A familial case of Blau syndrome caused by a novel NOD2 genetic mutation / 소아과
Korean Journal of Pediatrics
;
: S5-S9, 2016.
Article
in English
| WPRIM
| ID: wpr-228474
ABSTRACT
Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation that causes BS. A girl, aged 8 years, and her brother, aged 10 years, developed erythematous skin rashes and uveitis. The computed tomography angiogram of the younger sister showed features of midaortic dysplastic syndrome. The brother had more prominent joint involvement than the sister. Their father (38 years) was also affected by uveitis; however, only minimal skin involvement was observed in his case. The paternal aunt (39 years) and her daughter (13 years) were previously diagnosed with sarcoidosis. Mutational analysis revealed a novel c.1439 A>G mutation in the NOD2 gene in both siblings. The novel c.1439 A>G mutation in the NOD2 gene was found in a familial case of BS. Although BS is rare, it should always be considered in patients presenting with sarcoidosis-like features at a young age. Early diagnosis of BS and prompt multisystem workup including the eyes and joints can improve the patient's outcome.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arthritis
/
Sarcoidosis
/
Skin
/
Uveitis
/
Nuclear Family
/
Polymorphism, Single Nucleotide
/
Siblings
/
Early Diagnosis
/
Dermatitis
/
Exanthema
Type of study:
Diagnostic study
/
Screening study
Limits:
Female
/
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2016
Type:
Article
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