Endocrinology, Diabetology and Internal Medicine Unit, Catholic University of the Sacred Heart, Rome, Italy.
Endocrinology Unit, Azienda USL Modena, Modena, Italy.
Front Endocrinol (Lausanne). 2023 Oct 4;14:1243540. doi: 10.3389/fendo.2023.1243540. eCollection 2023.
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.
戈尔茨-高林综合征（Goltz-Gorlin syndrome，GGS），也称为局灶性皮肤发育不良，是一种罕见的 X 连锁疾病，由 PORCN 基因的致病性变异引起，其特征为多种异常，包括皮肤和肢体缺陷、多个器官的乳头瘤、眼部畸形和轻度面部畸形。迄今为止，文献中仅描述了大约 300 例病例。一名 16 岁女性患者，出生时即存在与 GGS 一致的多种先天性畸形，并通过基因检查得到证实，因甲状腺结节就诊于我们的门诊。甲状腺超声显示双侧结节性疾病，右叶有一个 17 毫米的大低回声结节。细针抽吸活检的细胞学检查提示恶性可能。因此，她接受了甲状腺全切除术和右中央区淋巴结清扫术。组织学检查显示甲状腺乳头状癌（PTC）伴淋巴结微转移。进行了放射性碘（131-碘）治疗。在 3 个月和 6 个月的随访中，患者既未出现超声检查也未出现实验室 PTC 复发。据我们所知，我们报告了首例 GGS 患者的 PTC 病例。由于儿童和青少年中甲状腺癌罕见，我们假设 PORCN 致病性变异可能与肿瘤易感性有关。我们还概述了已报道的 GGS 患者的临床发现，并讨论了可能导致这种罕见疾病的潜在发病机制，包括 PORCN 在肿瘤易感性中的作用。
