Abstract
Griscelli syndrome (GS) is rare autosomal recessive disorder with pigmentary dilution, immunodeficiency and neurological involvement1,2. We report a child with classical features of GS and pathognomonic histopathological features of skin and hair. Sri Lanka Journal of Child Health , 2015; 44 (3): 171-173
Highlights
Griscelli syndrome (GS) is rare autosomal recessive disorder with pigmentary dilution, immunodeficiency and neurological involvement[1,2]
GS is classified into 3 types based on mutations in genes; MYO5A (GS1), RAB27A (GS2) or MLPH (GS3)
MYO5A moves along actin cytoskeleton, tethers melanosome at plasma membrane ready for pigment delivery
Summary
Griscelli syndrome (GS) is rare autosomal recessive disorder with pigmentary dilution, immunodeficiency and neurological involvement[1,2]. We report a child with classical features of GS and pathognomonic histopathological features of skin and hair
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