[Periodic fever syndrome associated with mutations in the TNF type 1 receptor gene: A differential diagnosis of familial Mediterranean fever that should not be overlooked in patients of Mediterranean origin]. / Le syndrome de fièvre prolongée associée aux mutations du gène du récepteur au TNF de type 1 : un diagnostic différentiel de la fièvre méditerranéenne familiale à ne pas méconnaître chez les patients d'origine méditerranéenne.

INTRODUCTION: Tumor Necrosis Factor Type 1 Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant autosomal autoinflammatory disease associated with mutations in the TNF type 1 receptor gene (TNFRSF1A). It is characterized by relatively long recurrent febrile seizures with an average duration of 7 days accompanied by arthralgia, myalgia, and usually a rash. In a patient of Mediterranean origin with recurrent fever, familial Mediterranean fever is the first diagnosis to be suspected by argument of frequency. METHODS: A retrospective observational study was conducted on patients from Mediterranean origin followed for TRAPS and included in the "Juvenile Inflammatory Rheumatism" (JIR) observational cohort in the national French autoinflammatory center. The age of onset of symptoms, age of diagnosis, number of years of wandering and treatments received were collected for each index case. RESULTS: Nine patients from 6 families of Mediterranean origin were included. A molecular diagnosis confirmed TRAPS in all patients. The median age at diagnosis was 26 years, the mean number of years of wandering was 17 years. The diagnosis of FMF was made first in all patients. AA amyloidosis revealed TRAPS in 2 patients. Colchicine was started without any efficacy in all cases. Five patients were treated with interleukin-1 inhibitory biotherapy with 100% efficacy. CONCLUSION: In a patient of Mediterranean origin presenting with recurrent febrile abdominal pain of AA amyloidosis, the first diagnosis to be suspected is FMF. Long relapses, dominant transmission, a non-Mediterranean relative, and the ineffectiveness of colchicine should evoke TRAPS.

Recurrence of a primary xanthoma of the humerus in a 9-year-old normolipidemic child.

Xanthomas are rare bone tumors that occur more often in patients with hyperlipidemia or metabolic disorders. We report the case of a 9-year-old child presenting with right shoulder pain after a trauma. A benign osteolytic lesion was found in the proximal humeral metaphysis. Curettage of the lesion was performed. Histologic findings confirmed intraosseous xanthoma. Although there was no evidence of dyslipidemia or metabolic disease, the patient suffered local recurrence at the 8-month follow-up, requiring a second surgery with bone grafting. This difficult and rare diagnosis must be kept in mind with osteolytic lesions.

[Sleeve fracture of the patella: A diagnosis not to be underestimated]. / Un diagnostic à ne pas méconnaître : la fracture avulsion de la patella.

Fracture of the patella is quite rare in children. However, sleeve fractures of the patella are specific to the child. We report on the case of a 12-year-old boy who suffered complete functional incapacity with hemarthrosis and symptoms that suggested rupture of the extensor apparatus. It occurred after abrupt extension of the knee during a high jump. The x-ray showed an ascended patella. The diagnosis was made and emergency surgical exploration showed a sleeve fracture. Surgical repair provided a good result, with a 2-year follow-up. A literature review found 59 cases in 20 studies with a majority of case reports with only two series over ten cases. The ages and mechanisms are identical to those observed in our study. Diagnosis is difficult and must be clearly determined. The two important signs are the ascension of the patella and the depression to its lower extremity. The prognosis is most often conditioned by rapid surgical repair.

[Osteoid osteoma on distal phalanx tip of second toe, without scintigraphy fixation]. / Ostéome ostéoïde de la phalange distale sans hyperfixation scintigraphique.

Osteoid osteoma is a very small painful, benign tumor, located preferentially on long bones. Cases on the phalanxes of the toes are very rare. Pain takes up nearly all the clinical presentation. Poor clinical signs and atypical location make diagnosis difficult and delayed. Sometimes, it can be confused with local infection. Various additional tests are described to help diagnosis. Technetium 99-m scintigraphy coupled with CT is the key exam with high sensitivity and morphological accuracy. We report on the case of a 10-year-old boy with an atypical location of osteoid osteoma on the distal phalanx tip of the second toe, without scintigraphy fixation and obvious nidus on X-ray and CT scan.