التفاصيل البيبلوغرافية
| العنوان: |
Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease |
| المؤلفون: |
Spoerl, David, André, Raphaël, Bornand, Aurélie, Seebach, Jörg D. |
| المصدر: |
Allergy, Asthma & Clinical Immunology ; volume 17, issue 1 ; ISSN 1710-1492 |
| بيانات النشر: |
Springer Science and Business Media LLC |
| سنة النشر: |
2021 |
| مصطلحات موضوعية: |
General Medicine |
| الوصف: |
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. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1186/s13223-020-00505-2 |
| DOI: |
10.1186/s13223-020-00505-2.pdf |
| DOI: |
10.1186/s13223-020-00505-2/fulltext.html |
| الإتاحة: |
https://doi.org/10.1186/s13223-020-00505-2Test |
| حقوق: |
http://creativecommons.org/licenses/by/4.0Test/ ; http://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.4FF92E01 |
| قاعدة البيانات: |
BASE |
