Oral Myofibromatosis: Report of an Unusual Case and Literature Review

Abstract

Myofibromatosis is a rare condition involving multiple soft tissue tumours. It is believed to be a disease of infancy,presenting only in older individuals as solitary lesions (myofibromas). We present a case of oral myofibromatosis in an adolescent with sudden facial swelling, demonstrating the misleading nomenclature of the condition. Whilst the family history was unremarkable, extensive investigation had failed to diagnose the patient’s congenital genetic syndrome but had proposed a mutation in the PTEN gene as a cause for his ongoing myofibromatosis. Greater distinction is needed between myofibromatosis and myofibromas to draw reliable conclusions from the literature. Only one case clearly detailed myofibromatosis in an adult. Further information is also needed on medical and family histories to gain a better understanding of the disease’s aetiology. Only one case reported an autosomal dominant pattern of inheritance.