巨指症的治疗方法：一例病例报告及综合征型和孤立型的诊断算法
Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.
作者信息
Kyriakidis Ioannis, Pelagiadis Iordanis, Katzilakis Nikolaos, Stiakaki Eftichia
机构信息
Department of Pediatric Hematology-Oncology & Autologous Hematopoietic Stem Cell Transplantation Unit, University Hospital of Heraklion & Laboratory of Blood Diseases and Childhood Cancer Biology, School of Medicine, University of Crete, 71003 Heraklion, Greece.
出版信息
Pediatr Rep. 2025 Mar 7;17(2):32. doi: 10.3390/pediatric17020032.
BACKGROUND
Macrodactyly (megalodactyly or digital gigantism) is a rare condition of overgrowth affecting one or more fingers or toes.
METHODS
We report a case of a 16-year-old Caucasian male with macrodactyly, lipomas, nevi, dysmorphic features, and autism. The clinical suspicion for a Proteus-like syndrome was high.
RESULTS
Targeted , , and sequencing for the affected tissue was negative. Subsequent genetic testing revealed a 16p11.2 duplication along with a heterozygous pathogenic variant in (not causally associated with digit malformation).
CONCLUSIONS
The clinical management of syndromic macrodactyly is well described by consensus guidelines, but isolated macrodactyly also needs pediatricians' attention and warrants a multidisciplinary approach. After reviewing the literature, a diagnostic algorithm for the approach and differential diagnosis of macrodactyly is provided. Phenotypes associated with PI3K/AKT/mTOR pathway mutations (including PIK3CA-related overgrowth spectrum PROS) are described. Late effects, follow-up schedules, and surveillance for cancer are discussed.
背景
巨指（趾）症（多指（趾）肥大症或指（趾）巨大症）是一种罕见的过度生长疾病，影响一个或多个手指或脚趾。
方法
我们报告一例16岁的患有巨指（趾）症、脂肪瘤、痣、畸形特征和自闭症的白种男性病例。临床高度怀疑为类变形杆菌综合征。
结果
对受影响组织进行靶向测序均为阴性。随后的基因检测显示16p11.2重复以及基因中的杂合致病变异（与指（趾）畸形无因果关系）。
结论
综合征性巨指（趾）症的临床管理已由共识指南详细描述，但孤立性巨指（趾）症也需要儿科医生关注并采用多学科方法。在回顾文献后，提供了巨指（趾）症的诊断算法及鉴别诊断方法。描述了与PI3K/AKT/mTOR通路突变相关的表型（包括PIK3CA相关过度生长谱系PROS）。讨论了晚期影响、随访计划和癌症监测。
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