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Presentation and treatment of macrodactyly in children
Felecia Cerrato1, Kyle R Eberlin, Peter Waters
1Departments of Plastic and Oral Surgery, Orthopedic Surgery, and Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Surgery, Harvard Medical School, Boston, MA.
Insights
Congenital macrodactyly in children involves isolated digit overgrowth, often requiring multiple surgical reconstructions for improved function and aesthetics. While challenging, these procedures are generally well-tolerated, offering functional benefits despite not achieving a normal digit.
Area of Science:
- Pediatric Orthopedics
- Hand Surgery
- Congenital Malformations
Background:
- Macrodactyly is a rare congenital condition characterized by the overgrowth of one or more digits.
- Isolated macrodactyly affects all tissue types within the digit, presenting unique challenges in management.
- Understanding the varied clinical presentations and natural history is crucial for effective treatment planning.
Purpose of the Study:
- To characterize the clinical presentation of isolated congenital macrodactyly of the hand in children.
- To detail the treatment strategies employed for this condition.
- To evaluate the early outcomes of surgical interventions for pediatric macrodactyly.
Main Methods:
- Retrospective chart review of 21 pediatric patients with isolated macrodactyly over 15 years.
- Data collection included clinical presentation, surgical procedures, and patient outcomes.
- Classification of macrodactyly into nerve territory-oriented and lipomatous types.
Main Results:
- The middle finger was most commonly affected, with most patients presenting with multiple affected digits.
- Progressive overgrowth was observed in 67% of patients.
- A mean of 3.2 staged corrective operations were performed, including soft tissue debulking, ostectomy, and osteotomy, with no major complications reported.
Conclusions:
- Congenital macrodactyly diagnosis requires isolated digit overgrowth affecting all tissue types, though presentation varies.
- Surgical reconstruction, while requiring multiple operations, is preferred over amputation and offers functional and aesthetic improvements.
- Further long-term outcome studies and research into the disorder's biology are needed for optimized treatment decisions.
Purpose:
To characterize the presentation, treatment, and early outcomes of children with isolated congenital macrodactyly of the hand.
Methods:
We performed a retrospective chart review of isolated hand macrodactyly cases treated at our institution over a 15-year period. Data on clinical presentation, procedure details, and outcomes were collected.
Results:
A total of 21 patients, 8 boys and 13 girls, were identified. Patients had a mean of 1.8 affected digits (median, 2; range, 1-3); most (n = 12; 57%) presented with multiple affected digits. The middle finger was most commonly affected (67%). Most patients had progressive overgrowth (n = 13; 67%). Twelve patients (57%) had nerve territory-oriented macrodactyly, whereas 9 (43%) presented with lipomatous type. There were no differences between the types of macrodactyly in sex, affected side, rate of growth, digits affected, or number of procedures. Patients underwent a mean of 3.2 staged corrective operations (median, 2; range, 1-12), including soft tissue debulking (n = 19 patients; 90%), ostectomy for volume reduction or partial amputation (n = 9; 43%), closing wedge osteotomy (n = 11; 52%), epiphysiodesis (n = 7; 33%), digit transfer (n = 3; 14%), toe transfer (n = 1; 5%), and ray amputation (n = 6; 29%). Patients with progressive growth underwent more procedures than patients with static growth. No major complications were reported.
Conclusions:
The diagnosis of macrodactyly should be reserved for patients with isolated congenital digit overgrowth affecting all tissue types, but clinical presentation and natural history of macrodactyly can vary greatly among patients. A variety of surgical techniques exist to reconstruct rather than amputate affected digits primarily. Although reconstruction will not result in a normal digit and requires multiple operations, our observations suggest that they are well tolerated and may offer some restored function and aesthetics. More long-term outcomes and insight into the biological basis of this disorder are needed to make better-informed treatment decisions.
Type Of Study/Level Of Evidence:
Therapeutic IV.
