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A Case of Blau Syndrome with NOD2 E383K Mutation
Author(s) -
Harada Jun,
Nakajima Takeshi,
Kanazawa Nobuo
Publication year - 2016
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.12908
Subject(s) - penetrance , medicine , asymptomatic , asymptomatic carrier , nod2 , mutation , erythema , dermatology , family history , disease , pathology , genetics , gene , phenotype , biology , crohn's disease
We report a 3.5‐year‐old Japanese boy who developed lichenoid papules and erythema with noncaseating epithelioid cell granulomas with a scant lymphocytic infiltrate histologically on his limbs at the age of 8 months. Genetic analysis of the patient and his parents, who had no medical past history, revealed heterozygous 1147G>A (E383K) mutation of NOD2 in the patient and in his father, so the patient was diagnosed with Blau syndrome and his father as an asymptomatic carrier. Although Blau syndrome has been reported as a genetic disease with high penetrance, asymptomatic carrier cases of a family with the same E383K mutation have also been reported. These results suggest that some contributing factors are required for the development of inflammatory and granulomatous responses in heterozygous carriers of a NOD2 E383K mutation.