Maria Gnoli, Eric Lodewijk Staals, Laura Campanacci, Maria Francesca Bedeschi, Flavio Faletra, Salvatore Gallone, Agostino Gaudio, Teresa Mattina, Fiorella Gurrieri, Antonio Percesepe, Iria Neri, Annalucia Virdi, Morena Tremosini, Annamaria Milanesi, Evelise Brizola, Elena Pedrini, Luca Sangiorgi
Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understood. Occasionally, the same family can include individuals with MEL and Osteopoikilosis (OPK), a disease characterised by multiple round foci of increased bone density. LEMD3 gene mutations are related to OPK and Buschke-Ollendorff Syndrome, a genetic condition in which an association between MEL, OPK and skin lesions is observed...
May 25, 2019: Calcified Tissue International