Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2

Ryan Gotesman; Michele Ramien; Christine M Armour; Anne Pham-Huy; Carly Kirshen

doi:10.1111/pde.14370

Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2

Pediatr Dermatol. 2021 Jan;38(1):194-197. doi: 10.1111/pde.14370. Epub 2020 Sep 23.

Authors

Ryan Gotesman¹, Michele Ramien², Christine M Armour³, Anne Pham-Huy⁴, Carly Kirshen⁵

Affiliations

¹ Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
² Division of Community Pediatrics, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada.
³ Regional Genetics Program, Children's Hospital of Eastern Ontario, and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
⁴ Division of Infectious Diseases, Immunology and Allergy, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
⁵ Division of Dermatology, Department of Medicine, University of Ottawa, Ottawa, ON, Canada.

PMID: 32965739
DOI: 10.1111/pde.14370

Abstract

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.

Keywords: Griscelli syndrome type 2; RAB27A; granuloma; hemophagocytic lymphohistiocytosis; hypopigmentation.

Publication types

Case Reports

MeSH terms

Child, Preschool
Female
Granuloma / diagnosis
Granuloma / etiology
Humans
Immunologic Deficiency Syndromes*
Infant
Lymphohistiocytosis, Hemophagocytic* / diagnosis
Piebaldism* / diagnosis
Piebaldism* / genetics
Primary Immunodeficiency Diseases

Supplementary concepts

Griscelli syndrome type 2