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Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome
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 dysmorphis...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582693/ https://www.ncbi.nlm.nih.gov/pubmed/37859990 http://dx.doi.org/10.3389/fendo.2023.1243540 |
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author | Costanza, Flavia Papi, Giampaolo Corrado, Stefania Pontecorvi, Alfredo |
author_facet | Costanza, Flavia Papi, Giampaolo Corrado, Stefania Pontecorvi, Alfredo |
author_sort | Costanza, Flavia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10582693 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-105826932023-10-19 Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome Costanza, Flavia Papi, Giampaolo Corrado, Stefania Pontecorvi, Alfredo Front Endocrinol (Lausanne) Endocrinology 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. Frontiers Media S.A. 2023-10-04 /pmc/articles/PMC10582693/ /pubmed/37859990 http://dx.doi.org/10.3389/fendo.2023.1243540 Text en Copyright © 2023 Costanza, Papi, Corrado and Pontecorvi https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology Costanza, Flavia Papi, Giampaolo Corrado, Stefania Pontecorvi, Alfredo Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome |
title | Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome |
title_full | Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome |
title_fullStr | Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome |
title_full_unstemmed | Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome |
title_short | Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome |
title_sort | case report: papillary thyroid carcinoma in goltz–gorlin syndrome |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582693/ https://www.ncbi.nlm.nih.gov/pubmed/37859990 http://dx.doi.org/10.3389/fendo.2023.1243540 |
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