Presentation and treatment of macrodactyly in children.

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.