Previously, dominant partial interferon-gamma receptor 1 (IFN-g-R1) susceptibility to environmental mycobacteria was found with IFNGR1 deletions or premature stop. Our aim was to search for IFNGR1 variants in patients with mycobacterial osteoarticular lesions. Biopsies from the patients were examined for acid-fast bacilli, inflammatory cell infiltration, and mycobacterial niacin. Mycobacterial rRNA was analyzed using a target-amplified rRNA probe test. Peripheral-blood-leukocyte genomic DNA was isolated from 19 patients using the QIAamp DNA Mini Kit, and all IFNGR1 exons were sequenced using an ABIPRISM 3130 device. After the discovery of an exon 5 variant, a Polish newborn population sample (n = 100) was assayed for the discovered variant. Splice sites and putative amino acid interactions were analyzed. All patients tested were positive for mycobacteria; one was heterozygous for the IFNGR1 exon 5 single-nucleotide-missense substitution (g.20746A>G, p.Ile183Val). No other variant was found. The splice analysis indicated the creation of an exonic splicing silencer, and alternatively, molecular graphics indicated that the p.Ile183Val might alter beta-strand packing (loss of van der Waals contacts; Val183/Pro205), possibly altering the IFN-g-R1/IFN-g-R2 interaction. The probability of non-deleterious variant was estimated as <10%. Heterozygous IFNGR1:p.Ile183Val (frequency 0.003%) was found to be coincidental with mycobacterial osteomyelitis. The small amount of variation detected in the patients with osteoarticular lesions indicates that screens should not yet be restricted: Intronic variants should be analyzed as well as the other genes affecting Type 1 T-helper-cell-mediated immunity.

Caffey-Silverman syndrome, or infantile hyperostosis, is a rare condition of unclear etiology and pathogenesis affecting the skeletal system and the surrounding soft tissues. It is characterized by indurated swelling of soft tissues and cortical bone hyperostosis. The changes are usually multiple and affect such parts as the mandible, scapulae, ribs, clavicles, and forearm and shank bones. When long bones are affected, the lesions are typically limited to shafts, with the sparing of meta- and epiphyses. The prognosis is usually good and, in most patients, the changes resolve spontaneously after several months to over a year, leaving no permanent sequelae. Caffey-Silverman syndrome needs to be distinguished from osteitis, for which it is most often mistaken. We present a case of an early form of Caffey-Silverman syndrome. The course of disease in this form is usually severe, with multifocal lesions, and the typical self-limiting regression is not complete. In our patient, a systemic musculoskeletal condition was already suspected following the detection of skeletal defects in a prenatal US examination. Physical and radiological work-up in the first weeks of life revealed the typical signs of congenital Caffey-Silverman syndrome. Several years of follow-up showed gradual regression of the bone deformities with persistent lower-extremity bowing. Due to a positive family history for Caffey-Silverman syndrome, the patient's pedigree was prepared. On the basis of the history data, existing radiographs and in- and outpatient medical records, Caffey-Silverman syndrome was confirmed in 10 family members. It was established that the cases of Caffey-Silverman syndrome in the patient's family were characterized by diverse phenotypic expression and different times of onset.

bone fractures in children is a problem that has been recently addressed with growing attention. The unique specifics of fractures in the developmental age compared with fractures in adult patients requires an appropriate approach. Disregarding the issue may lead to long-lasting complications, including severe skeletal deformities. Methods: The analysis included 821 children (575 boys, 246 girls) admitted to the hospital with long bone fractures. Data were obtained from medical records from between 2005 and 2014. Results: Long bone fractures were the cause of hospitalizations in 64.9% of cases during the spring-summer period. The average age was 12 years old. Fractures occurred more often in boys. The main cause of fractures in the test group was indirect trauma during sports activities (32%). Fractures of the distal meta and epiphysis of the radius bone were the most common result of trauma in children and adolescents (12.4 % of all fractures). A total of 32.1% of fractures of the upper limbs concerned the radius bone and 12% concerned the supracondylar humeral bone fractures. In lower limb fractures, the most common site was the distal part of the tibia bone (8.9% of all fractures). In surgical treatment, 399 (43.3%) K-wires were used. Plate stabilization was performed 225 times (24.5%), screw fixations 119 times (12.9%), FIN/ESIN fixations 141 times (15.3%), tension bands 11 times (1.2%), intramedullary nailing 19 times (2.1%), and external stabilizations 4 times (0.5%). Fracture healing complications were observed in 3 cases in patients with polytrauma. Conclusions: Risk of a long bone fracture grows with a child’s age. Fractures are more frequent in boys. We observed triple the number of fractures that needed surgery yearly from 2005 to 2014. The increase was linear. The choice of surgical treatment method depends on the fracture type, dislocation size, and the patient’s age.

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