Agneza Marija Kapović

PReS-FINAL-2118: Painless contractures of fingers in a female child

We describe a 6-year-old girl with a sudden onset of symmetrical and painless joint contractures of fingers on both hands, without obvious skin changes, following an exercise (roller skating) while she was holding hard for a wall rail. She was first presented to the Department of Neuropaediatrics with the suspected diagnosis of a neuromuscular disorder. During initial patient consultations that included an rheumatologist a marked blood eosinophilia was found. No telangiectasia, calcinosis, megacapillary, sclerodactyly, or mucosal involvements were present. The patient showed neither Raynaud phenomenon nor digital ulceration.

PReS-FINAL-2256: Panniculitis revealing quantitative alpha 1 antitrypsine deficiency

Panniculitis can arise from many underlying causes. Potential causes include connective tissue disease such as systemic lupus erythematosus and scleroderma, lymphoproliferative disorders, pancreatic disease, gout, chronic kidney disease, alpha 1-antitrypsin (alpha1 AT) deficiency and adverse reactions to medications. Alpha 1 AT deficiency is one of the most common hereditary disorders of Caucasians and Europeans, and commonly associated with pulmonary and hepatic injury. Panniculitis is an uncommon first manifestation of this deficiency, with fewer than 100 cases reported in the English-language scientific literature.