Clinical and pathologic characteristics of Erdheim-Chester disease
10.3760/cma.j.issn.0529-5807.2014.12.005
- VernacularTitle:Erdheim－Chester 病的临床病理特征
- Author:
Tao LU
1
;
Xinxin CAO
;
Yufeng LUO
;
Huacong CAI
;
Wei ZHANG
;
Dingrong ZHONG
Author Information
1. 100730中国医学科学院,北京协和医学院 北京协和医院病理科
- Keywords:
Erdheim-Chester disease;
Histiocytosis,langerhans-cell
- From:
Chinese Journal of Pathology
2014;(12):809-813
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinicopathologic features, immunophenotype, differential diagnosis and gene mutation status of the Erdheim-Chester disease ( ECD ) .Methods Clinical and pathologic findings of 3 ECD cases were examined by gross, microscopic, immunohistochemical methods and BRAF V600E mutation.Related literatures were reviewed.Results Two male patients and one female patient presented clinically with multiple skin nodules, bone pain and bony lesions by imaging study.Microscopically, the lesions were composed of spindle-shaped fibroblasts, foamy histiocytes and scattered Touton-type giant cells embedded in reactive fibrous tissue.Lymphocytes, plasma cells, and multinucleated giant cells were also found.Immunohistochemically, all histiocytes were positive for CD68, none of which expressed CD1a, although 2 cases focally expressed weak S-100 stain.In 2 cases, BRAF V600E mutation was detected.Conclusions ECD is a rare disease of xanthogranulomatous histiocytosis.Its diagnosis relies on pathological and immunohistochemical findings, but correlation with clinical information, especially radiographic findings should be performed.No effective treatment of the disease is currently available.
