Mullins Tessa, Russell Abigail, Johnston Chad
LewisGale Hospital Montgomery, Blacksburg, VA.
HCA Healthc J Med. 2020 Dec 29;1(6):481-483. doi: 10.36518/2689-0216.1058. eCollection 2020.
Description Simpson-Golabi-Behmel syndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (). 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 carrier status and other cancers. We present a case of 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.
辛普森-戈拉比-贝梅尔综合征是一种罕见的X连锁隐性综合征，与编码磷脂酰肌醇蛋白聚糖3（）的基因突变有关。大多数病例在儿科男性中被描述，患者表现出过度生长、先天性心脏缺陷以及肿瘤发生率增加。由于该疾病的X连锁性质，女性病例的外显率尚不清楚。辛普森-戈拉比-贝梅尔综合征女性病例的描述非常少，该病例突出表明突变携带者状态与其他癌症之间可能存在关联。我们报告一例成年女性患者，基于因皮脂腺癌诊断而进行的基因检测，提示存在辛普森-戈拉比-贝梅尔综合征的基因突变。
