描述Simpson-Golabi-Behmel综合征是一种罕见的,与编码磷脂酰肌醇蛋白聚糖3(GPC3)基因突变相关的X连锁隐性综合征。大多数病例是在儿科男性中描述的,受影响的人表现出过度生长的表现,先天性心脏缺陷,和肿瘤的发病率增加。由于这种疾病的X连锁性质,在女性案件中,外显率不是很清楚。很少有女性表现为辛普森-Golabi-Behmel综合征的病例被描述,这个案例强调了突变的GPC3携带者状态与其他癌症之间可能存在关联。我们介绍了一例GPC3基因突变,提示成年女性患者的Simpson-Golabi-Behmel综合征,根据皮脂腺癌的诊断进行基因检测诊断。
Description Simpson-Golabi-Behmel syndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmel syndrome have been described, and this
case highlights that there may be an association between mutated GPC3 carrier status and other cancers. We present a
case of GPC3 gene mutation suggestive of Simpson-Golabi-Behmel syndrome in an adult female patient, diagnosed based on genetic testing performed due to a diagnosis of sebaceous carcinoma.