SEEING THE UNSEEN: A LATE-ONSET GRISCELLI SYNDROME TYPE 2 IN A CHILD WITHOUT HYPOPIGMENTATION

Kübra BASKIN, Serap KIRKIZ KAYALI, Gülsüm KAYHAN, Emine ORULLUOĞLU, Bahar BÜYÜKKARAGÖZ, Ebru AZAPAĞASI, Zühre KAYA, Ülker KOÇAK

Trends in Pediatrics - 2026;7(1):81-83

Autosomal recessive mutations in the RAB27A gene (located on chromosome 15q21 and encoding Rab27a) cause Griscelli syndrome type 2 (GS-2). GS-2 is characterized by hypopigmentation and early-onset, potentially fatal hemophagocytic lymphohistiocytosis (HLH). Here, we present a pediatric patient diagnosed with late-onset GS-2 without hypopigmentation.