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OBJECTIVE: To systematize evidence on the efficacy of botulinum toxin type A (BTA) in the treatment of bruxism measured through bite force or electromyography (EMG) at the masseter muscle. METHOD: Identification of relevant articles through databases PubMed, Web of Science, SCOPUS, Ovid and EBSCO and manual search were performed for sources from review articles. Studies scoring less than 3 on the Jadad Scale were excluded. RESULTS: Four articles were included after an exclusion of 333 articles. 3 articles measured EMG and 1 bite force. 1 article did not record a significant drop of activity, 1 article recorded reduction midway and at final endpoint. 2 articles recorded initial reduction, but a non significant difference at later follow up. CONCLUSION: The available research is inconclusive and does not show enough evidence that bruxism can be treated with BTA injections. However, promising results have been shown in individual studies and further research in this area is needed.

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Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal polyps. The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found. Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency.