Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-02-01 DOI:10.1016/j.nmd.2024.105258

Maha Elseed , James N Sampson , Tuomo Polvikoski , Matthew Henderson , Yolande Parkhurst , Marta Bertoli , Marianela Schiava , Robert Muni Lofra , Dionne Moat , Karen Wong , Jassi Michell-Sodhi , Michela Guglieri , Volker Straub , Elizabeth Harris , Chiara Marini-Bettolo

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引用次数: 0

Abstract

Desmoid tumours, also known as aggressive fibromatosis, are rare tumours derived from mesenchymal stem cells, accounting for only 0.03 % of all tumours. While 85–90 % of cases are sporadic, desmoid tumours can occasionally be associated with Gardner syndrome (or Familial Adenomatous Polyposis), which is linked to variants in the tumour suppressor gene, APC (adenomatous polyposis coli) gene on chromosome 5. We describe a paediatric patient with congenital unilateral calf enlargement who was diagnosed as fibromatosis confirmed by muscle biopsy. Genetic workup was unrevealing, and muscle biopsy confirmed the diagnosis of fibromatosis. APC gene mutations were negative in this patient. Fibromatosis is a rare diagnosis which may have implications for the whole family and may present with congenital calf enlargement.

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硬纤维瘤：一种罕见的先天性单侧小腿增大的原因，类似于小腿肥大。

硬纤维瘤，又称侵袭性纤维瘤病，是一种罕见的由间充质干细胞衍生的肿瘤，仅占所有肿瘤的0.03%。虽然85- 90%的病例是散发性的，但硬纤维瘤偶尔会与加德纳综合征（或家族性腺瘤性息肉病）有关，这与5号染色体上的肿瘤抑制基因APC（大肠腺瘤性息肉病）基因的变异有关。我们描述了一个患有先天性单侧小腿肿大的儿科患者，他被肌肉活检确诊为纤维瘤病。基因检查没有发现，肌肉活检证实了纤维瘤病的诊断。该患者APC基因突变为阴性。纤维瘤病是一种罕见的诊断，它可能对整个家庭都有影响，并可能表现为先天性小牛增大。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.