An effective treatment in Erdheim Chester disease: vemurafenib: a case report.
J Med Case Rep
; 17(1): 426, 2023 Oct 12.
Article
en En
| MEDLINE
| ID: mdl-37821987
ABSTRACT
BACKGROUND:
Erdheim Chester disease (ECD) is a rare disease with multisystemic involvement in the group of non-langerhans cell histiocytosis. Although nearly 100 years have passed since its definition, the number of cases reported all over the world is below 1000. In addition to the rarity of the disease, low awareness seems to play a role in this. CASE PRESENTATION 47-year-old white caucasian women patient who presented to our clinic with symptoms of weakness-fatigue as well as increasing pain in the knees and ptosis in the left eye. Result of the patient's bone biopsy, ECD was considered pathologically and BRAF V600E mutation was shown molecularly. After presenting the clinical, laboratory and other examination results of the case, the dramatic response seen with targeted therapy will be discussed.CONCLUSIONS:
BRAF V600E mutation is frequently seen in ECD. Vemurafenib plays an active role in targeted therapy.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Enfermedad de Erdheim-Chester
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
J Med Case Rep
Año:
2023
Tipo del documento:
Article
País de afiliación:
Turquía