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Background: Kawasaki disease (KD) is an acute vasculitis in children. Eosinophilia, a reflection of the host's immune response that can cause tissue damage, has been associated with KD, with eosinophils preferentially accumulating in the microvasculature. In early-stage Kawasaki disease (KD), lesions (perivasculitis and vasculitis) first form in the microvessels, which can then extend to the larger vessels and result in coronary artery aneurysms, possibly leading to myocardial infarction even in young children. Overall, the prevalence of coronary artery aneurysms in children with Kawasaki disease is about 10-18%, which is much higher among those not treated early in the course of the illness. We performed this study to gain a better understanding of the initial pathogenesis of KD and to assess the relationship between eosinophilia and coronary artery disease.Methods: The data from forty-eight patients at Vali-asr Hospital of the Tehran University of Medical Sciences (1996-2006) were included in this cross-sectional descriptive analysis. The presence and degree of coronary artery disease was assessed by echocardiography. Data was analyzed via Fisher's exact test and student's t-test using SPSS software, v. 11.5.Results: Eosinophilia was seen in 10 cases (22%) and cardiac lesions were observed in 19 cases (41%). The frequency of microvessel lesions was significantly lower in patients with eosinophilia (10% with eosinophilia versus 50% without eosinophilia, p

Objective: Kawasaki disease (KD) occurs in five-year-old or younger children. This study aimed to evaluate the impact of high-dose intravenous immunoglobulin plus acetylsalicylic acid therapy on the prevention and treatment of coronary artery lesions and to evaluate the impact of high-dose acetylsalicylic acid (ASA) on the hearing of the patients. Materials and methods: In this retrospective cohort study, 31 patients with KD were followed from January 2012 to December 2015. The clinical, para-clinical, color Doppler echocardiogram and audiometry results were evaluated. Results: Overall, seven cases (22.6%) developed coronary artery aneurysm (CAA) in the acute phase of the disease, of whom only two still had CAA at the end of the treatment (6%). One of the five children with CAA recovery had a delay in the onset of treatment and one of two patients with persistent CAA at the end of treatment was admitted within the first 10 days. There was no evidence-based abnormal liver biochemical test. None of the patients developed sensorineural hearing loss (SNHL) on audiometry tests conducted before and after treatment. Conclusion: Recovery of coronary artery lesions was 71.43% after 28 days of the onset of treatment. The distribution of coronary artery aneurysm was not different in terms of the time of the treatment initiation (P-Value = 0.371). None of the children had a sensorineural hearing loss (SNHL) 48 hours and 4 weeks after treatment., (Copyright © 2021 Tehran University of Medical Sciences. Published by Tehran University of Medical Sciences.)

Background: Alteration in serum expression of Transforming Growth Factor-beta (TGF-β) and IL-10 have been suggested to play a role in the pathogenesis of Kawasaki Disease (KD). Inconsistent reports exist on the association of IL-10 polymorphisms with KD susceptibility and Coronary Artery Aneurysms (CAA)., Methods: A number of 110 paediatric patients with KD and 140 healthy individuals were recruited to investigate the frequency of Single Nucleotide Polymorphisms (SNPs) of TGF-β C/T at codon 10 (rs1982073), C/G at codon 25 (rs1800471) and IL-10 A/G at -1082 (rs1800896), C/T at -819 (rs1800871) and A/C at -592 (rs1800872) and their respective genotype and haplotypes. A comprehensive search was performed in MEDLINE and SCOPUS using the keywords of interleukin 10, transforming growth factor beta, and Kawasaki disease. Moreover, previous studies investigating the TGF-β and IL-10 polymorphisms in KD were evaluated. Review Manager Version 5.1 Software was used to perform meta-analysis., Results: There was no significant association between allelic or genotypic variants in the mentioned polymorphisms in TGF-β or IL-10 with KD or CAA. The only significant haplotypic variant was TC variant at codon 10, and 25 of TGF-β polymorphisms were associated with higher risk of KD. Meta-analysis of a total number of 770 patients vs. 1471 healthy controls showed no difference in the frequency of any of the IL-10 genetic variants in KD patients, regardless of the presence of CAA., Conclusion: Polymorphisms of TGF-β or IL-10 are not associated with additional risk for KD in Iranian population. IL-10 polymorphisms at -1082, -819 and -592 positions are not associated with KD, nor do they predict coronary artery aneurysm formation., Competing Interests: Conflict of Interest The authors declare no conflict of interest. Research reported in this publication did not receive any grants or financial support., (Copyright© 2019 Avicenna Research Institute.)

Objectives: Familial Mediterranean Fever (FMF) is one of the most prevalent periodic fever syndromes; MEFV, the responsible gene for the disease, is in the short arm of chromosome16. In the considerable count of the FMF patients, only one mutation is found in the MEFV and parents, who were the obligatory carriers for that mutation, were asymptomatic. The aim of this study was to evaluate these asymptomatic parents in regard to mutation in MEFV gene and similarity between parents and offspring patients., Methods: In this cross-sectional study, asymptomatic parents of FMF patients enrolled the study were referred to periodic fever clinic or pediatric rheumatology clinic of Tehran University of Medical Sciences. The patients should have at least one mutation in MEFV gene and none of them had any family history of autoinflammatory disease. Twelve mutations in MEFV gene were assessed in the parents by Vienna Lab FMF Strip Assay kit by MAS PCR/Reverse hybridization., Results: Forty-three patients and their parents participated in the study. Sixty-three percent (27) of patients were male. Onset of disease symptoms in 31 patients (72%) was before 4 years of old. Nine (21%) of the patients had homozygote, 16 (37%) compound heterozygote, and 17(40%) heterozygote for MEFV mutation; there was a case of complex alleles mutations (2%). M694V/M694V in 4 patients (9%) was the most homozygote genotype, and M694V/R761H in 4 (9%) and E148Q in 7 (16%) were the most compound heterozygote and heterozygote genotype, respectively. M694V, M680I, and E148Q were the most mutation in the parents. Overall, 41 patients had mutations similar to their parents' mutation, except 2 whose parents had no mutation, but a patient did., Conclusion: It seems that occurrence of new mutations in offspring is not prevalent among FMF patients and there are other reasons for different clinical presentation in similar mutation carriers. On the other hand, in ethnicities with high prevalence of FMF, new mutation in descendant may occur, infrequently.

Aim: Kawasaki disease (KD) is a systemic vasculitis of children associated with cardiovascular sequelae. Proinflammatory cytokines play a major role in KD pathogenesis. However, their role is both influenced and modified by regulatory T-cells. IL-1 gene cluster, IL-6 and TNF-α polymorphisms have shown significant associations with some vasculitides. Herein we investigated their role in KD., Methods: Fifty-five patients with KD who were randomly selected from referrals to the main pediatric hospital were enrolled in this case-control study. Single nucleotide polymorphisms (SNPs) of the following genes were assessed in patients and 140 healthy subjects as control group: IL-1α at -889 (rs1800587), IL-1β at -511 (rs16944), IL-1β at +3962 (rs1143634), IL-1R at Pst-I 1970 (rs2234650), IL-1RN/A at Mspa-I 11100 (rs315952), TNF-α at -308 (rs1800629), TNF-α at -238, IL-6 at -174 (rs1800795) and IL-6 at +565., Results: Twenty-one percent of the control group had A allele at TNF-α -238 while only 8% of KD patients had A allele at this position (P = 0.003, OR [95%CI] = 0.32 [0.14-0.71]). Consistently, TNF-α genotype GG at -238 had significant association with KD (OR [95% CI] = 4.31 [1.79-10.73]). Most controls carried the CG genotype at IL-6 -174 (n = 93 [66.9%]) while GG genotype was the most common genotype (n = 27 [49%]) among patients. Carriers of the GG haplotype at TNF-α (-308, -238) were significantly more prevalent among the KD group. No association was found between IL-1 gene cluster, allelic or haplotypic variants and KD., Conclusion: TNF-α GG genotype at -238 and GG haplotype at positions -308 and -238 were associated with KD in an Iranian population., (© 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.)

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Farsi language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 102 JIA patients (14.7% systemic JIA, 67.6% oligoarticular, 15.7% RF negative polyarthritis, 2.0% other categories) and 198 healthy children, were enrolled in three paediatric rheumatology centres. Notably, none of the enrolled JIA patients is affected with enthesitis-related arthritis or undifferentiated arthritis. The JAMAR components discriminated healthy subjects from JIA patients. All JAMAR components revealed satisfactory psychometric performances. In conclusion, the Farsi version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.

Aim: Kawasaki disease (KD) is a systemic vasculitis of medium-sized arteries. High levels of interleukin 4 (IL-4) and the dominance of Th2 cytokines seem to be a key feature in the acute phase of KD. In this study, the role of IL-4 and IL-4R gene polymorphisms were investigated in Iranian children with KD., Methods: Fifty-five patients with KD and 140 healthy subjects as a control group were enrolled in this study. Single nucleotide polymorphisms (SNPs) of IL-4 gene at positions -1098 (rs2243248), -590 (rs2243250) and -33 (rs2070874), as well as IL-4RA gene at position +1902 (rs180275) were assessed in patients and the control group., Results: The C allele and CC genotype of IL-4 gene at position -590 and at position -33 had positive associations and the CT genotype at -590 was negatively associated with KD (odds ratio (95% CI) = 0.04 [0.01-0.09]). The haplotype TCC was more frequent among the patients, while the haplotypes TTT and TTC had a negative association with KD., Conclusion: IL-4 polymorphisms might be associated with KD in an Iranian population., (© 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.)

Objectives: The aim of this study is to identify the associations between interleukin 10 (IL-10) and transforming growth factor beta 1 (TGF-β1) gene polymorphisms and individual susceptibility to juvenile idiopathic arthritis (JIA) in a group of Iranian patients., Background: Cytokine genes, including IL-10 and TGF-β1, are known to play important roles in the pathogenesis of JIA., Methods: Using polymerase chain reaction with sequence-specific primers method, the frequency of alleles, genotypes and haplotypes of IL-10 (positions -1082, -819, -592) and TGF-β1 (codon 10, codon 25) single-nucleotide polymorphisms (SNPs) were investigated in 55 patients with JIA as a case group and compared with 140 healthy unrelated controls., Results: The G allele was significantly less frequent at TGF-β1 codon 25 in patients with JIA than in the controls (p < 0.01). The frequency of CT genotype at TGF-β1 codon 10 was found to be higher in healthy individuals in comparison with that in patients group (p = 0.04). We observed no differences in the frequency of alleles, genotypes and haplotypes of IL-10 gene between the groups of patients and controls., Conclusions: Considering the low frequency of existence of TGF-β1 G allele at codon 25 as well as TGF-β1 CT genotype at codon 10 in patients with JIA, it seems that these cytokine gene polymorphisms could play role as the protective factors against JIA.

Background: Juvenile systemic lupus erythematosus (JSLE) is a multi-system autoimmune disorder of unknown origin. Given the importance of the contribution of pro-inflammatory cytokines, including tumor necrosis factor-alpha (TNF-α), towards the pathogenesis of JSLE, this study was performed to assess TNFA gene polymorphisms in a case-control study., Methods: Fifty nine patients with JSLE were enrolled in this study as case group and compared with healthy control subjects. The frequency of alleles, genotypes, and haplotypes of TNFA single-nucleotide polymorphisms (SNPs) at positions -308 and -238 were evaluated, using polymerase chain reaction with sequence-specific primers method., Results: The G allele at position -238 in TNFA promoter region was significantly more frequent in patients with JSLE than in the healthy controls (P value<0.001), while the frequency of A allele at the same position was significantly lower than controls. Furthermore, a significant positive association for G/G genotype at the same position was detected in patients' group compared with control subjects (P value<0.001). The GA haplotype of TNFA (positions -308, -238) was significantly less frequent in case group than in controls (P value<0.001), while GG was the most frequent haplotype for TNFA in the patient group, compared to controls (P value<0.01)., Conclusions: Pro-inflammatory cytokine gene polymorphisms may influence susceptibility to JSLE. Particular TNFA gene variants are associated with JSLE and could be used as a genetic marker for susceptibility to JSLE., (Copyright © 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)

As abundant types of genetic predisposition and environmental factors seem to be associated with the development of juvenile-onset systemic lupus erythematosus (JSLE), we investigated the gene polymorphisms of two anti-inflammatory cytokines, including interleukin-10 (IL-10) and transforming growth factor-beta (TGF-β), which were previously found to be associated with SLE in adults, in a group of patients with JSLE. We studied a group of 59 Iranian patients with JSLE in comparison with 140 healthy controls and assessed the frequency of alleles, genotypes, and haplotypes of IL-10 and TGF-β single-nucleotide polymorphisms (SNPs) using polymerase chain reaction with sequence-specific primers method. The CA genotype was significantly more frequent at position -592 in IL-10 in patients with juvenile-onset systemic lupus erythematosus than in the controls (P = 0.01). Genotype CC was detected at the same position in 32.7 % of the patients; this frequency was significantly lower than the frequency of 50.7 % recorded in the healthy controls (P = 0.03). The TC haplotype of TGF-β (codon 10, codon 25) was significantly more frequent in the patients with juvenile-onset systemic lupus erythematosus than in the healthy controls (P = 0.02). Nevertheless, these significant associations disappear after Bonferroni correction. Our findings suggest that IL-10 (-1082, -819, -592) and TGF-β (codon 10, codon 25) gene variants may not be associated with the development of JSLE in Iranian population.

This study evaluated the clinical features, course, and outcomes of Iranian children with juvenile dermatomyositis (JDM), juvenile polymyositis (JPM), and other uncommon connective tissue disorders. A chart review of 85 Iranian children with JDM and JPM was performed during a 10-year period from 2003 to 2013. The patients' clinical signs and symptoms, laboratory data, and other factors affecting clinical outcomes were recorded using questionnaires. Statistical analysis was performed using SPSS software version 20. In all, 40 boys and 45 girls were included in the study (F/M, 1.1:1). Disease frequency was significantly higher in boys aged <5 years (F/M, 0.4:1) and girls aged >5 years (F/M, 1.6:1). The combined mean age at diagnosis was 7.5 years. Muscle weakness, particularly in the proximal muscles of lower extremities (96 %); fatigue (83 %); and heliotrope rash (71 %) were the most frequently recorded symptoms. Elevated lactate dehydrogenase level was the most common enzyme disturbance (98 %). Monocyclic course was seen in 60 % of patients. The mean treatment duration was 3 years. The incidence rate of complications such as calcinosis, lipodystrophy, and growth disturbances was 20, 9, and 30 %, respectively. The occurrence of these complications in patients with monocyclic disease was significantly lower. Vital organ involvement led to the death of four patients. The incidence of calcinosis was significantly lower in patients having a shorter interval between disease onset and treatment. Two important complications, failure to thrive and lipodystrophy, were significantly higher in patients having antinuclear antibodies. The incidence of the above three complications was higher in patients with polycyclic or continuous chronic disease. Respiratory failure was the most common cause of patient mortality.

Background: Juvenile systemic lupus erythematosus (JSLE) is a polygenic, autoimmune disorder of unknown origin. As proinflammatory cytokines, including interleukin-6 (IL-6) and the interleukin-1 (IL-1) family, seem to contribute to the pathogenesis of JSLE, this investigation was performed to assess the associations of particular single nucleotide polymorphisms (SNPs) of IL-6 and IL-1 genes in a case-control study., Methods: Fifty nine JSLE cases were recruited for this study as the patient group, and were compared against 140 healthy, unrelated, control subjects. Using the polymerase chain reaction with the sequence-specific primer method, genotyping was carried out for the IL-6 gene at positions -174 and nt565, as well as the IL-1α gene at position -889, the IL-1β gene at positions -511 and +3962, the interleukin-1 receptor (IL-1R) gene at position Pst-I 1970, and the interleukin-1 receptor antagonist (IL-1Ra) gene at position Mspa-I 11100., Results: RESULTS of the analyzed data revealed a remarkable, positive association for the promoter sequence of the IL-1β gene at position -511 for T/T in the patient group compared with healthy controls (P value, 0.03). Furthermore, a significant negative association was found between the T/C genotype at the same position on the IL-1β gene in juvenile SLE (P value, 0.03)., Conclusions: cytokine gene polymorphisms might play a role in the pathophysiology of JSLE. Particular IL-1 gene variants could affect individual susceptibility to JSLE.

Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. In the first part of this paper, we presented a guideline for approaching patients with periodic fever and reviewed two common disorders with periodic fever in Iranian patients including familial Mediterranean fever (FMF) and periodic fever syndromes except for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). In this part, we review other autoinflammatory disorders including hyper IgD, tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin associated periodic syndromes, autoinflammatory bone disorders and some other rare autoinflammatory disorders such as Sweet's and Blau syndromes. In cryopyrin associated periodic syndromes group, we discussed chronic infantile neurologic cutaneous and articular (CINCA) syndrome, Muckle-Wells syndrome and familial cold autoinflammatory syndrome. Autoinflammatory bone disorders are categorized to monogenic disorders such as pyogenic arthritis, pyoderma ;gangraenosum and acne (PAPA) syndrome, the deficiency of interleukine-1 receptor antagonist (DIRA) and Majeed syndrome and polygenic background or sporadic group such as chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome are classified in sporadic group. Other autoinflammatory syndromes are rare causes of periodic fever in Iranian system registry.

Wegener's granulomatosis or granulomatosis polyangiitis (GPA) is an uncommon chronic systemic vasculitis in children. The aim of this study was to describe pediatric patients with GPA in Iran. We studied records of all patients with GPA diagnosis who were referred to all Iranian Pediatric Rheumatology Division from 2002 to 2011. A total of 11 patients (5 females and 6 males) enrolled in this study. In children less than 15 years old, the prevalence of GPA is 0.6 per million. The mean age of GPA diagnosis was 11 years and average delay diagnosis was 20 months. Mortality rate was 18.1% due to pulmonary vasculitis and infection. The most common organ system involvement was upper and lower respiratory tract involvement (81.8% and 63.9%, resp.). Other common manifestations were renal (36.3), skin (27.2%), and eye involvement (18.2%).

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic inflammatory disorder characterized by progressive heterotopic ossification presenting as recurrent soft tissue masses and swelling which may cause disabling, restricted joint mobility. Congenital malformations of the hallux are characteristic features of classic FOP, predating the appearance of disabling features. As no definite treatment is available, the early diagnosis and prevention of exacerbating factors may lead to significant benefits in terms of the life quality of patients. A retrospective study of 12 consecutive FOP patients referred to and admitted in the rheumatology unit at an urban tertiary care academic center between 1991 and 2011. Data, such as age, gender, and past medical history, were collected from the medical history, physical examination, and skeletal survey in order to characterize the clinical presentations. All 12 children (six boys and six girls; ages 2.0-13.5 years) had congenital malformations of the great toes (microdactyly and hallux valgus deformity), in addition to heterotopic ossification presenting as multiple soft tissue tumor-like swellings. Spinal involvement, most notably in the cervical region, suggestive of an early FOP, was present in 83.3 %. Eleven patients (91.6 %) had a prior history of direct physical trauma, while 7 of 11 (63.6 %) had undergone invasive diagnostic procedures, both correlating with the exacerbations of their condition. Clinical awareness of fibrodysplasia ossificans progressiva and its early diagnostic features, particularly congenital malformations of the hallux, during a thorough neonatal examination may lead to an early diagnosis preventing the development of disabling, practically irreversible lesions of heterotopic ossification. Genetic and molecular studies can play a considerable role in the diagnosis of FOP in suspected cases. Early institution of prophylactic and precautionary measures, such as categorical avoidance of trauma and invasive procedures, can significantly reduce the debilitating acute exacerbations of the condition.

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.

Pulse therapy is one of the most well-known methods used in the treatment of juvenile rheumatoid arthritis. This study assessed the outcome of methylprednisolone pulse therapy, its rate of efficacy, and its associated complications in patients with juvenile rheumatoid arthritis (JRA). This cross-sectional study was performed on 120 children with JRA who attended the Pediatric Ward of Imam Khomeini Hospital from 1994 to 2004 and who had undergone around 500 cycles of methylprednisolone pulse therapies. Clinical signs, including signs of improvement, complications, or recurrence of disease, were noted. SPSS version 11.5 and paired t test were used to compare the variables prior to and after treatment. Clinical signs observed included: feeling of weakness (100%), malaise (98.3%), loss of appetite (93.3%), fever (88.3%), skin rash (28%), lymphadenopathy (18.3%), serositis (4.2%), splenomegaly (3.3%), and hepatomegaly (1.7%); however, none of these findings were present after pulse therapy. The number of swollen and tender joints, duration of morning stiffness, erythrocyte sedimentation rate, C-reactive protein, and hemoglobin levels showed significant improvement after pulse therapy. Complications of pulse therapy included tachycardia (n = 16, 13.3%), hypertension (n = 10, 8.3%), headache (n = 2, 1.7%), and flashing (n = 2, 1.7%). The mean duration of remission was 3.3 +/- 0.7 months.

Juvenile Rheumatoid Arthritis (JRA) is a disease of unknown etiology. A total of 50 patients with JRA who were hospitalized in the Pediatrics Rheumatology Ward of Imam Khomeini Hospital in Tehran during the years 2001-2002, were assessed serologically (IgM and IgG specific viral capsid antigens) for EBV infection and their response to therapy was studied. Minimum age of the patients was at least 6 months and mean age was 60.96 plus/minus 43.46 months. EBV infection was seen in 44 (88%) patients 24 of whom were girls and 20 boys. Ninety two percent of girls and 83% boys were infected with the virus. Ebstein barr virus (EBV) infection was seen in 33 cases, 6 cases, 4 cases and 1 case in the polyarticular, pauciarticular, systemic and spondylitis group, respectively. Fifty four percent of EBV-positive patients with JRA did not respond to the classic therapy. EBV virus is involved in the pathogenesis of JRA and patients with EBV are in greater risk of developing JRA.

Fibrodysplasia ossificans progressiva is a rare and disabling syndrome, which is characterized by heterotopic ossifications and skeletal deformities. So far, around 200 patients with fibrodysplasia ossificans progressiva have been reported in the world literature. Herein, we analyze the clinical records of 7 known cases of fibrodysplasia ossificans progressiva from Iran who were admitted to the pediatrics wards of our centers between 1983 and 2002, and present the radiologic findings.

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.