Clinical Characteristics of 90 Macrodactyly Cases

Area of Science:

• Medical research
• Genetics
• Congenital deformities

Background:

• Macrodactyly is a rare congenital deformity characterized by digital enlargement affecting all tissue types.
• It can occur independently or as part of broader congenital syndromes.
• Current treatment relies heavily on surgeon expertise due to limited large-scale studies.

Purpose of the Study:

• To retrospectively analyze macrodactyly cases.
• To establish a refined system for diagnosis, classification, and prognosis of macrodactyly.
• To investigate the underlying mechanisms of macrodactyly.

Main Methods:

• Retrospective review of medical records from 90 Chinese macrodactyly patients.
• Inclusion of demographic data, clinical presentations, anatomical distributions, radiographic findings, pathological results, and treatment histories.
• Genetic analysis, specifically PIK3CA mutation testing, was performed on 12 patients.

Main Results:

• Macrodactyly showed no significant difference in incidence across sexes or geographical regions.
• Multiple-digit involvement was more common than single-digit involvement (2.6:1 ratio).
• The index finger, middle finger, and thumb were most frequently affected, often adjacent digits. 79% of cases involved median nerve distribution with nerve enlargement and fat infiltration. 10 out of 12 patients tested positive for PIK3CA mutations.

Conclusions:

• Macrodactyly is a heterogeneous condition with no strong sex or geographical predilection, typically present at birth.
• The high prevalence of PIK3CA mutations in affected tissues indicates a shared cellular mechanism for overgrowth across diverse clinical presentations.
• Further research into genetic factors and standardized classification is warranted.