, Reconstructive and Hand Surgery, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
Macrodactyly, a rare overgrowth disorder, can progress in adulthood even after childhood surgery. This may lead to severe bone changes and functional issues, necessitating long-term monitoring.
Area of Science:
- Orthopedics
- Congenital Disorders
- Medical Genetics
Background:
- Macrodactyly is a rare congenital overgrowth disorder affecting limb digits.
- Current treatment focuses on childhood surgical intervention, lacking standardized adult follow-up guidelines.
Purpose of the Study:
- To analyze the long-term progression of macrodactyly in adulthood.
- To highlight clinical features and disease course in adult patients.
Main Methods:
- Retrospective, descriptive analysis of adult macrodactyly patients.
- Screening of a local database for long-term progression since adulthood.
Main Results:
- All surgically treated patients exhibited continued tissue overgrowth in adulthood.
- Severe secondary degenerative bone changes (ankylosis, new bone formation) developed in affected digits.
- Combined overgrowth and bone changes resulted in significant functional impairment.
Conclusions:
- Macrodactyly can progress in adulthood, leading to deforming changes.
- Patients require informed consent regarding potential adult growth.
- Regular monitoring for progressive growth in adult macrodactyly patients is recommended.
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