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Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature
BACKGROUND: Generalized lymphatic anomaly previously known as diffuse systemic lymphangiomatosis is a rare multisystem congenital disease arising from the lymphatic system, and it is characterized by abnormal proliferation of the lymphatic channels in osseous and extraosseous tissues. It typically a...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353871/ https://www.ncbi.nlm.nih.gov/pubmed/34372919 http://dx.doi.org/10.1186/s13256-021-02953-9 |
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author | Liu, Tao Basseri, Sana Mussari, Ben DaBreo, Dominique SenGupta, Sandip Villalobos, Dalila Awad, Sara |
author_facet | Liu, Tao Basseri, Sana Mussari, Ben DaBreo, Dominique SenGupta, Sandip Villalobos, Dalila Awad, Sara |
author_sort | Liu, Tao |
collection | PubMed |
description | BACKGROUND: Generalized lymphatic anomaly previously known as diffuse systemic lymphangiomatosis is a rare multisystem congenital disease arising from the lymphatic system, and it is characterized by abnormal proliferation of the lymphatic channels in osseous and extraosseous tissues. It typically affects children or young adults. Although it is benign, it can be misdiagnosed as malignancy because of its diffuse and debilitating nature depending on the site of involvement. Due to its rarity, diagnosis is often delayed, leading to potential significant morbidity or mortality if vital organs are involved. Furthermore, its potential for multiorgan involvement with no curative treatment makes its management challenging. CASE PRESENTATION: We describe a case of a 35-year-old Caucasian female, who presented with epigastric pain and was subsequently extensively investigated at multiple tertiary centers by numerous specialists for query malignancy and metabolic bone disorder following incidental computed tomography imaging findings of multiple osteolytic lesions in the axial skeleton, and low-attenuating lesions in the axilla, spleen, and mediastinum. The diagnosis was confirmed with an axillary excisional biopsy. She was clinically stable with no end organ damage. She was monitored conservatively. CONCLUSIONS: The case illustrates the importance of increased awareness among clinicians for this rare congenital disease to enable earlier diagnosis and to avoid unnecessary invasive investigations. Furthermore, this case highlights the potential need for multiple biopsies of affected sites to confirm diagnosis. We also discuss the emergence of interferon therapy, chemotherapy, immunosuppression, and immunotherapy as medical management for this condition. |
format | Online Article Text |
id | pubmed-8353871 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-83538712021-08-11 Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature Liu, Tao Basseri, Sana Mussari, Ben DaBreo, Dominique SenGupta, Sandip Villalobos, Dalila Awad, Sara J Med Case Rep Case Report BACKGROUND: Generalized lymphatic anomaly previously known as diffuse systemic lymphangiomatosis is a rare multisystem congenital disease arising from the lymphatic system, and it is characterized by abnormal proliferation of the lymphatic channels in osseous and extraosseous tissues. It typically affects children or young adults. Although it is benign, it can be misdiagnosed as malignancy because of its diffuse and debilitating nature depending on the site of involvement. Due to its rarity, diagnosis is often delayed, leading to potential significant morbidity or mortality if vital organs are involved. Furthermore, its potential for multiorgan involvement with no curative treatment makes its management challenging. CASE PRESENTATION: We describe a case of a 35-year-old Caucasian female, who presented with epigastric pain and was subsequently extensively investigated at multiple tertiary centers by numerous specialists for query malignancy and metabolic bone disorder following incidental computed tomography imaging findings of multiple osteolytic lesions in the axial skeleton, and low-attenuating lesions in the axilla, spleen, and mediastinum. The diagnosis was confirmed with an axillary excisional biopsy. She was clinically stable with no end organ damage. She was monitored conservatively. CONCLUSIONS: The case illustrates the importance of increased awareness among clinicians for this rare congenital disease to enable earlier diagnosis and to avoid unnecessary invasive investigations. Furthermore, this case highlights the potential need for multiple biopsies of affected sites to confirm diagnosis. We also discuss the emergence of interferon therapy, chemotherapy, immunosuppression, and immunotherapy as medical management for this condition. BioMed Central 2021-08-10 /pmc/articles/PMC8353871/ /pubmed/34372919 http://dx.doi.org/10.1186/s13256-021-02953-9 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Liu, Tao Basseri, Sana Mussari, Ben DaBreo, Dominique SenGupta, Sandip Villalobos, Dalila Awad, Sara Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature |
title | Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature |
title_full | Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature |
title_fullStr | Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature |
title_full_unstemmed | Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature |
title_short | Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature |
title_sort | generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353871/ https://www.ncbi.nlm.nih.gov/pubmed/34372919 http://dx.doi.org/10.1186/s13256-021-02953-9 |
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