Resident PG2 Internal Medicine, Los Angeles, California, USA.
Am J Clin Dermatol. 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000.
Gardner syndrome is a variant of familial adenomatous polyposis (FAP) and results in the manifestation of numerous external and internal symptoms including gastrointestinal polyps, osteomas, tumors, and epidermoid cysts. As such, it is highly recommended that physicians conduct full body examinations to catch the key clinical features of the disease when it is suspected. Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from other differential diagnoses such as Turcot syndrome, FAP, and other attenuated forms of familial polyposis. Fortunately, Gardner syndrome has characteristic polyps in the colon, osteomas, and also exhibits abnormalities in the retinal epithelium that discern it from others. Surgery is the most effective method of management for Gardner syndrome; restorative proctocolectomy with ileal pouch anal anastomosis with mucosectomy is the top choice for colonic malignancies, and skin manifestations can be treated through a variety of excisions and therapy depending on location, size, and number of malignancies. Currently, there are no specific screening recommendations for Gardner syndrome, but testing following general screening recommendations for extra-colonic malignancies, genetic counseling, and endoscopy are encouraged.
Gardner 综合征是家族性腺瘤性息肉病（FAP）的一种变体，会表现出许多外部和内部症状，包括胃肠道息肉、骨瘤、肿瘤和表皮样囊肿。因此，当怀疑患有这种疾病时，医生强烈建议进行全身检查以捕捉疾病的关键临床特征。Gardner 综合征源于腺瘤性结肠息肉病（APC）基因的突变，与 FAP 表型具有遗传相关性；因此，医生能够将 Gardner 综合征与其他鉴别诊断（如 Turcot 综合征、FAP 和其他家族性息肉病的轻微形式）区分开来变得尤为重要。幸运的是，Gardner 综合征在结肠中有特征性的息肉、骨瘤，并且视网膜上皮也存在异常，使其与其他疾病区分开来。手术是 Gardner 综合征最有效的治疗方法；对于结肠恶性肿瘤，首选带有黏膜切除术的直肠结肠切除术和回肠袋肛管吻合术，皮肤表现可根据位置、大小和数量的恶性肿瘤通过各种切除和治疗进行治疗。目前，Gardner 综合征没有特定的筛查建议，但鼓励根据一般的结外恶性肿瘤筛查建议、遗传咨询和内镜检查进行检测。
