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Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour

We report a case of a 54-year-old man who developed an atypical systemic syndrome involving Raynaud’s phenomenon, pulmonary fibrosis and skin thickening. These features were initially suggestive of newly diagnosed scleroderma. However, he displayed atypical clinical features of same, antinuclear ant...

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Autores principales: Butt, Zaran Ahmad, Ng, Wan Lin, Osman, Kamal, Howard, Donough
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934738/
https://www.ncbi.nlm.nih.gov/pubmed/33664035
http://dx.doi.org/10.1136/bcr-2020-240211
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author Butt, Zaran Ahmad
Ng, Wan Lin
Osman, Kamal
Howard, Donough
author_facet Butt, Zaran Ahmad
Ng, Wan Lin
Osman, Kamal
Howard, Donough
author_sort Butt, Zaran Ahmad
collection PubMed
description We report a case of a 54-year-old man who developed an atypical systemic syndrome involving Raynaud’s phenomenon, pulmonary fibrosis and skin thickening. These features were initially suggestive of newly diagnosed scleroderma. However, he displayed atypical clinical features of same, antinuclear antibody was negative and symptoms were refractory to various immunosuppressive therapies. CT imaging revealed a gastric mass, which later proved to be a gastrointestinal stromal tumour (GIST). Resection of the GIST leads to minimal symptomatic improvement. Surveillance imaging 1 year later revealed metastatic deposits. He was subsequently initiated on imatinib therapy, which led to a rapid improvement in fibrotic changes within weeks. While there have been previous descriptions of paraneoplastic fibrotic disorders, this is the first description of a scleroderma mimic in the setting of a GIST. It highlights an important potential overlap in the pathogenesis of these disease processes and the potential efficacy of tyrosine kinase inhibitors for scleroderma-like fibrotic disorders.
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spelling pubmed-79347382021-03-19 Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour Butt, Zaran Ahmad Ng, Wan Lin Osman, Kamal Howard, Donough BMJ Case Rep Case Report We report a case of a 54-year-old man who developed an atypical systemic syndrome involving Raynaud’s phenomenon, pulmonary fibrosis and skin thickening. These features were initially suggestive of newly diagnosed scleroderma. However, he displayed atypical clinical features of same, antinuclear antibody was negative and symptoms were refractory to various immunosuppressive therapies. CT imaging revealed a gastric mass, which later proved to be a gastrointestinal stromal tumour (GIST). Resection of the GIST leads to minimal symptomatic improvement. Surveillance imaging 1 year later revealed metastatic deposits. He was subsequently initiated on imatinib therapy, which led to a rapid improvement in fibrotic changes within weeks. While there have been previous descriptions of paraneoplastic fibrotic disorders, this is the first description of a scleroderma mimic in the setting of a GIST. It highlights an important potential overlap in the pathogenesis of these disease processes and the potential efficacy of tyrosine kinase inhibitors for scleroderma-like fibrotic disorders. BMJ Publishing Group 2021-03-04 /pmc/articles/PMC7934738/ /pubmed/33664035 http://dx.doi.org/10.1136/bcr-2020-240211 Text en © BMJ Publishing Group Limited 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Case Report
Butt, Zaran Ahmad
Ng, Wan Lin
Osman, Kamal
Howard, Donough
Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour
title Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour
title_full Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour
title_fullStr Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour
title_full_unstemmed Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour
title_short Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour
title_sort novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934738/
https://www.ncbi.nlm.nih.gov/pubmed/33664035
http://dx.doi.org/10.1136/bcr-2020-240211
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