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Indian Journal of Dermatology
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E-IJD CASE REPORT
Year : 2015  |  Volume : 60  |  Issue : 5  |  Page : 524

Chediak-higashi syndrome: A case series from Karnataka, India


Department of Pathology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India

Correspondence Address:
Pradeep Rudramurthy
Department of Pathology, Indira Gandhi Institute of Child Health, South Hospital Complex, Bangalore ? 560 029, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.159662

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Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. However, the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors are diagnostic of CHS. Here, we present a series of five cases, out of which four presented in the accelerated phase. In all the five cases, the giant granules were noted predominantly in the cytoplasm of lymphocytes, which is a rare occurrence compared to those present in the granulocytes.


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