Primary cutaneous T-cell lymphoma not otherwise specified reveals a novel RAB27A variant in Griscelli syndrome type 2

Griscelli syndrome type 2 (GS2) is a rare, autosomal recessive disorder that typically emerges during childhood. It manifests with partial albinism, silvery hair, immunodeficiency and haemophagocytic lymphohistiocytosis predisposition (HLH). Our findings suggest that lymphoproliferative disorders, including cutaneous lymphomas, should be considered part of the dermatological spectrum of GS2. While GS2 has previously been diagnosed in adults presenting with HLH, our observations indicate that HLH is not an inevitable outcome, even in patients who survive into their fifth decade of life.