Title of article :
Griscelli’s syndrome in a young adult – a case report with the review of literature
Author/Authors :
Khan, Ikramullah Pakistan Institute of Medical Sciences - Dermatology Department, Pakistan , Ahmed, Syed Afaq Pakistan Institute of Medical Sciences - Dermatology Department, Pakistan , Khan, Aamna Batool Pakistan Institute of Medical Sciences - Dermatology Department, Pakistan
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
Keywords :
Griscelli’s syndrome , albinism , immunodeficiency
Journal title :
Journal of Pakistan Association of Dermatologists
Journal title :
Journal of Pakistan Association of Dermatologists