Which physical findings of albinism 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

Oculocutaneous albinism (OCA) is prominent, and, together with photophobia and silvery hair, it is helpful in early diagnosis. [16] Pigment dilution of the skin and hair may be appreciated at birth on physical examination. The skin is fair, the retinae are pale, and the irides are translucent. The hair is light blonde or silvery gray and may be sparse. Iris hypopigmentation may be associated with decreased retinal pigmentation, and ocular manifestations include photophobia, decreased visual acuity, nystagmus, and strabismus. [14] The degree of hypopigmentation varies and typically affects skin, hair, and eyes. A speckled hyperpigmentation or dark skin may uncommonly be seen in more pigmented races, leading to the suspicion of other diseases with a consequent delay in diagnosis.


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