Griscelli syndrome type 2-A case report and clinical approach to silver blonde hair
Joint Authors
Durrani, Sana
Chicka, Michael
Afroze, Bushra
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 2 (30 Apr. 2016), pp.229-232, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-04-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
2015 The Authors.
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American Psychological Association (APA)
Durrani, Sana& Chicka, Michael& Afroze, Bushra. 2016. Griscelli syndrome type 2-A case report and clinical approach to silver blonde hair. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 2, pp.229-232.
https://search.emarefa.net/detail/BIM-679313
Modern Language Association (MLA)
Durrani, Sana…[et al.]. Griscelli syndrome type 2-A case report and clinical approach to silver blonde hair. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 2 (Apr. 2016), pp.229-232.
https://search.emarefa.net/detail/BIM-679313
American Medical Association (AMA)
Durrani, Sana& Chicka, Michael& Afroze, Bushra. Griscelli syndrome type 2-A case report and clinical approach to silver blonde hair. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 2, pp.229-232.
https://search.emarefa.net/detail/BIM-679313
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 321-232
Record ID
BIM-679313