The histiocytoses are a group of rare disorders characterised by the accumulation of neoplastic or non-neoplastic activated histiocytes in various tissues. Phenotypes vary widely from cutaneous lesions or lymphadenopathy that regress spontaneously to disseminated disease with poor prognosis. Neurological symptoms can be a presenting feature or appear during the course of disease. We present a challenging diagnostic and management case of Rosai-Dorfman-Destombes disease in a 48-year-old woman with a relapsing, partially steroid-responsive syndrome comprising patchy, non-length-dependent radiculoneuropathy with diffuse pachymeningitis and widespread systemic disease, and recent dramatic response to novel mitogen-activated kinase pathway inhibition. We discuss the clinical characteristics, diagnosis, recent breakthroughs in pathogenesis and emerging treatment options for Rosai-Dorfman disease and for the histiocytoses with neurological sequelae, including Langerhans cell histiocytosis and Erdheim-Chester disease.
- ERDHEIM-CHESTER DISEASE
- CLINICAL NEUROLOGY
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Contributors ASC acquired the data and drafted the manuscript. CMD assisted with data acquisition and manuscript revision. CH, FDB and RP provided figures and manuscript revision. JB, SJH, FMcN, OS, SDS and CMcN provided manuscript revision. MMR conceptualised the article and provided manuscript revision. All authors approved the final manuscript for publication.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Commissioned. Externally peer reviewed by Emma Tallantyre, Cardiff, UK.
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