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J.Y.W. Lee, M.S. Eldeeb, C.‐K. Hsu, R. Saito, S.A. Abouzeid, J.A. McGrath, Further evidence for genotype–phenotype disparity in Griscelli syndrome, British Journal of Dermatology, Volume 176, Issue 4, 1 April 2017, Pages 1086–1089, https://doi.org/10.1111/bjd.14866
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Funding sources: the authors acknowledge financial support from the National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy's and St Thomas’ NHS Foundation Trust and King's College London.
Conflicts of interest: none declared.
Dear Editor, First described in 1978, Griscelli syndrome (GS) is a rare autosomal recessive disorder featuring pigmentary dilution of the hair and skin.1 GS is caused by mutations in any of the three genes encoding a tripartite protein complex essential for melanosome transport.2 GS1 (MIM214450) presents as hypomelanosis with primary neurological defects and is caused by mutations in MYO5A,3 and may be the same entity as Elejalde syndrome (MIM256710).4 GS2 (MIM607624), caused by mutations in RAB27A, is characterized by hypomelanosis with immunodeficiency,5 although some individuals also may have neurological abnormalities secondary to a haemophagocytic syndrome.6 Lastly, GS3 (MIM609227) features hypomelanosis without additional neurological or immunological impairment, and is caused by mutations in MLPH.7 Of the three types, GS2 is the most common, although clinical heterogeneity makes genotype–phenotype correlation challenging.8
