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Congenital Difference of the Hand and Foot: Pediatric Macrodactyly.
Xiao Fang Shen1, Konstantinos Gasteratos2, Georgia-Alexandra Spyropoulou2, Peter Waters3, Yong Jun Rui4 1. Department of Orthopaedic Surgery, Children's Hospital of Soochow University, China. 2. Department of Plastic and Reconstructive Surgery, Papageorgiou General Hospital of Thessaloniki, Greece. 3. Department of Orthopaedic Surgery, Children's Hospital Boston, Harvard Medical School, MA, USA. 4. Department of Hand Surgery, Wuxi Ninth People's Hospital, Affiliated to Soochow University, Wuxi, China.

Background: Macrodactyly is a rare congenital condition which is characterized by increase in the size of soft tissue and/ or bone of one or more digits or toes or parts of the body. The deformity may cause functional deficit and psychological distress to the patient and the family. The pathogenesis of macrodactyly relates the condition to a somatic mutation in PIK3CA, the nerve territory–oriented macrodactyly (NTOM) mechanism, neurofibromatosis and other syndromes. A major intraoperative finding of the affected tissues is the lipofibromatosis, primarily involving peripheral nerves and subcutaneous fat. Compressive neuropathies (e.g. carpal tunnel syndrome) may develop, requiring surgical release (figure). A thorough preoperative investigation for concomitant diseases should be performed by the multidisciplinary team. Debulking should be performed only on one side of the affected digit/ toe to avoid the possibility of injury to both neurovascular bundles and consequent skin necrosis. Other surgical options include terminalization, epiphysiodesis, Barsky's and Tsuge's procedure. In our study, we aim to help the reader: 1. Diagnose macrodactyly of the hand and foot based on patient's pertinent history, objective findings on physical examination, and radiographic changes, 2. Recall the etiology, epidemiology and classification of macrodactyly, 3. Understand the multifaceted clinical presentation of macrodactyly and investigate for the presence of associated conditions, 4. Involve the multidisciplinary team early in the management of macrodactyly patients, 5. Obtain thorough informed consent from patient or parent/ guardian, 6. Comprehend the indications for surgical treatment, the potential complications, and the expected outcomes.

Methods: We collected and analyzed 13 cases of hand (n=5) and foot macrodactyly (n=8). We present the epidemiology, classification, pathogenesis, clinical and radiographic features, surgical options, and outcomes for macrodactyly from our experience (X.F.S., Y.J.R.).

Results: Our patients cover a wide range of macrodactyly severities and phenotypes affecting digits, toes, and/or body parts. One of our patients had Proteus syndrome and another one neurofibromatosis type I. The outcomes were excellent and the long-term follow-up ranged from four to six years. A description of these patients with demographics, underlying pathology, treatment, and outcomes are listed in the table.

Conclusion: Macrodactyly is a rare condition which requires surgical experience and individualized approach. Surgery improves the appearance but not cure macrodactyly. The physicians should be aware of the underlying associated pathologies. Treatment is primarily surgical, however efforts are being made to delineate the root cause of macrodactyly and provide nonoperative management.

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