Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease
Abstract Background Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose. Cases Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather...
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doaj-5fa458da23be4c75bf29cf8ba83319202021-01-10T12:35:58ZengBMCAllergy, Asthma & Clinical Immunology1710-14922021-01-011711610.1186/s13223-020-00505-2Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related diseaseDavid Spoerl0Raphaël André1Aurélie Bornand2Jörg D. Seebach3Division of Immunology and Allergy, Department of Medicine, University HospitalDivision of Immunology and Allergy, Department of Medicine, University HospitalDivision of Clinical Pathology, Department of Diagnostics, University Hospital and Medical FacultyDivision of Immunology and Allergy, Department of Medicine, University HospitalAbstract Background Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose. Cases Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather benign course, for which the diagnosis of ECD was delayed, characterized by multiple investigations and unsuccessful treatments attempts. In two cases the distinction from IgG4-related disease required multiple investigations and reevaluation of the clinical, radiological, histological, and immunological characteristics. Conclusion A correct diagnosis of ECD may take several years and often requires revisiting previous hypotheses. Reassessment of histological slides and more modern complementary exams such as PET-CT or BRAF and MAPK-ERK mutation analysis can help to confirm the diagnosis of ECD and to select effective therapy.https://doi.org/10.1186/s13223-020-00505-2Erdheim-chester diseaseRetroperitoneal fibrosisRenal massHistiocytosisIgG4-related disease |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
David Spoerl Raphaël André Aurélie Bornand Jörg D. Seebach |
spellingShingle |
David Spoerl Raphaël André Aurélie Bornand Jörg D. Seebach Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease Allergy, Asthma & Clinical Immunology Erdheim-chester disease Retroperitoneal fibrosis Renal mass Histiocytosis IgG4-related disease |
author_facet |
David Spoerl Raphaël André Aurélie Bornand Jörg D. Seebach |
author_sort |
David Spoerl |
title |
Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease |
title_short |
Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease |
title_full |
Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease |
title_fullStr |
Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease |
title_full_unstemmed |
Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease |
title_sort |
three cases of braf mutation negative erdheim-chester disease with a challenging distinction from igg4-related disease |
publisher |
BMC |
series |
Allergy, Asthma & Clinical Immunology |
issn |
1710-1492 |
publishDate |
2021-01-01 |
description |
Abstract Background Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose. Cases Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather benign course, for which the diagnosis of ECD was delayed, characterized by multiple investigations and unsuccessful treatments attempts. In two cases the distinction from IgG4-related disease required multiple investigations and reevaluation of the clinical, radiological, histological, and immunological characteristics. Conclusion A correct diagnosis of ECD may take several years and often requires revisiting previous hypotheses. Reassessment of histological slides and more modern complementary exams such as PET-CT or BRAF and MAPK-ERK mutation analysis can help to confirm the diagnosis of ECD and to select effective therapy. |
topic |
Erdheim-chester disease Retroperitoneal fibrosis Renal mass Histiocytosis IgG4-related disease |
url |
https://doi.org/10.1186/s13223-020-00505-2 |
work_keys_str_mv |
AT davidspoerl threecasesofbrafmutationnegativeerdheimchesterdiseasewithachallengingdistinctionfromigg4relateddisease AT raphaelandre threecasesofbrafmutationnegativeerdheimchesterdiseasewithachallengingdistinctionfromigg4relateddisease AT aureliebornand threecasesofbrafmutationnegativeerdheimchesterdiseasewithachallengingdistinctionfromigg4relateddisease AT jorgdseebach threecasesofbrafmutationnegativeerdheimchesterdiseasewithachallengingdistinctionfromigg4relateddisease |
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