Griscelli syndrome Type 3 in three non-identical siblings

Abstract

Griscelli syndrome (GS) is a fatal autosomal recessive condition characterized by genetic mutation in the intracellular melanosome transport system leading to congenital partial albinism with neurological and/or immunological involvement. It is classified into three subtypes. We present here a case of a 13-year-old girl along with her two siblings (7-year-old male and 9-year-old female) who presented with complaints of gradual onset of pigmentation of the skin with silvery grey hair, eyebrows, and eyelashes since birth. All three cases were diagnosed as GS Type 3 on the basis of clinical presentation, family history, absence of any systemic abnormality, and characteristic microscopic findings of the hair shaft and skin biopsy. To the best of our knowledge, this is the first-ever report of three non-identical siblings of GS Type 3, which is a rare syndrome. GS type 3 needs no active intervention except for regular follow-up.