Doença de Erdheim-Chester: relato de dois casos

Abstract

A doença de Erdheim-Chester é uma rara histiocitose de células não-Langerhans, de etiologia desconhecida, que apresenta manifestações sistêmicas, atingindo ossos, sistema nervoso central, olhos, pulmões, mediastino, rins e retroperitônio. Relatamos dois casos que cursaram com a apresentação típica da doença. Os achados radiológicos foram concordantes com a literatura e orientaram a suspeita diagnóstica, confirmada pelo exame imuno-histoquímico.

Incidental Diagnosis of Oligosymptomatic Bilateral Perirenal Erdheim–Chester Disease during Emergency Investigation for COVID-19 Infection

“…A variable degree of fibrosis is present and can be predominant, resulting in misinterpretation of the lesion as a reactive fibroinflammatory process. However, other histological patterns have also been described [ 4 , 15 , 18 – 20 ]. In the current case, fibrous tissue with prominent histiocytes, plasma cells and lymphocytic infiltrate was present.…”

“…Immunohistochemistry showed positivity for CD68. Indeed, at immunohistochemistry, ECD samples show positivity for histiocytic markers such as CD68 and CD163 and negativity for CD1a and CD207, thus differentiating ECD from LCH [ 18 – 20 ]. In the case described here, molecular testing for BRAF V600E was performed, with results being negative.…”