Mixed Langerhans Cell Histiocytosis and Erdheim-Chester Disease in a Girl: A Rare and Puzzling Diagnosis.
J Pediatr Hematol Oncol
; 43(3): e375-e379, 2021 04 01.
Article
em En
| MEDLINE
| ID: mdl-32097280
ABSTRACT
OBJECTIVE:
The objective of this study was to report the case of a girl diagnosed as suffering from multisystem, BRAF V600E-positive refractory Langerhans cell histiocytosis (LCH) and coexistent Erdheim-Chester disease (ECD) with perirenal, intracranial involvement and the dramatic response to clofarabine treatment. OBSERVATIONS Histiocytoses are rare diseases with a broad clinical spectrum. Recent evidence supports a molecular and clinical overlap between LCH and ECD, and mixed LCH/ECD is now a separate entity. However, only a few pediatric cases of mixed disease have been reported in the literature.CONCLUSIONS:
In a child with refractory, multisystem histiocytosis and atypical presentations, mixed LCH/ECD should be suspected in the differential diagnosis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Histiocitose de Células de Langerhans
/
Doença de Erdheim-Chester
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article