Griscelli syndrome type 2: A silvery hair syndrome with hemophagocytosis

Abstract

Griscelli syndrome is a very rare autosomal recessive disorder with only about 60 cases reported in the literature. It is characterized by reduced pigmentation of the skin, silvery discoloration of the hair and immunodeficiency. Patients can have an accelerated hemophagocytic phase. The accelerated phase commonly occurs following an infection and has a high risk of mortality. Griscelli syndrome has to be distinguished from Chediak-Higashi syndrome and Elejalde disease, which can also present with silvery hair. In this case report, we discuss the child with silvery hair who presented with hemophagocytic lymphohistiocytosis following varicella infection and was diagnosed to have Griscelli syndrome.