Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia

Polat A. İ., YİŞ U., Ayanoglu M., HIZ A. S., GÜLERYÜZ UÇAR H., Ozturk-Atasoy T., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.57, sa.5, ss.509-513, 2015 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 57 Sayı: 5
  • Basım Tarihi: 2015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.509-513
  • Anahtar Kelimeler: Schimke immuno-osseous dysplasia, cutaneous signs, SMARCAL1 gene, SMARCAL1
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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 cafe 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.