Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst

European Journal of Medical Genetics
Marie-Cécile ValéraIsabelle Bailleul-Forestier

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.

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Citations

Dec 6, 2018·Topics in Magnetic Resonance Imaging : TMRI·Felipe S BarrosBruno P Soares
Nov 18, 2019·Oral Radiology·Luciana MunhozPlauto Christopher Aranha Watanabe
Aug 14, 2018·European Journal of Medical Genetics·Maella Severino-FreireJuliette Mazereeuw-Hautier

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