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

• Published in: Turkish journal of pediatrics Vol. 57; no. 5; pp. 509 - 513
• Main Authors: Polat, Ayşe İpek, Yiş, Uluç, Ayanoğlu, Müge, Hız, Ayşe Semra, Güleryüz, Handan, Öztürk Atasoy, Tülay, Boerkoel, Cornelius F
• Format: Journal Article
• Language: English
• Published: Turkey Hacettepe University Faculty of Medicine 01-09-2015
• Subjects: Arteriosclerosis - diagnosis; Arteriosclerosis - genetics; Child, Preschool; DNA Helicases - genetics; Homozygote; Humans; Immunologic Deficiency Syndromes - diagnosis; Immunologic Deficiency Syndromes - genetics; Male; Mutation, Missense; Nephrotic Syndrome - diagnosis; Nephrotic Syndrome - genetics; Osteochondrodysplasias - diagnosis; Osteochondrodysplasias - genetics; Pulmonary Embolism - diagnosis; Pulmonary Embolism - genetics; Skin - pathology
• ISSN: 0041-4301

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.