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Late-Onset Reactivation of Hand Macrodactyly in a Septuagenarian
Gayle Krystle Grey1, Keiichi Muramatsu1, Yo Morita1
1Department of Orthopedic Surgery, Nagato General Hospital, Yamaguchi, Japan.
Abstract:
Hand macrodactyly is a rare congenital deformity within the PIK3CA-related overgrowth spectrum, diagnosed typically during the paediatric age group. We present a unique case of late-onset reactivation in a 70-year-old female, the oldest surgically managed patient reported to date. After decades of quiescence, the patient experienced rapid progressive digital enlargement, stiffness and interdigital fungal infection. Diving deeper into the pathophysiology of the disease, we discuss paediatric versus adult manifestations, the molecular basis of disease persistence and treatment pathways that have an influence on the unique reactivation phenomenon that happened in our patient. We also discussed treatment recommendations covering this special age group and how it should differ from the usual paediatric treatment regimen. Level of Evidence: Level V (Therapeutic).