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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...

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Autores principales: Alotaibi, Sultan, Alhafi, Osama, Nasr, Hatem, Eltayeb, Khalid, Elyamany, Ghaleb
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
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.
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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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