CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis

Melorheostosis (MEL) is a rare disease of high bone mass with patchy skeletal distribution affecting the long bones. We recently reported somatic mosaic mutations in MAP2K1 in 8 of 15 patients with the disease. The unique anatomic distribution of melorheostosis is of great interest. The disease remains limited to medial or lateral side of the extremity with proximo-distal progression. This pattern of distribution has historically been attributed to sclerotomes (area of bone which is innervated by a single spinal nerve level).

Source: Bone - September 12, 2018 Category: Orthopaedics Authors: Smita Jha, Nicholas Laucis, Lauren Kim, Ashkan Malayeri, Abhijit Dasgupta, Georgios Z. Papadakis, Apostolos Karantanas, Miguel Torres, Timothy Bhattacharyya Tags: Full Length Article Source Type: research