Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia
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...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2015-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1276 |
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| author | Ayşe İpek Polat Uluç Yiş Müge Ayanoğlu Ayşe Semra Hız Handan Güleryüz Tülay Öztürk Atasoy Cornelius F Boerkoel |
| author_facet | Ayşe İpek Polat Uluç Yiş Müge Ayanoğlu Ayşe Semra Hız Handan Güleryüz Tülay Öztürk Atasoy Cornelius F Boerkoel |
| author_sort | Ayşe İpek Polat |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-c27e535951774f70bc7bed6e1deace28 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2015-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-c27e535951774f70bc7bed6e1deace282025-08-20T02:01:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212015-10-01575Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasiaAyşe İpek Polat0Uluç YişMüge AyanoğluAyşe Semra HızHandan GüleryüzTülay Öztürk AtasoyCornelius F BoerkoelDivision of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey. ulyis@yahoo.com. 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. https://turkjpediatr.org/article/view/1276 |
| spellingShingle | Ayşe İpek Polat Uluç Yiş Müge Ayanoğlu Ayşe Semra Hız Handan Güleryüz Tülay Öztürk Atasoy Cornelius F Boerkoel Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia The Turkish Journal of Pediatrics |
| title | Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia |
| title_full | Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia |
| title_fullStr | Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia |
| title_full_unstemmed | Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia |
| title_short | Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia |
| title_sort | importance of neurologic and cutaneous signs in the diagnosis of schimke immuno osseous dysplasia |
| url | https://turkjpediatr.org/article/view/1276 |
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