• Tuberculosis and Respiratory Diseases
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• v.41 no.6
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• pp.644-650
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• 1994

Sarcoidosis can affect two or more members of the same family, and the reported occurrence of such familial sarcoidosis is variable from 0.5 to 14%. Recent1y we have experienced familial sarcoidosis affected mother and daughter, for the first time in Korea. Mother was diagnosed as Stage 11 sarcoidosis 4 years ago by transbronchial lung biopsy and cervical lymph node biopsy with compatible BAL finding in our hospital. This time, the daughter was admitted with bilateral hilar enlargement and anterior uveitis. Even though she had positive tuberculin skin test and atypical BAL finding(lymphocyte: 61%, CD4/CD8: 1.22). Transbronchial lung biopsy and mediastinal lymph node biopsy revealed noncaseating epithelioid granuloma without AFB. Slit lamp examination of the eyes showed severe anterior uveitis. Systemic steroid therapy was started due to progressive uveitis with antituberculous medication.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.5-9
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• 2016

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.