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Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature
Erdheim-Chester disease (ECD) is an extremely rare and aggressive form of non-Langerhans cell histiocytosis. ECD usually presents with bone pain in adults aged 40–60. Its etiology is unknown but it is thought to be either a reactive or neoplastic disorder. Recently, mutation of the proto-oncogene BR...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498947/ https://www.ncbi.nlm.nih.gov/pubmed/28690524 http://dx.doi.org/10.1159/000477336 |
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author | Alotaibi, Sultan Alhafi, Osama Nasr, Hatem Eltayeb, Khalid Elyamany, Ghaleb |
author_facet | Alotaibi, Sultan Alhafi, Osama Nasr, Hatem Eltayeb, Khalid Elyamany, Ghaleb |
author_sort | Alotaibi, Sultan |
collection | PubMed |
description | Erdheim-Chester disease (ECD) is an extremely rare and aggressive form of non-Langerhans cell histiocytosis. ECD usually presents with bone pain in adults aged 40–60. Its etiology is unknown but it is thought to be either a reactive or neoplastic disorder. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in more than 50% of cases. The multisystemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum, and skin. Current available treatment is interferon alpha as the first line of treatment. Treatment with other agents is based on anecdotal case reports. Cladribine, anakinra, and vemurafenib (BRAF inhibitor) are currently advocated as promising second-line treatments for patients whose response to interferon alpha is unsatisfactory. Herein, we are reporting a middle-aged Saudi male patient with an aggressive type of ECD and highlighting the clinical, radiological, and pathological manifestations associated with ECD and the various treatment options and patient follow-up. |
format | Online Article Text |
id | pubmed-5498947 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-54989472017-07-07 Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature Alotaibi, Sultan Alhafi, Osama Nasr, Hatem Eltayeb, Khalid Elyamany, Ghaleb Case Rep Oncol Case Report Erdheim-Chester disease (ECD) is an extremely rare and aggressive form of non-Langerhans cell histiocytosis. ECD usually presents with bone pain in adults aged 40–60. Its etiology is unknown but it is thought to be either a reactive or neoplastic disorder. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in more than 50% of cases. The multisystemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum, and skin. Current available treatment is interferon alpha as the first line of treatment. Treatment with other agents is based on anecdotal case reports. Cladribine, anakinra, and vemurafenib (BRAF inhibitor) are currently advocated as promising second-line treatments for patients whose response to interferon alpha is unsatisfactory. Herein, we are reporting a middle-aged Saudi male patient with an aggressive type of ECD and highlighting the clinical, radiological, and pathological manifestations associated with ECD and the various treatment options and patient follow-up. S. Karger AG 2017-06-14 /pmc/articles/PMC5498947/ /pubmed/28690524 http://dx.doi.org/10.1159/000477336 Text en Copyright © 2017 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case Report Alotaibi, Sultan Alhafi, Osama Nasr, Hatem Eltayeb, Khalid Elyamany, Ghaleb Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature |
title | Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature |
title_full | Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature |
title_fullStr | Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature |
title_full_unstemmed | Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature |
title_short | Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature |
title_sort | erdheim-chester disease: case report with aggressive multisystem manifestations and review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498947/ https://www.ncbi.nlm.nih.gov/pubmed/28690524 http://dx.doi.org/10.1159/000477336 |
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