Griscelli syndrome type 2 - A case report and clinical approach to silver blonde hair

Sana Durrani, Michael Chicka, Bushra Afroze

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598C>T) predicted to cause premature protein termination (p.Arg200*). We also present a clinical approach to silver blonde hair differentiating between the Griscelli syndrome types 1, 2 and 3, Chediak Hegashi Syndrome and Elejalde Syndrome.

Original languageEnglish
Pages (from-to)229-232
Number of pages4
JournalEgyptian Journal of Medical Human Genetics
Issue number2
Publication statusPublished - 1 Apr 2016


  • Bone marrow transplant
  • Griscelli syndrome
  • Pakistan
  • Silver blonde hair


Dive into the research topics of 'Griscelli syndrome type 2 - A case report and clinical approach to silver blonde hair'. Together they form a unique fingerprint.

Cite this