Stor Merel L E, Lokhorst Max M, Horbach Sophie E R, van der Horst Chantal M A M
Department of Plastic, Reconstructive and Hand Surgery, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
JPRAS Open. 2021 Oct 23;31:10-21. doi: 10.1016/j.jpra.2021.10.004. eCollection 2022 Mar.
Macrodactyly is a rare congenital disorder of overgrowth affecting the digits of the upper or lower extremity. Mostly, patients are surgically treated during childhood to reduce the digit or to stop growth. There are no standardized guidelines for the treatment and follow-up of macrodactyly. Consequently, follow-up may not be regularly scheduled into adulthood.
A retrospective, descriptive analysis of patients with the long-term progression of macrodactyly who presented at our tertiary referral hospital between July 2018 and March 2020 was performed. All patients from our local macrodactyly database were screened for progression of macrodactyly since adulthood; this resulted in four patients. The aim of these case series is to highlight the clinical features and disease course at long-term follow-up.
All patients were surgically treated during childhood and showed progression of tissue overgrowth during adult life. All patients developed severe secondary degenerative bone changes in macrodactyly affected digits, such as ankyloses of joints, new bone formation, and bony spurs. Subsequently, tissue overgrowth and degenerative bone changes led to functional problems.
Patients with macrodactyly may experience growth during adult life, which may progress to deforming changes. Consequently, patients should be informed about the possible growth, and the progressive growth should be monitored.
巨指（趾）症是一种罕见的先天性过度生长疾病，影响上肢或下肢的指（趾）。大多数患者在儿童期接受手术治疗以缩小指（趾）或阻止其生长。目前尚无针对巨指（趾）症治疗和随访的标准化指南。因此，随访可能不会定期安排至成年期。
对2018年7月至2020年3月在我们三级转诊医院就诊的巨指（趾）症长期进展患者进行回顾性描述性分析。从我们当地的巨指（趾）症数据库中筛选出所有成年后巨指（趾）症进展的患者；最终有4例患者。这些病例系列的目的是突出长期随访中的临床特征和疾病进程。
所有患者均在儿童期接受了手术治疗，并在成年后出现组织过度生长的进展。所有患者在巨指（趾）症受累的指（趾）中均出现严重的继发性退行性骨改变，如关节强直、新骨形成和骨赘。随后，组织过度生长和退行性骨改变导致功能问题。
巨指（趾）症患者在成年期可能会出现生长，且可能进展为变形改变。因此，应告知患者可能的生长情况，并对渐进性生长进行监测。
