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  • Title: Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face.
    Author: Pujani M, Agarwal K, Bansal S, Ahmad I, Puri V, Verma D, Pujani M.
    Journal: Turk Patoloji Derg; 2011; 27(3):246-8. PubMed ID: 21935875.
    Abstract:
    Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who presented with an unusual hyperpigmentation of the face and extremities.
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