The Turkish Journal of Pediatrics 2015 , Vol 57 , Num 5
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia
1Division of Pediatric Neurology, Department of Pediatrics, 2Division of Pediatric Radiology, Department of Radiology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey, 3Department of Medical Genetics, The University of British Columbia, Vancouver, Canada. E-mail: ulyis@yahoo.com Received: 14 January 2015, Revised: 12 March 2015, Accepted: 27 July 2015 Polat Aİ, Yiş U, Ayanoğlu M, Hız AS, Güleryüz H, Öztürk-Atasoy T, Boerkoel CF. Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia. Turk J Pediatr 2015; 57: 509-513.

Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell deficiency, neurologic and cutaneous signs. Patients may have hyperpigmented skin lesions similar to café au lait spots. Symptoms and disease severity in Schimke immuno-osseous dysplasia varies from patient to patient. Genetic, epigenetic and environmental factors play role on the severity of the disease. Here we report on a patient with short stature, steroid resistant nephrotic syndrome and recurrent infections. Cutaneous findings and developmental delay helped us to reach the diagnosis of Schimke immuno-osseous dysplasia. A homozygous missense mutation in SMARCAL1 gene confirmed the clinical diagnosis. Keywords : Schimke immuno-osseous dysplasia, cutaneous signs, SMARCAL1 gene.

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