Griscelli's syndrome in a young adult - a case report with the review of literature

ABSTRACT

Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery grey hair with large, clumped melanosomes on microscopy of hair shafts is diagnostic. The commonest complication leading to mortality includes lymphohistiocytic proliferation in various organs, including the brain. There are three types of this syndrome described. We present a young adult with classic clinical features and confirmatory findings of clumped melanosomes on microscopy of hair shaft