Schäfer Mattias, Kadmon Martina, Schmidt Wolfgang, Treiber Irmgard, Moog Ute, Sutter Christian, Stehr Maximilian
Department of Pediatric Surgery and Urology, Cnopfsche Kinderklinik, Nürnberg, Germany.
Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.
European J Pediatr Surg Rep. 2016 Dec;4(1):17-21. doi: 10.1055/s-0036-1582443. Epub 2016 May 13.
Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated with gene mutations and therefore with familial adenomatous polyposis (FAP). So far there is only very limited literature on GF in the neonatal period. We present two children with GF diagnosed at birth and subsequent FAP with very different clinical courses. In one case, the disease led to extensive surgery of the thoracic wall and detection of FAP in the father with the need of immediate proctocolectomy. In the other patient (with a positive family history for FAP) the disease remained stable. Our cases indicate that the diagnosis of GF in the neonatal period requires the exclusion of FAP both in the child as well as the parents. Since the clinical behavior of GF cannot be predicted, continuous monitoring is mandatory. Depending on tumor site and growth, individual therapeutic options must be thoroughly considered. Surgical resection, if necessary, has to be inevitably total to prevent recurrence.
加德纳纤维瘤(GFs)直到最近才被描述为边界不清的肿瘤样病变,在儿童中极为罕见。GFs与基因突变相关,因此与家族性腺瘤性息肉病(FAP)有关。到目前为止,关于新生儿期GF的文献非常有限。我们报告了两名出生时被诊断为GF并随后发生FAP的儿童,其临床病程截然不同。在一个病例中,疾病导致胸壁广泛手术,并在父亲身上检测到FAP,需要立即进行直肠结肠切除术。在另一名患者(有FAP家族史)中,病情保持稳定。我们的病例表明,新生儿期GF的诊断需要排除患儿及其父母的FAP。由于GF的临床行为无法预测,必须进行持续监测。根据肿瘤部位和生长情况,必须充分考虑个体化的治疗选择。如有必要,手术切除必须彻底,以防止复发。