Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series
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...
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Published in: | Calcified tissue international 2019-08, Vol.105 (2), p.215-221 |
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Main Authors: | , , , , , , , , , , , , , , , , |
Format: | Article |
Language: | eng |
Subjects: | |
Online Access: | Get full text |
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Summary: | 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. In rare cases,
LEMD3
mutations and recently mosaic
MAP2K1
gene mutations have been correlated to MEL suggesting that somatic mosaicism could be causative of the disease. In this study, we described the clinical, radiological and molecular findings of 19 individuals with MEL and 8 with OPK and compared the results to the medical literature. The molecular analyses of this case series corroborate the available data in the medical literature, indicating that
LEMD3
germline mutations are not a major cause of isolated MEL and reporting five further cases of OPK caused by
LEMD3
germline mutations. |
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ISSN: | 0171-967X 1432-0827 |