Final Diagnosis -- Non-Langerhans cell histiocytosis corresponding to Erdheim-Chester Disease (ECD)


Non-Langerhans cell histiocytosis corresponding to Erdheim-Chester Disease (ECD). The patient was discharged home without further deficit. Follow-up MRI displayed no evidence of tumor recurrence. The patient remains under clinical observation for systemic lesions with periodic Technetium99 bone scan.


Erdheim-Chester Disease (ECD) is a member of the group of diseases known as Histiocytosis, encompassing a broad spectrum of mainly systemic diseases (bone and visceral) whose features depend mainly on the presence or absence of dendritic Langerhans cells. ECD lacks systemic symptoms (as do Rosai-Dorfman disease (RDD), Hemophagocytic lymphohistiocytosis, Juvenile xanthogranuloma and choroid plexus xanthogranuloma) and can present as a tumor -or tumor-like mass- in the central nervous system (CNS). (10)

Systemic (15,1), skeletal (9, 5, 14) or extraskeletal involvement,(7, 13) may be present. More rarely the disease is initially diagnosed as a solitary mass in the CNS (16) , and later on when the patient is usually fully scanned, systemic involvement is detected.(3) In our case, the patient presented a solitary CNS mass, and has remained under follow up for other lesions since the neurosurgical resection.

In terms of the histological assessment, this case showed typical features as described in other reports. (16, 14) However, two issues merit further discussion: first, although occasional multinucleated cells were observed, no typical Touton giant cells were detected as previously reported by other authors.(16, 15, 3) This is in agreement with other series describing complete absence of Touton giant cells (12), or the presence in some cases of only a single cell (9). Second, although the lesion was CD68 positive and CD1a negative, i.e. presented the expected immunophenotype- (12, 3, 16, 1); occasional cells were S100 positive, demonstrating once again the controversy surrounding use of this immunostain for histiocytosis characterization.(9) In most reports S100 was negative,(16, 15, 3) however, a few articles have been published in which it was weakly or occasionally positive.(1, 14, 17)

With reference to differential diagnoses, two important neoplastic proliferations must be considered: Langerhans Cell Histiocytosis (LCH) and Rosai-Dorfman Disease (RDD); even though the former can also present as a solitary CNS mass (4), it usually shows different immunophenotype from ECD (namely CD1a+, S100- and CD68-); the latter shows strong CD68 and S100 positivity, can clinically affect the CNS but usually presents with lymphadenopathy, fever and hypergammaglobulinemia,(16) and although isolated intracranial cases without systemic involvement have been also reported (11, 8, 2, 6), the lack of emperipolesis in our case, as well as the absence of common clinical features such as lymphadenopathy or fever, and the presence of only isolated positive S100 cells allowed us to rule out RDD.


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Contributed by Naomi Arakaki, MD; Miguel A. Riudavets, MD; Andrés Cervio, MD; Marcelo Ferreira, MD; Gustavo Sevlever, MD, PhD.

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