Erdheim-Chester disease, sclerosing skeletal histocytosis 4.33/5 (3)

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Erdheim-Chester disease. Kidney area MR showing "Hairy Kidney" (impure kidney capsules). Gastroenterology Unit, Southern District Health Board, Dunedin, New Zealand. CC BY 2.0

Erdheim-Chesters disease (sclerosing skeletal histocytosis) ICD-10: C96.1

Definition

Erdheim-Chester's disease is a non-Langerhans cell histiocytosis which is also called multifocal osteosclerosis and is a result of disease in cells in immune system (histocytes and tissuemacrophages)

Occurrence

Rare disease (about 500 described cases). Described by Chester 1930.

  • Men and women of all ages can get the disease, but it is more common among men.
  • The average age at the onset of illness is 52 years
  • Erdheim-Chester disease is defined as one rare disease

Symptoms

Symptoms Occurrence (%)

Diagnosis

  • Skeletal pain, most often in sub-extremities
  • Osteosclerosis on X-rays of the long tube bones
  • Maxilar sinus (jaw sinuses) may show signs of disease with densities and skeletal changes
  • CNS: Headache
    • MRI examination of the brain shows typical signal changes in the dura. The changes may look like meningioma
  • Exophthalmos and vision changes
  • Biopsy: Erdheim-Chester cells express histiocyte marker CD68, but unlike Langerhans histiocytosis, which do not express CD1a or S100

Complications

  • Skeleton (95%):
    • Pain in arms and legs
      • Osteosclerosis detected by X-ray / CT / MRI / Scintigraphy of skeleton (long tube bones)
  • Sinuses: Changes in the maximal sinus
  • The Heart (50%)
    • Heart valve (insufficiency)
    • Rhythm Disturbances
    • Peri-aortic fibrotic infiltration with stenoses also in coronary arteries
      • May cause angina and heart attack
      • Cardiomyopathy, most commonly in the right part of the heart
  • Lungs: (25-50%)
    • Pleural effusion
    • Parenchyma opacities (milk glass, fibrosis, cysts, nodules)
  • Retroperitoneum
  • CNS
    • Headache
    • Loss of libido
    • Cerebellar: ataxia
    • Pituitary gland: central diabetes insipitus with extreme thirst
    • Dura: infiltration (meningitis)

Biopsy / Histology

Bone marrow biopsy shows histiocyte proliferation by staining CD68 + and CD1a-. Xanthomatous or xanthio-granulomatous infiltration of histocytes surrounded by fibrosis.

Incorrect diagnosis? (Similar diseases / differential diagnoses)

Treatment

  • Surgical removal, high dose steroids (prednisolone), cyclosporin, interferon alpha, chemotherapy, radiation therapy

Prognosis:

  • Serious illness. Data from 2005 showed 5's survival 50%

Literature


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