Mandibular osteoma in the encephalocraniocutaneous lipomatosis

Abstract

Encephalocraniocutaneous lipomatosis is a rare congenital disorder characterized by an abnormal development of adipose tissue, and is of unknown pathogenesis. Catherine Haberland and Maurice Perou first diagnosed this disorder in 1970. To our knowledge, approximately 25 patients have been reported with this diagnosis but so far, only 1 patient has been reported in Poland by Roszkowski and Dabrowski in 1997. At that time she was a 13-year-old girl, who was neurosurgically treated. The authors followed the same patient (now 21 years old), who was referred to the Department of Cranio-Maxillofacial Surgery of the Medical University of Lodz for osteoma of the mandible. Partial resection of the mandible was performed on account of the size of the lesion. The mandible was reconstructed by an iliac crest bone graft fixed by 2 titanium plates. The surgical procedure is described. Encephalocraniocutaneous lipomatosis is a very rare syndrome. Most of the cases described in the literature presented lipomas of the skin with neurological and ophthalmological disturbances. Only a few authors described jaw tumours and no information was found on such big osteomas to this syndrome.