Updated: 12/17/2019


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  • A 4-year-old boy is brought to his pediatrician by his mother who reports that he has had a fever, recurrent ear infections, and has been complaining of headaches and chronic pain in his left leg for several weeks. A radiograph is shown.
  • Cancer-like group of syndromes related to proliferation of histiocytes (Langerhans cells)
    • macrophage-like cells of the skin
  • Thought to be autoimmune in origin
  • Three major variants include
    • Letterer-Siwe Disease
      • acute aggressive and disseminated variant
      • usually fatal in infants
    • Hand-Schuller-Christian syndrome
      • chronic progressive variant with onset prior to five years of age
      • classic triad includes
        • skull lesions
        • diabetes insipidus
        • exophthalmus
    • Eosinophilic granuloma
      • extraskeletal generally limited to lung
      • best prognosis and sometimes regresses spontaneously
  • Epidemiology
    • affects roughly 1:200,000 individuals per year
    • can occur in children or adults
    • peak incidence occurs in children 5-10 years of age
    • pulmonary histiocytosis is most common variant in adults
      • peak incidence in 30-40 years of age
  • Symptoms
    • symptoms range depending on severity of disease and age of affected individual
      • children
        • abdominal pain
        • dizziness
        • ear infections/drainage
        • orbital protrusion
        • fever
        • headache
        • jaundice
        • limping (due to leg pain)
        • mental dysfunction
        • rash
        • seizures
        • shortened height
        • swollen lymph glands
        • thirst
        • vomiting
      • adults
        • bone pain
        • chest pain
        • cough
        • fever
        • malaise
        • urinary frequency
        • rash
        • dyspnea
        • thirst
        • unintentional weight loss
  • Physical exam
    • tumors in weight-bearing bones may be identified
      • i.e. legs and spine
    • failure to thrive
    • delayed puberty
    • mental instability or delayed development
    • hyperventilation
  • Radiography
    • may show classic "punched out" lesions in skull
      • not to be confused with multiple myeloma
    • skeletal survey may show identify other bony lesions
    • CXR may demonstrate pulmonary nodules
  • Skin biopsy
    • to look for presence of Langerhans cells
  • CBC
    • may show lymphocytosis
  • Bronchoscopy
    • usually with biopsy in adults to evaluate pulmonary histiocytosis
  • PFTs
    • may indicated respiratory dysfunction
  •  Multiple myeloma, lymphomas
  • Medical management
    • corticosteroids
      • indicated to slow autoimmune reaction
    • cyclophosphamide, etoposide, methotrexate, and vinblastine
      • may be indicated in severe cases in children
    • radiation therapy
      • may be indicated for bony lesions
    • smoking cessation
      • may reduce incidence and severity of pulmonary histiocytosis
    • supportive care
      • antibiotics for infection
      • mechanical ventilation
      • hormone replacement therapy
      • physical therapy
      • medicated shampoos
  • Surgical intervention
    • tumor resection
      • may be indicated in large bony lesions
      • especially in leg tumors
Prognosis, Prevention, and Complications
  • Prognosis
    • depends on specific type and severity of disease
    • 50% of pulmonary histiocytosis cases are fatal
    • young children, especially infants, usually die of disease
  • Prevention
    • there are no known preventive measures for childhood disease
    • smoking cessation can reduce risk of pulmonary histiocytosis
  • Complications
    • multiple organ involvement can lead to death, spontaneous pneumothorax,

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