Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome (RTS) is an exceedingly infrequent genetic disorder characterized by a multitude of skin findings collectively known as poikiloderma. In normal cells, the RECQL4 gene is involved in DNA replication and repair. RTS is caused by a mutation in the RECQL4 gene, which results in...

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Autores principales: Ali, Zeeshan, Manaktala, Pritika S, Sarkisian, Saro, Rizvi, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Dermatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7781574/
https://www.ncbi.nlm.nih.gov/pubmed/33409099
http://dx.doi.org/10.7759/cureus.11865
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author Ali, Zeeshan
Manaktala, Pritika S
Sarkisian, Saro
Rizvi, Muhammad
author_facet Ali, Zeeshan
Manaktala, Pritika S
Sarkisian, Saro
Rizvi, Muhammad
author_sort Ali, Zeeshan
collection PubMed
description Rothmund-Thomson syndrome (RTS) is an exceedingly infrequent genetic disorder characterized by a multitude of skin findings collectively known as poikiloderma. In normal cells, the RECQL4 gene is involved in DNA replication and repair. RTS is caused by a mutation in the RECQL4 gene, which results in increased predilection to develop various malignancies. Osteosarcomas and skin cancers are typically associated with this syndrome. We present a rare case of signet-ring cell gastric adenocarcinoma in a patient with RTS.
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spelling pubmed-77815742021-01-05 Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome Ali, Zeeshan Manaktala, Pritika S Sarkisian, Saro Rizvi, Muhammad Cureus Dermatology Rothmund-Thomson syndrome (RTS) is an exceedingly infrequent genetic disorder characterized by a multitude of skin findings collectively known as poikiloderma. In normal cells, the RECQL4 gene is involved in DNA replication and repair. RTS is caused by a mutation in the RECQL4 gene, which results in increased predilection to develop various malignancies. Osteosarcomas and skin cancers are typically associated with this syndrome. We present a rare case of signet-ring cell gastric adenocarcinoma in a patient with RTS. Cureus 2020-12-03 /pmc/articles/PMC7781574/ /pubmed/33409099 http://dx.doi.org/10.7759/cureus.11865 Text en Copyright © 2020, Ali et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Ali, Zeeshan
Manaktala, Pritika S
Sarkisian, Saro
Rizvi, Muhammad
Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
title Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
title_full Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
title_fullStr Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
title_full_unstemmed Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
title_short Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
title_sort rare presentation of a rare disease: signet-ring cell gastric adenocarcinoma in rothmund-thomson syndrome
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7781574/
https://www.ncbi.nlm.nih.gov/pubmed/33409099
http://dx.doi.org/10.7759/cureus.11865
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