Disease relevance of Melorheostosis

• Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis [1].
• CONCLUSION: In children presentation of melorheostosis, is more likely be as limb length discrepancy, deformity or joint contractures which may be seen before radiographic evidence of any bony changes [2].

High impact information on Melorheostosis

• Successful symptomatic treatment of melorheostosis with nifedipine [3].
• No evident relationships among rheumatoid arthritis, melorheostosis and renal phosphate handling were observed in this case [4].
• The additional presence of osteopoikilosis lesions in these patients seemed to distinguish them from the group of sporadic melorheostosis patients where no germline LEMD3 mutation was identified [5].
• Somatic mosaicism for a LEMD3 mutation in the latter group was also not observed, and therefore we must conclude that the genetic defect in the majority of sporadic and isolated melorheostosis remains unknown [5].
• The symptoms were primarily the result of the melorheostosis lesions which were distributed within the C6 sclerotome [6].

Anatomical context of Melorheostosis

• A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis [1].
• A case is presented in which a severe carpal tunnel syndrome developed in a middle-aged woman with melorheostosis of the right upper limb since childhood [7].

Gene context of Melorheostosis

• A case of congenital carpal tunnel syndrome associated with melorheostosis is described [8].

References