Evidence-based decision support for pediatric rheumatology reduces diagnostic errors.

Background: The number of trained specialists world-wide is insufficient to serve all children with pediatric rheumatologic disorders, even in the countries with robust medical resources. We evaluated the potential of diagnostic decision support software (DDSS) to alleviate this shortage by assessing the ability of such software to improve the diagnostic accuracy of non-specialists.

Methods: Using vignettes of actual clinical cases, clinician testers generated a differential diagnosis before and after using diagnostic decision support software.

Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade.

The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever disease in children. However, the pathogenesis is unknown. Using a systems biology approach we analyzed blood samples from PFAPA patients whose genetic testing excluded hereditary periodic fevers (HPFs), and from healthy children and pediatric HPF patients.

Ocular involvement in children with localised scleroderma: a multi-centre study.

Background: Most of the available documentation in the literature on ocular involvement in localised scleroderma (LS) are descriptions of single cases in adult patients. This article reports the frequency and specific features of ocular involvement in a large cohort of children with juvenile LS (JLS).

Methods: Data from a large, multi-centre, multinational study of children with LS were used to collect and analyse specific information on ocular involvement.

The Pediatric Rheumatology European Society/American College of Rheumatology/European League against Rheumatism provisional classification criteria for juvenile systemic sclerosis.

Objective: To develop criteria for the classification of systemic sclerosis (SSc) in children (juvenile SSc).

Methods: The study consisted of 3 phases: 1) collection of data on the signs and symptoms of actual patients with juvenile SSc that are useful for defining involvement of a particular organ; 2) selection of the parameters essential for the classification of juvenile SSc and preparation of a set of provisional classification criteria (PCC) using 2 Delphi surveys; 3) consensus conference consisting of 2 steps: discussion and rating of clinical profiles of 160 patients with definite juvenile SSc, possible juvenile SSc, or other fibrosing diseases as "having or not having juvenile SSc," using nominal group technique, and defining those PCC with the best statistical performance and highest face validity by using the clinical profiles of patients with definite juvenile SSc as the gold standard.

Results: In phase 1, 55 centers submitted clinical data on 153 patients with juvenile SSc.

Systemic sclerosis in childhood: clinical and immunologic features of 153 patients in an international database.

Objective: To determine the clinical and immunologic features of systemic sclerosis (SSc) in a large group of children and describe the clinical evolution of the disease and compare it with the adult form.

Methods: Data on 153 patients with juvenile SSc collected from 55 pediatric rheumatology centers in Europe, Asia, and South and North America were analyzed. Demographic, clinical, and immunologic characteristics of children with juvenile SSc at the onset, at diagnosis, and during the disease course were evaluated.

Localized scleroderma in childhood is not just a skin disease.

Objective: Juvenile localized scleroderma is usually considered a disease that is confined to the skin and subcutaneous tissue. We studied the prevalence and clinical features of extracutaneous manifestations in a large cohort of children with juvenile localized scleroderma.

Methods: Data from a multinational study on juvenile scleroderma was used for this in-depth study.

Juvenile scleroderma.

Scleroderma is a relatively rare disorder in children. Among its subsets, localized scleroderma is more common in children than the systemic variety. No exciting new finding was reported in 2001 specifically applicable to childhood scleroderma.