Pigmented villonodular synovitis: Four pediatric cases and brief review of literature.

Pigmented villonodular synovitis (PVNS) is a rare benign disorder of a joint which affects its synovium, tendon sheaths and bursas. While most cases of PVNS are adult patients aged between 20-50 years, few afflicted children have also been reported. Clinical signs of PVNS are insidious and non-specific. Pain, swelling and stiffness are the major symptoms. Magnetic Resonance Imaging (MRI) is the best radiological method for diagnosis of PVNS, as the initial X-ray is normal in early phase of disease in most cases. Therefore, diagnosis is often delayed or confused with mechanical disorders, haemophilic arthropathy, tuberculosis, juvenile idiopathic arthritis (JIA), and other disorders. Four paediatric PVNS cases are being reported in this case series with the aim to highlight that PVNS should be considered in the differential diagnoses of chronic monoarthritis. Two of our cases were initially misdiagnosed as JIA and the remaining two as Familial Mediterranean fever (FMF). They did not respond to conventional anti-inflammatory treatment and eventually only benefited from surgery. These four cases emphasize that the radiologist and clinician should collaborate carefully while managing any child with monoarthritis to ensure that the diagnosis of PVNS is not missed.

Association Between Vitamin D Receptor Polymorphism and Familial Mediterranean Fever Disease in Turkish Children.

Familial Mediterranean fever (FMF) is an autosomal recessive, inherited autoinflammatory disease characterized by recurrent, self-limited attacks of fever, and inflammation of serosal surfaces. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of children with FMF. We investigated VDR FokI (rs10735810), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms in 50 children with FMF and 150 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism. There was no significant difference between patients and controls for VDR FokI, TaqI, BsmI, and ApaI genotypes and alleles (p > 0.05). Results need to be supported by further investigations that define haplotype patterns for VDR gene polymorphisms in a larger group and different ethnic groups of FMF patients.

Health-related quality of life of school-age children with familial Mediterranean fever.

OBJECTIVES: To describe and compare the parent proxy-reported and child self-reported physical and psychosocial HRQOL of school age children who have FMF with healthy peers. METHODS: The Pediatric Quality of Life Inventory 4.0 (Peds QL 4.0) Generic Core Scales was used to measure HR-QOL. Fifty-one patients and 81 healthy peers were enrolled in the study. Patients were grouped according to their ages as : 1) Children (8-12 years) and 2) Adolescents (13-18 years). An accompanying parent completed the parent proxy-report of the Peds QL 4.0. RESULTS: Peds QL scores of children (8-12 years) with FMF were significantly lower than healthy peers for physical and psychosocial functioning for both child self-report and parent proxy-report. The parent proxy-report and child self-reported Peds QL scores of adolescent patients (13-18 years) with FMF were lower than the healthy group for physical, emotional and school functioning; however no significant difference was detected regarding the social functioning. Adolescents with FMF had significantly higher social scores when compared to the younger age group (8-12 years) with FMF, 92.6 +/- 8.5 and 82.2 +/- 17.6, respectively (p=0.028). The scores of physical, emotional and school functioning were similar in both groups (p=0.73, p=0.93, and p=0.028). Correlations among child self-report subscales and proxy-report subscales were all significant and varied from moderate to high. CONCLUSION: This study suggested that assessment of HRQOL has potential clinical implications for the healthcare needs of children and adolescents with FMF. Given the degree of reported impairment in their health-related quality of life, individualized counseling and interventions are needed.