Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

• DOI: 10.1007/s00223-019-00565-6
• Publication Date: 2019-05-25T08:02:27Z
• Authors: Maria Gnoli; Eric Lodewijk Staals; Laura Campanacci; Maria Francesca B...; 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
• Keywords: Pathogenesis; Hyperostosis; Osteochondrodysplasia

Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing candle wax. The disease sporadic and pathogenesis still poorly understood. Occasionally, same family can include individuals with MEL Osteopoikilosis (OPK), a multiple round foci increased bone density. LEMD3 gene mutations are related to OPK Buschke–Ollendorff Syndrome, genetic condition in which association between MEL, skin lesions observed. In rare cases, recently mosaic MAP2K1 have been correlated suggesting that somatic mosaicism could be causative disease. this study, we described clinical, radiological molecular findings 19 8 compared results medical literature. analyses case series corroborate available data literature, indicating germline not major cause isolated reporting five further cases caused mutations.