Summary
Background
Macrodactyly is a very rare congenital difference that affects hands and feet with
significant developmental and psychological implications. Macrodactyly is attributed
to a somatic mutation in PIK3CA, a component of the mTOR pathway-related overgrowth
disorders. Other medical conditions have been associated with macrodactyly (e.g.,
neurofibromatosis and Proteus syndrome). A thorough investigation of the presence
of these conditions should be undertaken by the multidisciplinary team.
The aim of this study is to summarize the main clinical characteristics and associated
conditions, with an emphasis on diagnosis and surgical treatment options.
Materials and Methods
We present several clinical cases after a retrospective chart review of macrodactyly
cases and a comprehensive literature review.
Results
The indications for surgery include peripheral compressive neuropathies (e.g., carpal
tunnel syndrome), grotesque enlargement interfering with function, psychosocial distress
due to the deformity, and macrodystrophic lipomatosis with proximal upper limb involvement.
The main surgical treatment options are categorized as follows: digit reduction (e.g.,
soft tissue debulking, skeletal shortening/ terminalization, Barsky procedure, and
Tsuge technique), limitation of growth (digital nerve stripping and epiphysiodesis),
and correction of deviation (wedge or angulation osteotomy, arthrodesis, Millesi procedure
for thumb macrodactyly correction, toe-to-hand transfer, ray resection, and combination
of bony reduction and soft tissue debulking).
Conclusions
Macrodactyly correction requires surgical experience and an individualized approach.
Treatment is primarily surgical; however, efforts are being made to delineate the
root cause of macrodactyly and provide nonoperative management.
Keywords
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Article info
Publication history
Published online: July 26, 2022
Accepted:
June 10,
2022
Received:
June 1,
2021
Identification
Copyright
© 2022 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
