Erdheim-Chester Disease: A Unique Presentation With Liver Involvement and Vertebral Osteolytic Lesions

2003 ◽  
Vol 127 (8) ◽  
pp. e337-e339 ◽  
Author(s):  
Doina Ivan ◽  
Antonio Neto ◽  
Luciano Lemos ◽  
Arpan Gupta
Keyword(s):  
S100 Protein ◽  
Axial Skeleton ◽  
Giant Cells ◽  
Langerhans Cell ◽  
Cell Group ◽  
Unknown Etiology ◽  
Diffuse Infiltration ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Erdheim-Chester disease is a very rare xanthogranulomatous, non-Langerhans cell systemic histiocytosis with an unknown etiology and pathogenesis. Histologically, it is characterized by a diffuse infiltration with large, foamy histiocytes, rare Touton-like giant cells, lymphocytic aggregates, and fibrosis. The histiocytes differ from the Langerhans cell group in ontogenesis, immunohistochemistry (positive for CD68 and negative for CD1a and S100 protein), and ultrastructural appearance (lack of Birbeck granules). Although most of the cases have symmetric osteosclerosis of the long bones, an involvement of the axial skeleton has also been described. Extraskeletal lesions are present in more than 50% of the patients and may involve the retroperitoneal space, lungs, kidneys, brain, retro-orbital space, and heart. This study presents the case of a patient with Erdheim-Chester disease with vertebral destruction and, for the first time, to our knowledge, involvement of the liver. The diagnosis is based on radiologic, histologic, immunohistochemical, and ultrastructural findings.

scholarly journals Localized Erdheim-Chester disease involving the thyroid gland—a case report

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
Anup Singh ◽  
Dheeraj Gautam ◽  
Poonam Gautam ◽  
Mubashshirul Haq ◽  
Aru Chhabra Handa ◽  
...  
Keyword(s):  
Thyroid Gland ◽  
Treatment Options ◽  
Giant Cells ◽  
Unknown Etiology ◽  
Elderly Male ◽  
Erdheim Chester Disease ◽  
Contrast Enhanced Ct ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Background Erdheim-Chester disease (ECD) is a rare multisystemic histiocytic disorder of unknown etiology. Isolated neck involvement has not been reported in literature. Case presentation An elderly male presented to our outpatient department with neck swelling of 1-month duration. Contrast-enhanced CT scan of the neck showed a mass involving the left thyroid/perithyroidal tissue with encirclement of the common carotid artery. Tru-Cut biopsy with immunohistochemistry showed CD68+, CD1a- histiocytic infiltrates with Touton giant cells compatible with ECD. BRAFV600E mutation came out to be positive. PET-CT did not reveal involvement of any other body organs. After counseling for further treatment options, the patient chose to follow up without any active treatment. The disease has not progressed at a follow-up of 1 year. Conclusion We present a case of ECD involving the thyroid gland in isolation. Absence of other organ involvement should not deter the treating physician from considering the possibility of ECD. Immunohistochemistry and testing for BRAFV600E mutation are important from the diagnostic as well as potential therapeutic point of view.

Erdheim?Chester disease of the breast associated with Langerhans-cell histiocytosis of the hard palate

2004 ◽  
Vol 445 (4) ◽  
pp. 405-409 ◽  
Author(s):  
V. P. Andrade ◽  
C. C. V. Nemer ◽  
A. N. L. Prezotti ◽  
W. S. L. Goulart
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Hard Palate ◽  
Langerhans Cell ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals Dramatic efficacy of dabrafenib in Erdheim-Chester disease (ECD): a pediatric patient with multiple large intracranial ECD lesions hidden by refractory Langerhans cell histiocytosis

2019 ◽  
Vol 23 (1) ◽  
pp. 48-53 ◽  
Author(s):  
Xiaolei Hao ◽  
Ruie Feng ◽  
Yalan Bi ◽  
Yuhan Liu ◽  
Chunde Li ◽  
...  
Keyword(s):  
Pediatric Patient ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Neurological Involvement ◽  
Treatment Processes ◽  
Erdheim Chester Disease ◽  
Intracranial Lesions ◽  
The Central Nervous System ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare non–Langerhans cell form of histiocytosis that can affect the central nervous system. ECD predominantly affects adults, and only a few pediatric cases have been reported. The co-occurrence of ECD and Langerhans cell histiocytosis (LCH) is exceedingly rare. An 11-year-old boy, who was diagnosed with LCH 7 years previously, presented with multiple giant intracranial lesions. At the time of his initial diagnosis, only one intracranial lesion was observed, and it began to enlarge. Currently, up to 7 intracranial lesions can be observed in this patient. However, the diagnosis of ECD was not confirmed until this most recent open resection. The BRAF V600E mutation was detected in both LCH and ECD lesions. Dabrafenib therapy exhibited dramatic efficacy in this pediatric patient. This case represents the first successful application of dabrafenib in a pediatric patient with intracranial ECD lesions as well as mixed ECD and LCH. In this article, the authors describe the intricate diagnosis and treatment processes in this patient. Recent studies regarding treatment with BRAF inhibitors for neurological involvement in mixed ECD and LCH are also reviewed.

Mixed Langerhans Cell Histiocytosis and Erdheim-Chester Disease in a Girl

2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Suheyla Ocak ◽  
Zuhal Bayramoglu ◽  
Deniz Tugcu ◽  
Serap Karaman ◽  
Aysegul Unuvar ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

18F-Fluoride PET/CT Aspect of an Unusual Case of Erdheim-Chester Disease With Histologic Features of Langerhans Cell Histiocytosis

2013 ◽  
Vol 38 (7) ◽  
pp. 541-542 ◽  
Author(s):  
Cécile Caoduro ◽  
Constantin Marius Ungureanu ◽  
Boris Rudenko ◽  
Orland Angoue ◽  
Oleg Blagosklonov ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Unusual Case ◽  
Langerhans Cell ◽  
Erdheim Chester Disease ◽  
Pet Ct ◽  
Erdheim Chester ◽  
18F Fluoride ◽  
Chester Disease

Erdheim—Chester disease mimicking a primary brain tumor

2004 ◽  
Vol 100 (6) ◽  
pp. 1115-1118 ◽  
Author(s):  
Elisabeth J. Rushing ◽  
John Paul Bouffard ◽  
Chris J. Neal ◽  
Kelly Koeller ◽  
Jonathan Martin ◽  
...  
Keyword(s):  
Giant Cells ◽  
Primary Brain Tumor ◽  
Pathological Examination ◽  
Low Grade ◽  
Imaging Studies ◽  
Content Type ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease ◽  
Fine Print

✓ Erdheim—Chester disease (ECD) is a rare systemic histiocytic disease. The authors present a case report detailing the presentation and treatment of a 26-year-old man diagnosed with seizures and a well-circumscribed temporoparietal mass that had been demonstrated on imaging studies. Both preoperative and intraoperative diagnoses were consistent with a low-grade astrocytic neoplasm. Subsequent pathological examination indicated a histiocytic proliferation positive for CD68 and factor VIII, and negative for CD1a and S100, with Touton giant cells characteristic of ECD. This case represents the first isolated occurrence of intracranial ECD and its potential to mimic glial neoplasms.

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