PDF(Pubmed)
Abstract：
Goltz-Gorlin syndrome (GGS), also known as focal dermal hypoplasia, is a rare X-linked disorder caused by pathogenic variants in the PORCN gene and characterized by several abnormalities, including skin and limb defects, papillomas in multiple organs, ocular malformations, and mild facial dysmorphism. To date, only approximately 300 cases have been described in the literature. A 16-year-old female patient, born with multiple congenital dysmorphisms consistent with GGS and confirmed by genetic exam, was referred to our outpatient clinic for the workup of a thyroid nodule. A thyroid ultrasound showed a bilateral nodular disease with a 17-mm large hypoechoic nodule in the right lobe. Cytological exam of fine needle aspiration biopsy was suspicious for malignancy. Thus, she underwent total thyroidectomy plus lymphadenectomy of the right central compartment. A histological exam disclosed a papillary thyroid carcinoma (PTC) with lymph node micrometastases. Radioiodine (131-Iodine) therapy was performed. At 3- and 6-month follow-up, the patient did not present either ultrasound or laboratory PTC recurrence. To our knowledge, we report the first case of PTC in a patient with GGS. Since thyroid cancer is rare among children and adolescents, we hypothesize that the PORCN pathogenic variant could be responsible for tumor susceptibility. We also provide an overview of the clinical findings on GGS patients already reported and discuss the possible pathogenetic mechanism that may underlie this rare condition, including the role of PORCN in tumor susceptibility.
摘要：
戈尔茨-戈林综合征（GGS），也被称为局灶性真皮发育不全，是由PORCN基因的致病变异引起的一种罕见的X连锁疾病，其特征是几种异常，包括皮肤和肢体缺陷,多器官乳头状瘤，眼部畸形,和轻微的面部畸形。迄今为止,文献中只描述了大约300例。一名16岁的女性患者,出生时患有与GGS一致的多种先天性畸形，并通过基因检查证实，被转诊到我们的门诊进行甲状腺结节检查。甲状腺超声检查显示双侧结节性疾病，右叶有17毫米大的低回声结节。细针穿刺活检的细胞学检查可疑为恶性肿瘤。因此，她接受了甲状腺全切除术加右侧中央室淋巴结清扫术.组织学检查显示甲状腺乳头状癌（PTC）伴有淋巴结微转移。进行放射性碘（131-碘）治疗。在3个月和6个月的随访中，患者未出现超声或实验室PTC复发.据我们所知,我们报告了GGS患者中的首例PTC。由于甲状腺癌在儿童和青少年中很少见，我们假设PORCN致病变异可能是肿瘤易感性的原因.我们还对已经报道的GGS患者的临床发现进行了概述，并讨论了可能是这种罕见疾病的潜在致病机制。包括PORCN在肿瘤易感性中的作用。
