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., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.57, no.5, pp.509-513, 2015 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 5
  • Publication Date: 2015
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.509-513
  • Keywords: Schimke immuno-osseous dysplasia, cutaneous signs, SMARCAL1 gene
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.