PARTIAL ALBINISM WITH IMMUNODEFICIENCY - GRISCELLI-SYNDROME - REPORT OF A CASE AND REVIEW OF THE LITERATURE

Partial albinism with immunodeficiency (Griscelli syndrome) is an unco mmon disorder characterized by pigmentary dilution and variable immuno deficiency. Features include a silvery-gray sheen to the hair, large c lumped melanosomes in hair shafts, and prominent mature melanosomes in cutaneous melanocytes with sparse pigmentation of adjacent keratinocy tes. Immunologic abnormalities most often include impaired natural kil ler cell activity, absent delayed-type hypersensitivity, and impaired responses to mitogens. Impaired helper T cell function and hypogammagl obulinemia have also been described. The syndrome can be differentiate d from Chediak-Higashi syndrome by pathognomonic light and electron mi croscopic features in skin and hair,and absence of consistent granuloc yte abnormalities, but similarly carries a poor prognosis without bone marrow transplantation. We describe a patient with Griscelli syndrome who presented with hepatosplenomegaly, hepatitis, pancytopenia, and s ilvery hair in the newborn period.