Progressive melorheostosis in the peripheral and axial skeleton with associated vascular malformations: imaging findings over three decades

A 28-year old woman presented with Leri's disease (melorheostosis) and the rare combination of complex vascular malformations and lymphatic anomalies. Multifocal melorheostosis was segmental and unilateral, located in the lef t axial and peripheral skeleton, fifth thoracic vertebral body, fifth rib, left upper limb and lumbosacral spine (third lumbar body to first sacral se gment). Sacral involvement was associated with spinal canal stenosis. Addit ionally the patient had multiple nevi and had suffered from left hemiplegia since birth. Lymphangiectasia of the mesentery and thorax led to chylothor ax resistant to therapy for which the patient underwent a pleuropericardiec tomy. Death ensued due to respiratory failure.