Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2.
Ryan Daniel GotesmanMichele RamienChristine M ArmourAnne Pham-HuyCarly KirshenPublished in: Pediatric dermatology (2020)
Griscelli syndrome type 2 is a rare autosomal recessive disorder characterized by hypopigmentation, silvery hair, and immunological dysfunction with no primary neurological impairment. We report an 18-month-old girl with Griscelli syndrome type 2 who presented to the dermatology department for cutaneous granulomas that developed following live-attenuated vaccination. Two compound heterozygous variants in the RAB27A gene were subsequently identified. She developed hemophagocytic lymphohistiocytosis, the key immunological concern, at age 5 years.