• 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

  • From page
    122
  • To page
    124
  • 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
  • Record number

    2635390