{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T10:35:41Z","timestamp":1760524541301,"version":"3.41.2"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T00:00:00Z","timestamp":1696377600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Goltz\u2013Gorlin 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.<\/jats:p>","DOI":"10.3389\/fendo.2023.1243540","type":"journal-article","created":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T09:48:15Z","timestamp":1696412895000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case Report: Papillary thyroid carcinoma in Goltz\u2013Gorlin syndrome"],"prefix":"10.3389","volume":"14","author":[{"given":"Flavia","family":"Costanza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampaolo","family":"Papi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Corrado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Pontecorvi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,10,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1001\/archderm.101.1.1","article-title":"Focal dermal hypoplasia syndrome","volume":"101","author":"Goltz","year":"1970","journal-title":"Arch Dermatol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61051","article-title":"Growth failure in focal dermal hypoplasia","volume":"179","author":"Hsu","year":"2019","journal-title":"Am J Med Genet A."},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31469","article-title":"Goltz syndrome and PORCN: A view from Europe","volume":"172","author":"Happle","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B4","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1002\/ajmg.c.31473","article-title":"Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals","volume":"172","author":"Bostwick","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35964","article-title":"Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly","author":"Garavelli","year":"2013","journal-title":"Am J Med Genet A."},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1038\/nature03319","article-title":"Wnt signalling in stem cells and cancer","volume":"434","author":"Reya","year":"2005","journal-title":"Nat"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1549","DOI":"10.3390\/ijms22041549","article-title":"De novo PORCN and ZIC2 mutations in a highly consanguineous family","volume":"22","author":"Castilla-Vallmanya","year":"2021","journal-title":"Int J Mol Sci"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-18-2757","article-title":"Carraway KL 3rd. 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