title: Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.
abstract: Proteus syndrome (PS) is a sporadic and rare congenital disorder characterized by a patchy or mosaic postnatal overgrowth, sometimes involving the face. The onset of overgrowth typically occurs in infancy and can commonly involve skin, connective tissue, central nervous system, eyes and viscera. The progressive overgrowth causes severe complications, such as skeletal deformities, cystic lung disease, invasive lipomas, connective tissue hyperplasia, benign and malignant tumours and deep venous thrombosis with pulmonary embolism, which can cause premature death. This disorder is caused by somatic mosaicism for a specific activating AKT1 mutation that would be lethal in a non-mosaic state. In this report, current knowledge of the aetiology, the diagnosis and the craniofacial manifestations of the disorder are reviewed. The short-term management of a 7-year-old patient with unusual oral manifestations is described. For the first time mutation of AKT1 (c.49G > A) gene was detected both in cranial exostosis and in central odontogenic fibroma of the lower jaw.
authors.affiliation: University Paul Sabatier, Toulouse III, France; Department of Paediatric Dentistry, CHU of Toulouse, Toulouse, France; INSERM U1048, I2MC, Toulouse, France. Electronic address: marie_c_tlse@yahoo.fr.
authors.forename: Marie-Cécile
authors.initials: MC
authors.lastname: Valéra
authors.affiliation: University Paul Sabatier, Toulouse III, France; Department of Paediatric Dentistry, CHU of Toulouse, Toulouse, France.
authors.forename: Fréderic
authors.initials: F
authors.lastname: Vaysse
authors.affiliation: University Paul Sabatier, Toulouse III, France; Department of Genetics, CHU of Toulouse, Toulouse, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.affiliation: Cancer Genetics Unit, Institut Bergonié, Bordeaux, France; INSERM U916, University of Bordeaux, Bordeaux, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Longy
authors.affiliation: Department of Neuropaediatry, CHU of Toulouse, Toulouse, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Cances
authors.affiliation: University Paul Sabatier, Toulouse III, France; Department of Paediatric Dentistry, CHU of Toulouse, Toulouse, France; LU 51, Faculty of Dentistry, Toulouse, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Bailleul-Forestier
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010509:Periodontal Cyst / Q000000981:diagnostic imaging* / Q000235:genetics; D016715:Proteus Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics*; D011859:Radiography; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: C494918:AKT1 protein, human; D051057:Proto-Oncogene Proteins c-akt
keywords: AKT1; Central odontogenic fibroma; Craniofacial symptoms; Oral symptoms; Proteus syndrome