Cutaneous presentation in chediak – Higashi syndrome – A rare case report

Authors : Zebasultana Saiyed, Shilpa Singh, Vardendra Kulkarni

DOI : 10.18231/j.achr.2022.057

Volume : 7

Issue : 4

Year : 2022

Page No : 251-253

A One and half year-old female child born out of 2consanguineous marriage came with multiple hypopigmented patches over the face, trunk and lower limbs. There was history of recurrent upper respiratory tract infections. On examination she had silvery grey hair, hypopigmented patches and mild hepatomegaly. Ophthalmological examination revealed oculocutaneous albinism. Skin biopsy showed coarse clumps of melanin pigment in the epidermis. Hair mount examination revealed melanin granules in cortex and medulla. Routine blood investigations were within normal limits. Peripheral smear examination showed giant granules in neutrophils and lymphocytes.
 

Keywords: Chediak­Higashi syndrome, Coarse clump melanin, Oculocutaneous albinism

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