No abstract

Acute lymphoblastic leukemia (ALL) presenting with musculoskeletal pain may be difficult to distinguish from juvenile idiopathic arthritis (JIA). The objective of this study, which separates it from most studies investigating these two diseases, is to determine the role of plain radiography in the initial approach toward patients presenting with musculoskeletal symptoms and to look for signs suggestive of each of the two disease entities. X-rays of patients referred to our center for musculoskeletal symptoms and ultimately diagnosed with JIA or ALL over a period of 10 years were studied retrospectively. The X-rays had been performed in the preliminary stage of the disease process and before the initiation of specific therapeutic measures. Soft tissue swelling, osteopenia, radiolucent metaphyseal bands, coarse trabeculation, and periosteal reactions were studied, and data analysis was performed by SPSS. Among a total of 174 patients, 118 had been diagnosed with JIA and 56 with ALL. The average age of JIA patients and ALL patients were 7.5 and 7.2 years, respectively. Soft tissue swelling was significantly more common among JIA patients (89.8%) than among those with ALL (1.8%) (P < 0.0001). Therefore, it is of the utmost importance to note the presence or absence of soft tissue swelling on plain radiography in the initial diagnostic approach. Osteopenia was seen in 60.2% of JIA patients compared with 14.3% of ALL patients (P < 0.0001). Radiolucent metaphyseal bands were seen among 7.1% of ALL cases but were notably absent in all cases of JIA. Coarse trabeculation was significantly higher in patients with ALL (7.1% ) than among JIA patients (0.8%). Periosteal reactions were seen in 6.8% of JIA group compared with 1.8% of ALL patients. We concluded that plain X-ray may be useful in selecting patients requiring bone marrow examination among those presenting with musculoskeletal symptoms mimicking JIA.

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscle and endocrine glands. The clinical features are evident either at birth or within 6 months of life. The disease is manifested by painful progressive joint contractures, thick skin with hyperpigmentation, susceptibility to bone fractures, infections, failure to thrive and persistent diarrhea due to protein-losing enteropathy. Here, we report three unrelated Iranian children with a limited range of joint movements in the first month of life, skin hyperpigmentation and painful joint contractures. Pathological findings also confirmed the diagnosis of ISH in these patients.

Juvenile systemic lupus erythematosus (JSLE) is a chronic, recurrent multisystem inflammatory disease, caused by a combination of environmental events and genetic risk factors. As cytokines, including interleukin-4 (IL-4), seem to have a role in the pathogenesis of JSLE, the investigation was performed to evaluate the associations of specific single nucleotide polymorphisms (SNPs) of IL-4 and IL-4RA genes in a case-control study. Fifty-nine patients with JSLE were recruited in this study as patients' group and compared with 140 healthy volunteers. Genotyping was performed for IL-4 gene at positions -1098, -590 and -33, as well as IL-4 receptor α (IL-4RA) gene at position +1902, using polymerase chain reaction with sequence-specific primers method. Following alleles were found to be more common among patients with JSLE: C at -590 and -33 and T at -1098 of IL-4 gene (P value < 0.001; OR = 4.6, P value < 0.001; OR = 2.7 and P value < 0.001; OR = 2.1, respectively). Additionally, significant positive associations for the following genotypes were recognized in JSLE cases, compared with controls: C/C at -33, C/C at -590 and T/T at -1098 of IL-4 gene (P value < 0.001; OR = 5.3, P value < 0.001; OR = 29.5 and P value < 0.001; OR = 3.3, respectively), while following genotypes were less frequent among patients with JSLE: T/C at -33 and -590 and T/G at -1098 of IL-4 gene (P value < 0.001; OR = 0.1, P value < 0.001; OR = 0.03 and P value < 0.001; OR = 0.3, respectively). Furthermore, we noticed an astonishing negative haplotypic association for JSLE for IL-4 (positions -1098, -509 and -33) TTC, GCC and TTT haplotypes (P value < 0.001). There was also a significant relationship between TCC haplotype (IL-4 gene at positions -1098, -590 and -33) and having JSLE (P value < 0.001). On the other hand, we found no significant associations between IL-4R polymorphisms and the susceptibility to JSLE. Cytokine gene polymorphisms may influence susceptibility to JSLE. Particular IL-4 gene variants are associated with JSLE and might have a role in the pathophysiology of disease.