ABSTRACT
Joint manifestations in scleroderma (Scl) and polymyositis (PM) are dominated by inflammatory arthralgia. Arthritis is less common and preferentially affects the hands, wrists, knees, and ankles. Involvement of the hip has been rarely reported in the literature. We report a case of coxitis diagnosed in a patient suffering from scleroderma-polymyositis overlap syndrome successfully treated by ultrasound-guided infiltration of triamcinolone hexacetonide.
ABSTRACT
Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome (SAPHO) is a rare disease combining skin, bone, and joint manifestations. Its treatment remains a debated issue in the absence of a valid therapeutic strategy. The experience with tumor necrosis factor alpha (TNF alpha)-blocking agents is still small but encouraging. This therapy is reserved for refractory cases. The most commonly used agent is infliximab. Only few cases treated by etanercept have been reported in the literature. We report a new case treated by this biologic therapy and discuss its place in the treatment of SAPHO syndrome. A 30-year-old male, with a history of left clavicular osteitis that required surgical bone biopsy to rule out infection and malignancy, was admitted to the rheumatology department because of recurrent anterior chest pain, lower limb arthralgia, and sacroiliac pain. Laboratory findings revealed an inflammatory syndrome. Conventional radiography and computed tomography (CT) scan of the sternocostoclavicular region showed sclerosis and hyperostosis of the left clavicle. Right sacroiliitis was diagnosed based on the radiographic findings. Moreover, the patient reported palmoplantar pustulosis, thereby strengthening the diagnosis of SAPHO syndrome. As conventional treatment based on methotrexate, corticosteroids, and zoledronic acid was not effective, etanercept was initiated with good and rapid clinical and biological improvement. The diagnosis and treatment of SAPHO syndrome are challenging due to the heterogeneity of symptoms and unknown pathogenesis. Etanercept can be an effective therapy, especially in refractory cases. Further studies are needed in order to establish a therapeutic strategy.
ABSTRACT
INTRODUCTION: Primary biliary cirrhosis is an autoimmune disease that tends to progress to fibrosis and cirrhosis with hepatic failure. Primary biliary cirrhosis is often associated with other non- hepatic autoimmune diseases. An association with rheumatoid arthritis has been suggested to coexist in 1.8% to 5.6% of patients with primary biliary cirrhosis, but data supporting this association are scarce. The etiologic and pathogenetic mechanisms are not yet fully understood and several factors have been implicated. The therapeutic management must consider the two pathologies. CASE PRESENTATION: We describe the case of a 60-year-old Moroccan woman with severe erosive rheumatoid arthritis and primary biliary cirrhosis treated with rituximab. During treatment, we observed a good clinical and biological response of her rheumatoid arthritis but persistent abnormal liver function tests. CONCLUSION: B cells seem to play a major role in the pathogenesis of both rheumatoid arthritis and primary biliary cirrhosis. Additional studies are necessary to better determine the therapeutic role of rituximab in both diseases.
ABSTRACT
Proximal symphalangism is a rare autosomal dominant affection responsible for multiple joint ankylosis, it results from NOG gene mutation whose locus is on 17q21-22. This gene may be involved in secretory functions of glands such as ovarian function. Premature ovarian failure is idiopathic in 80% of cases but may be secondary to multiple etiologies including genetic. We report the case of a patient with proximal symphalangism and premature ovarian failure, and we discuss the possibility of genetic relationship between the two anomalies.
