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

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