Chediak-higashi syndrome – a report of two cases with unusual hyperpigmentation of the face | Zendy

Mukta Pujani | Zendy; Kiran Agarwal | Zendy; Shashi Bansal | Zendy; Israr Ahmad | Zendy; Vandana Puri | Zendy; Deepti Verma | Zendy; Meenu Pujani | Zendy

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Chediak-higashi syndrome – a report of two cases with unusual hyperpigmentation of the face

Author(s) -

Mukta Pujani,

Kiran Agarwal,

Shashi Bansal,

Israr Ahmad,

Vandana Puri,

Deepti Verma,

Meenu Pujani

Publication year - 2011

Publication title -

turkish journal of pathology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.305

H-Index - 14

eISSN - 1309-5730

pISSN - 1018-5615

DOI - 10.5146/tjpath.2011.01082

Subject(s) - photophobia , oculocutaneous albinism , chédiak–higashi syndrome , hyperpigmentation , dermatology , albinism , medicine , pigmentation disorder , pathology , ophthalmology , biology , genetics

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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