Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease.
Allergy Asthma Clin Immunol
; 17(1): 6, 2021 Jan 06.
Article
en En
| MEDLINE
| ID: mdl-33407743
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Allergy Asthma Clin Immunol
Año:
2021
Tipo del documento:
Article
País de afiliación:
Suiza