2015 The British journal of dermat…

Multiple cutaneous, oropharyngeal and pulmonary nodules.

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The British journal of dermatology Vol. 173 (2) : 540-3 • Aug 2015

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis defined by heterogeneous multiorgan involvement. Due to the rarity of this disease strong evidence-based therapies have yet to be established and prognosis has previously been considered to be poor, with more than half of patients dying within 3 years of initial presentation. We describe an 86-year-old woman with a 34-year history of extensive cutaneous and internal nodules with typical pathological and immunophenotypical (CD68(+) /CD1a(-) ) features of ECD without evidence of the BRAF V600E mutation. The cosmetic appearance of cutaneous nodules and hoarse voice caused by vocal cord nodules has been managed surgically. More aggressive therapies reported for ECD were trialled for this patient, such as radiotherapy and interferon-alpha, with no response. This case demonstrates a relatively good prognosis in ECD that has been managed conservatively.

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