Griscelli syndrome type 2 - A case report and clinical approach to silver blonde hair
Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (2): 229-232
em Inglês
| IMEMR
| ID: emr-180243
ABSTRACT
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[asterisk]]. 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
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Piebaldismo
/
Cabelo
/
Síndromes de Imunodeficiência
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Egypt. J. Med. Hum. Genet.
Ano de publicação:
2016
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