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Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2
Author(s) -
Gotesman Ryan,
Ramien Michele,
Armour Christine M.,
PhamHuy Anne,
Kirshen Carly
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14370
Subject(s) - hypopigmentation , medicine , dermatology , chédiak–higashi syndrome , pigmentation disorder , pathology , immunology
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.