Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive spond ylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) sh ort stature with hyperpigmented macules and an unusual facies, 2) proteinur ia with progressive renal failure, 3) lymphopenia with recurrent infections , and 4) cerebral ischaemia. Although 25 patients have been reported with t his disorder, the clinical course and phenotype of SIOD are not well charac terized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emp hasize the high incidence of cerebral ischaemia and ocular abnormalities, d efine the high incidence of thyroid dysfunction and blood cytopenia, and co nfirm the absence of effective and durable medical therapies. Conclusion Schimke immune-osseous dysplasia is a multi-system autosomal rec essive disorder with variable expression that affects the skeletal, renal, immune, vascular; and haematopoietic systems. Medical therapy is limited es pecially for more severely affected individuals.