Erdheim-Chester- und Rosai-Dorfman-Erkrankung

Abstract

Non-Langerhans cell histiocytoses (N-LCH) of adulthood are rare disorders with heterogeneous pathogenesis, morphology and clinical presentation. In this review two disorders are presented, which predominantly develop in extracutaneous sites in adults. Erdheim-Chester disease is a rare nonhereditary clonal disorder of lipid storing histiocytes most commonly presenting as osseous involvement of the long bones. Other organ manifestations include the central nervous system (CNS), the cardiovascular system, the retroperitoneum and kidneys and less commonly the skin and the lungs. Immunohistochemical staining reveals positivity for the macrophage markers CD163, CD68 and lysozyme but CD1a and langerin are negative, in contrast to Langerhans cell histiocytosis. Rosai-Dorfman disease is considered to be a reactive histiocytic proliferation occurring mainly in lymph nodes. Prominent sinuses filled with commonly multinucleated, S100-positive histiocytes with emperipolesis are a characteristic feature and develops particularly as extensive lymphadenopathy with massive sinus histiocytosis but can also occur extranodally. Painless bilateral cervical lymph node enlargement is the most common clinical presentation. This review summarizes the clinical, radiological and histopathological findings and discusses the recent molecular advances in these rare disorders.

Enfermedad De Rosai-Dorfman: Luces Y Sombras De Una Enfermedad Poco Conocida

“…En las formas localizadas de la enfermedad, el tratamiento de elección es quirúrgico. En la presentación sistémica, el tratamiento de primera línea son los corticoides en forma prolongada, cuya administración durará según la gravedad del paciente (1,6,7,8). De no haber respuesta positiva a los seis meses o en casos de corticodependencia, se indican tratamientos de segunda línea sobre la base de inmunosupresores (metotrexato, interferón alfa, vinblastina).…”

Rare diseases of bone

“…The accessory cells of the immune system consist of specialized dendritic cells (antigen-presenting) and various monocyte-macrophage (histiocytic) cell types (antigen-processing cells). The neoplastic and systemic proliferation of these accessory cell types is particularly rare; 1 additionally, until recently, because clonal markers were lacking, differentiation between a reactive and a neoplastic type of proliferation was difficult to establish. 1 Accumulation and infiltration of variable numbers of monocytes, macrophages and dendritic cells in the affected tissues is associated with a group of diverse disorders named ‘histiocytoses’.…”

“… 2 - 5 The location and extent of these histiocytic lesions substantially affects the course of the disease and the patient’s prognosis. 1 - 5 Therefore, decisions regarding treatments are usually based on the extent of the disease and evidence of critical organ (risk organ) dysfunction. Risk organs for LCH include the lungs, liver, spleen and bone marrow, while risk organs for N-LCH include the skin, liver, kidneys and lungs.…”