Diagnosis and management of langerhans cell histiocytosis.

Abstract

Langerhans cell histiocytosis is a rare group of disorders without a well-understood etiology. Known formerly as histiocytosis X, the disease has a wide spectrum of clinical presentations, including eosinophilic granuloma (solitary bone lesion), diabetes insipidus, and exophthalmos. It is also known by several eponyms, including Hand-Schüller-Christian disease when it manifests as a triad of cranial bone lesions and Letterer-Siwe disease when it is found in infantile patients with severely disseminated disease. Children aged 5 to 15 years are most commonly affected. Many of these patients initially present to orthopaedic surgeons, and misdiagnosis is frequent. To accurately diagnosis and treat these patients, the orthopaedic surgeon must be familiar with the clinical manifestations and pathophysiology of the disease as well as the treatment guidelines and outcomes for Langerhans cell histiocytosis.