Rare Diseases Symptoms Automatic Extraction

Erdheim-Chester disease.

[erdheim-chester disease]

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans' cell histiocytosis. Diagnosis of ECD is based on the identification in tissue biopsy of histiocytes, which are typically foamy and immunostain for CD68+ CD1a-. Central nervous system involvement is a major prognostic factor in ECD. Interferon alpha may be the best first-line therapy and significantly improves survival of ECD. The BRAFV600E mutation is found in more than 50% of cases. Vemurafenib has been used for a small number of patients harbouring this mutation; inhibition of BRAF activation by vemurafenib was highly beneficial in these cases of severe multisystemic and refractory ECD.

Diseases presenting "small number" symptom

  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • aromatase deficiency
  • cadasil
  • carcinoma of the gallbladder
  • cohen syndrome
  • cushing syndrome
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • dracunculiasis
  • erdheim-chester disease
  • focal myositis
  • gm1 gangliosidosis
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • locked-in syndrome
  • malignant atrophic papulosis
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • pleomorphic liposarcoma
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • thoracic outlet syndrome
  • triple a syndrome
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

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