Title: Griscelli Syndrome Type 3: A Case Report
Authors: Ravinder Singh, Dilbag Singh, Shikha Verma
DOI: https://dx.doi.org/10.18535/jmscr/v8i6.54
Abstract
Griscelli syndrome (GS) is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment and abnormal accumulation of melanosomes in melanocytes. The three different types of GS are caused by mutations in three different genes. Griscelli type 3 is due to mutations in the Mlph gene, characterized by hypomelanosis with no immunological and neurological manifestation. We report a 19 years old male with type 3 GS having only pigmentary dilution; silvery gray hair, eye brows, and eyelashes
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