Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss
Joint Authors
Salama, Hind
Kojan, Suleiman
Abdulrahman, Shaima
Azzumeea, Fahad
Alhejazi, Ayman
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-10-30
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, with only 550 cases reported worldwide.
ECD is characterized by diffuse histiocytic infiltration of multiorgans.
The age of presentation of this disease is typically between 40 and 70 years.
Bone disease is the most common symptom, as unique radiological findings of long bone sclerosis occur in 96% of cases.
Furthermore, BRAF V600E mutation is detected in 60% of ECD cases.
In this manuscript, we are describing a unique case of ECD; the patient is younger than most reported cases and has no bone pain or any skeletal involvement.
This patient has unintentionally lost about 50% of his body mass and is suffering from progressive cerebellar manifestations with radiological evidence of cerebellar atrophy, in contrast to the usual ECD manifestation of cerebellar infiltration.
In addition, the patient has cardiac, retroperitoneal, and perinephric involvement, but he retains his sexual drive and fertility.
A tissue biopsy from the retroperitoneal mass displayed typical morphological and immunohistochemical features of ECD, and BRAF V600E mutation was detected.
He was treated with pegylated interferon alpha, but his disease progressed and the treatment was changed to vemurafenib to which he had an excellent response at 6 weeks.
American Psychological Association (APA)
Salama, Hind& Kojan, Suleiman& Abdulrahman, Shaima& Azzumeea, Fahad& Alhejazi, Ayman. 2017. Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss. Case Reports in Hematology،Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1145844
Modern Language Association (MLA)
Salama, Hind…[et al.]. Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss. Case Reports in Hematology No. 2017 (2017), pp.1-6.
https://search.emarefa.net/detail/BIM-1145844
American Medical Association (AMA)
Salama, Hind& Kojan, Suleiman& Abdulrahman, Shaima& Azzumeea, Fahad& Alhejazi, Ayman. Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss. Case Reports in Hematology. 2017. Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1145844
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145844