Ayşenur PaÇ Kisaarslan, Betül SÖzerİ, Nihal Şahİn, Sümeyra Özdemİr ÇİÇek, Zübeyde GÜndÜz, Erkan Demİrkaya, Afig Berdelİ, Serdal Sadet Özcan, Hakan PorazoĞlu, Ruhan DÜŞÜnsel
OBJECTIVES: This study aims to discuss the clinical, laboratory and genetic findings, and treatment options for six patients who were diagnosed with Blau syndrome (BS)/early-onset sarcoidosis (EOS). PATIENTS AND METHODS: The study included four patients (2 males,2 females; mean age 7 years; range 4 to 10 years) with EOS and two siblings (1 male, 1 female; mean age 10 years; range, 9 to 11 years) with BS. Age, age of initial symptoms, age of diagnosis; articular involvement, presence of uveitis, dermatitis, or fever, other organ involvement, laboratory findings, results of metabolic tests for mucopolysaccharidosis and mucolipidosis, results of genetic, pathologic, and immunologic tests, radiologic findings to evaluate skeletal dysplasia, and treatment options were collected...
March 2020: Archives of Rheumatology