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CASE REPORT
Year : 2015  |  Volume : 7  |  Issue : 3  |  Page : 133-135

Silvery hair with speckled dyspigmentation: Chediak-Higashi syndrome in three indian siblings


Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India

Correspondence Address:
Chekuri Raghuveer
Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary - 583 104, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-7753.167462

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Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years had similar clinical, peripheral blood picture, and hair microscopy findings consistent with CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early recognition, and management of the condition may prevent the preterm morbidity associated.


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