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A case of griscelli syndrome type 3
6th Global Summit on Dermatology and Cosmetology
September 21, 2021 | Webinar
Kidist Yeneneh
Addis Ababa University, Ethiopia
Posters & Accepted Abstracts : Dermatol Res Skin Care
Abstract:
Griscelli syndrome (GS) is a rare autosomal recessive mulasystem geneac disorder which is characterized by paraal albinism of hair and skin along with neurological and/or immunological defects. Three types of this disorder are disanguished by its geneac cause and patern of signs and symptoms. Paaents with GS type 1 have primary central nervous system dysfuncaon, resulang from mutaaons in the MYO5A gene. Type 2 paaents commonly develop hemophagocyac Lymphohisaocytosis, caused by mutaaons in the RAB27A gene and type 3 have only light skin and silvery hair color resulang from mutaaons in the MLPH.
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