Which clinical history findings are characteristic of Chédiak-Higashi syndrome (CHS)?

Updated: Aug 08, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Infants born with Chédiak-Higashi syndrome (CHS) have nonpigmented skin (similar to albinos but in patchy distribution), blonde hair, and blue eyes. Signs and symptoms that usually appear soon after birth include the following:

  • Adenopathy
  • Aphthae
  • Gingivitis
  • Hyperhidrosis
  • Miliaria
  • Jaundice
  • Immunodeficiency - A significant history of infections, particularly severe and recurrent sinopulmonary infections
  • Fever unrelated to recognizable infection

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