• Description: a rare disorder caused by clonal proliferation of Langerhans cells (antigen-presenting cells)
  • Epidemiology: peak incidence between 5 and 10 years
  • Clinical features
    • Bone: Painful, lytic “punched-out” lesions, esp. in the skull. Can cause “floating teeth.”
    • Skin: Scaly, seborrheic-like rash.
    • Endocrine: Diabetes Insipidus from pituitary stalk involvement.
    • Other: Recurrent otitis media (mastoid involvement), pulmonary LCH (in adult smokers).
  • Diagnostics
    • Normal calcium levels
    • X-ray: osteolytic lesions with or without marginal sclerosis
    • Biopsy (confirmatory test): proliferation of Langerhans cells (polygonal cells with coffee bean-shaped nuclei and eosinophilic cytoplasm)
      • Electron microscopy: Birbeck granules (tennis racket-shaped or rod-like structures) in the cytoplasm
      • Immunohistochemistry: cells are positive for S100, CD1a, and/or CD207