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Diseases of the histiocyte (macrophage) lineage are divided into four groups based upon the final maturation steps from their myeloid progenitor cells. These disease groups include Langerhans cell histiocytosis (LCH), malignant histiocytoses or dendritic cell sarcomas, juvenile xanthogranuloma/Erdheim-Chester disease, and hemophagocytic lymphohistiocytosis syndromes/Rosai-Dorfman disease. Storage diseases of macrophages are discussed in Chap. 73. The distinction among these diseases is based upon clinical characteristics and histopathologic staining for unique surface markers. LCH may present at birth or in adulthood with skin rash, bone pain, draining ears, oral ulcers, gingivitis, pulmonary dysfunction, chronic diarrhea, diabetes insipidus, and marrow or liver failure. Therapy for LCH in children has been studied in clinical trials of the Histiocyte Society, resulting in improvement in outcome. Treatment for adults is based primarily on case series and extrapolation from the pediatric data. Treatment is still unsatisfactory for patients with LCH who relapse and have chronic abnormalities of endocrine and central nervous system. The diagnostic criteria for the malignant histiocytosis has been clarified by cell-surface marker studies. Treatment options and prognosis vary widely. Erdheim-Chester disease and juvenile xanthogranuloma derive from an abnormality in the same cell, but are treated differently. Erdheim-Chester disease is found almost exclusively in adults and juvenile xanthogranuloma occurs primarily in children. Rosai-Dorfman disease presents with massive cervical lymphadenopathy in most patients, but may also involve other parts of the body. There are several treatment options for Rosai-Dorfman disease, Erdheim-Chester disease, and juvenile xanthogranuloma, but no clinical trials of specific drugs have been published. Patients with a hemophagocytic lymphohistiocytosis syndrome may present in ways suggesting they have infections, hepatitis, meningitis, or autoimmune diseases. Fifty-five percent of patients with hemophagocytic lymphohistiocytosis syndrome can be cured with combined chemotherapy and immunotherapy or by hematopoietic stem cell transplantation.

Acronyms and Abbreviations

Abbreviations and acronyms used in this chapter include: ALL, acute lymphoblastic leukemia; ATG, antithymocyte globulin; CD, cluster designation; CT, computed tomography; DAL, Deutsche Arbeitsgemeinschaft für Leukaemieforschung und therapie in Kindersalter; DC, dendritic cell; DI, diabetes insipidus; ECD, Erdheim-Chester disease; HLH, hemophagocytic lymphohistiocytosis; HUMARA, human androgen antigen receptor assay; HX, histiocytosis X; JLCHSG, Japan Langerhans Cell Histiocytosis Study Group; JXG, juvenile xanthogranuloma; IL-1, interleukin 1; LC, Langerhans cell; LCH, Langerhans cell histiocytosis; M-CSF, macrophage colony-stimulating factor; M/M, macrophage/monocyte; MRI, magnetic resonance imaging; NF, neurofibromatosis; PET, positron emission tomography; RDD, Rosai-Dorfman disease; TGF-β, transforming growth factor-beta.

The description of cells in the monocyte-macrophage system (mononuclear phagocyte system) has been largely clarified (see Chaps. 67, 68, and 69). One historical aberrancy is the term “histiocyte” and the set of diseases termed “the histiocytoses.” Histiocyte, a designation assigned in the 19th century to certain tissue cells, is a synonym for the more recent designation “macrophage,” and the diseases under discussion are diseases of macrophages or related cells (e.g., monocyte-derived dendritic cells [DCs]; see Chap. 19). For historical reasons, the pathologist and clinician refer to them as histiocytoses, a deeply ingrained term. The distinctions among ...

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