Juvenile idiopathic arthritis-associated uveitis: a retrospective analysis from a centre of South Italy.

PURPOSE: To investigate the clinical and laboratory characteristics of the children affected by juvenile idiopathic arthritis (JIA) who developed uveitis. METHODS: In this retrospective study, we have examined data of 109 patients aged from 3 to 16 years, affected by JIA and followed at Paediatrics Rheumatology Clinic and Ophthalmology Clinic of University Hospital of Messina in the period from 2007 to 2017. The main outcome measures were clinical and laboratory findings related to JIA and ocular involvement. The prevalence of ocular signs and symptoms was determined and correlated with age. RESULTS: Twenty-one (19.3%) subjects developed uveitis. Two different peaks of age with ocular involvement were registered. The first occurred between 4 and 6 years and the second between 10 and 12 years. All subjects in the first group resulted to be female, presented oligoarticular arthritis and chronic anterior uveitis. In the second group, the 84% of patients were male with different types of JIA and acute anterior uveitis. The prevalence of ocular complications was higher in the first group. CONCLUSIONS: Two peaks of age emerged and were characterized by different clinical outcomes of arthritis and ocular involvement. The first occurred between 4 and 6 years and interested females affected by oligoarticular JIA who develop chronic anterior uveitis. The second appeared at 10-12 years and interested older males affected by different types of JIA with acute anterior uveitis. Early diagnosis and cooperation between paediatric rheumatologist and ophthalmologist are of great importance in the proper management of JIA children with uveitis.

Subclinical hypothyroidism in children: is it always subclinical?

Aim of this commentary is to report current knowledges on the main clinical and metabolic abnormalities which might be observed in children with longstanding and untreated subclinical hypothyroidism (SH) and to comment the most recent views about natural evolution of thyroid function in the cases with either idiopathic or Hashimoto's thyroiditis-related SH. On the basis of these preliminary remarks, the essential guidelines for an appropriate and tailored management of SH children are also proposed.

Immunoglobulin injection for the treatment of multiple oral ulcers in Stevens-Johnson syndrome.

BACKGROUND: Stevens-Johnson syndrome (SJS) is a rare genetic disorder. The syndrome presents with severe purulent conjunctivitis, stomatitis with mucosal necrosis, and purpuric macules. This syndrome is associated with hypersensitive reaction usually stimulated by infection, vaccination, systemic diseases, physical agents, foods or drugs. However, only few cases reported can be related to infectious agents, but the causative role of infectious microorganisms seems relevant in paediatric patients. Authors want to underline the positive response of a new way of therapy by immunoglobulin injection. CASE REPORT: This case describes a 10-year-old girl with several erosions disseminated in the oral cavity mucosa. The girl had skin erosions that led to the clinical diagnosis of SJS. The past medical history of the patient revealed that those symptoms occured every 6 months over the last 2 years with 2 consecutive weeks of acute manifestations. At that moment, the paediatrician decided for cortisone administration in order to manage the acute symptoms, but after 6 months a new acute episode was observed. For this reason the patient was referred to the Department of Genetics and Immunological Paediatrics. TREATMENT: Oral ulcers had been topically treated with an oral balance gel. Intravenous injection of immunoglobulin was then applied and the patient was discharged after 5 days of treatment with the total symptoms in remission. FOLLOW-UP: The patient was followed up 3 monthly over the next 24 months. At that time no relapse of the SJS was observed. CONCLUSION: The seriousness of this condition imposes a prompt recognition. Paediatric dentists should recognise the clinical signs of possible SJS as soon as possible in order to perform a quick diagnosis and initiate treatment.

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.

Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozygosis or two different mutations in heterozygosis in the MEFV gene; 20/42 had a single heterozygous mutation, and 12/42 did not have genetic alterations in MEFV. The analysis of the GLA gene conducted on all the samples revealed that three subjects, and some members of their families, had two different exonic mutations associated with FD. Family studies allowed us to identify eight other cases of FD, bringing the total undiagnosed subjects to 11/53. Analyzing the MEFV and GLA genes in patients with clinical diagnoses of FMF proved to be fundamentally important for the reduction of diagnostic errors.

A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family.

Common variable immunodeficiency (CVID) is a primary immune disorder characterized by low immunoglobulin serum levels and increased susceptibility to infections. Underlying genetic causes are only known in less than 15% of patients and encompass mutations in the genes encoding for ICOS, TACI, BAFF-R, CD19, CD20, CD81 and MSH5. TACI is the most frequently mutated gene among CVID patients. We report on two pediatric Italian male siblings with hypogammaglobulinemia and recurrent respiratory and gastrointestinal infections in association with a novel compound heterozygous TACI mutation. Both patients carry the I87N/C104R mutation that has not been reported yet. This results in aberrant TACI expression and abrogates APRIL binding on EBV B cells. This study identifies a novel combined mutation in TNFRSF13B increasing the spectrum of TACI mutations associated with CVID.

Gene-environment interaction in childhood asthma.

The importance of early life environmental influences on the etiology of asthma is implied by the observed geographic and temporal variation in the prevalence of the disease among children. There is evidence pointing to the role of exposure to allergen, various aspects of diet and hygiene-related factors in the etiology of asthma. There is also evidence that heritable factors influence the impact of hygiene-related exposures on the risk of having asthma. A number of important gene-environment interactions have been identified. These interactions point to the biology of environmental exposures as the involved genetic variation is suggestive of certain underlying mechanisms. Polymorphisms within genes coding for the toll-like receptor-lipopolysaccharide (TLR-LPS) signalling pathway may underlie variations in effects of hygiene-related exposures, including specifically endotoxin, on the risk of developing allergic sensitization and allergic disease. This review presents recent findings illustrating the role of gene-environment interactions in childhood asthma susceptibility.

Extracapillary glomerulonephritis during etanercept treatment for juvenile psoriatic arthritis.

Juvenile psoriatic arthritis was diagnosed in a girl of 15 and a half years old, who presented with severe poly-arthritis and psoriasis. Treatment with etanercept 25 mg by subcutaneous injections, twice a week was started. After 5 months of treatment, she developed microscopic hematuria, proteinuria and progressive acute renal failure with anaemia and hypertension. Renal histology, IF, and EM findings were consistent with severe extracapillary crescentic pauciimmune glomerulonephritis. The histology findings, the onset of renal symptoms after beginning treatment with etanercept, and the absence of any abnormality in the urine tests before administration of the drug, support the hypothesis of a rare case of secondary nephropathy due to treatment with an anti-TNF-alpha drug.

Preliminary evidence that etanercept may reduce radiographic progression in juvenile idiopathic arthritis.

OBJECTIVE: To investigate the rate of radiographic progression, as measured with the carpo-metacarpal ratio (Poznanski score), during etanercept (ETN) therapy in children with polyarticular juvenile idiopathic arthritis (JIA). METHODS: Patients included in the Italian ETN registry who had a standard radiograph of both hands and wrists in the posteroanterior view made at start of treatment and after 1 year were included in the study. The clinical response was assessed by means of the ACR Pediatric definition of improvement. Radiographic progression was determined by calculating the change in the Poznanski score between the baseline and the 1-year radiographs. RESULTS: A total of 40 patients were studied. The frequency of ACR pediatric 30, 50, and 70 response at 1 year was 77%, 72%, and 50%, respectively. The median change in the Poznanski score between baseline and 1 year was + 0.3 units, meaning that, on average, patients experienced improvement in radiographic progression. CONCLUSION: Our pilot study provides evidence that ETN is potentially capable of reducing the progression of radiographic joint damage in JIA. This finding deserves confirmation in a controlled trial.