PDF(Pubmed)
Abstract：
Proteus syndrome (PS) is an exceptionally uncommon genetic disorder that has been documented in only approximately 250 cases in the literature spanning the past four decades. It is characterized by a disproportionate, asymmetric overgrowth of all types of tissues, provoked by a somatic activating mutation in serine/threonine protein kinase 1. We report a case of PS in a two-year-old female patient with the following clinical features: unilateral overgrowth of connective tissue in the right buttock and right foot, where multiple surgeries were performed to achieve a desirable aesthetic outcome and ensure psychological comfort of the young patient. The insights provided by this case underscore the pivotal role of obtaining pleasing aesthetic outcomes in the surgical management of untreatable genetic disorders, with the aim of nurturing psychological contentment in affected children.
摘要：
变形杆菌综合征（PS）是一种非常罕见的遗传性疾病，在过去四十年的文献中，仅在大约250例病例中被记录。它的特点是不成比例的，所有类型组织的不对称过度生长，由丝氨酸/苏氨酸蛋白激酶1的体细胞激活突变引起。我们报告了一名两岁女性患者的PS病例，其临床特征如下：右臀部和右脚的结缔组织单侧过度生长，进行多次手术以获得理想的美学结果并确保年轻患者的心理舒适。该案例提供的见解强调了在无法治愈的遗传疾病的手术治疗中获得令人愉悦的美学结果的关键作用。目的是培养受影响儿童的心理满足感。
