Chediak Higashi syndrome

Synonym(s)

Bequez Cesar syndrome, Chediak-Stein-brinck-Higashi syndrome

Definition

Disorder characterized by immune deficiency, partial oculocutaneous albinism, easy bruising, and bleeding, as a result of deficient platelets and recurrent infections

Pathogenesis

Autosomal recessive trait; gene mutation affecting the synthesis and/or maintenance of storage/secretory granules in various types of cells, including melanocytes and neutrophils; abnormal intracellular protein transport

Clinical manifestation

Lack of skin pigmentation, similar to albinos, but in patchy distribution; blonde hair; blue eyes; photophobia; gingivitis and oral mucosal ulceration; frequent and severe pyogenic infections; neurologic dysfunction

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