ERDHEIM-CHESTER DISEASE

By Gary M. White, MD

Erdheim-Chester disease


Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis with multiple organ involvement. Some classify it as a subset of disseminated juvenile xanthogranuloma. Approximately 33% have cutaneous involvement and 25% of patients have xanthelasma-like lesions (XLL). Recurrent BRAFV600E mutation occurs in about 55% of cases. BRAFV600E mutation is more frequently detected in patients with cutaneous involvement and is almost always found in those with XLL.

Clinical

Initially, red-brown papules form and then becoming yellowish. These lesions, initially isolated, gradually tend to coalesce and merge into plaques, mostly periorbitally and in the body folds. Approximately 25% of patients with ECD (and 75% of ECD-patients with cutaneous involvement) have xanthelasma-like lesions on the eyelids. Langerhans cell histiocytosis may be associated and presents with crusted papules and plaques of the folds.

In a recent review of 123 patients with ECD, 33% (40/123) had cutaneous involvement and 25% (31/123) had XLL [JAAD 2016;74;513].

Treatment

An expert in this disease should carry out the treatment.

Activating BRAFV600E mutation has been found patients with ECD and may help direct therapy. Indeed vemurafenib has been found effective in BRAF-mutated ECD [Rheumatology (Oxford). 2015 Jul 2].

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