Langerhans Cell Histiocytosis: a Case Report

Abstract

Langerhans cell histiocytosis is a disease which results from accumulation or proliferation of a clonal population of cells with the phenotype of Langerhans cells arrested at an early stage of activation that are functionally deficient. The etiology and pathogenesis of the disorder are still unknown. There are ongoing investigations to determine whether it is a reactive or a neoplastic disease. The fact is that neoplastic and reactive processes may have many clinical and pathological similarities. Some emphasize the role of “cytokine storm” in Langerhans cells. Further studies are necessary in all areas, from the etiology and pathogenesis to diagnosis and therapy. Langerhans cell histiocytosis primarily affects bones, but less commonly it may involve other organ systems, or present as a multisystem disease. The clinical course is variable, from benign forms with spontaneous resolution, to chronic disseminated forms with fatal outcome. This is a report of a 29-year-old man with Langerhans cell histiocytosis with an onset at the age of 8, which later progressed to a multisystem disease. Apart from lesions on the skin and exposed mucous membranes, the patient also presented with: diabetes insipidus, granuloma of the right femur and slight bulbar protrusion of the right eye. The patient experienced spontaneous pneumothorax on two occasions. The diagnosis of Langerhans cell histiocytosis was histologically confirmed using electron microscopy by presence of Birbeck granules in the histiocytes. A favorable therapeutic response was obtained after systemic corticosteroid therapy.