Natural History of Melorheostosis
Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia. This disease affects one side of the body and is rarely bilateral. The disease is discovered upon episodes of pain, stiffness, joint contractures and sometimes deformities that occurs with time. In addition, rare signs such as edema, hyperpigmented skin patches, vascular tumors, and malformations have been reported. The picture of the disease in terms of locations, occurrence of pain and associated bone fragility is unknown.
Objective
The aim of the study is to provide a comprehensive picture of the clinical signs to help establish guidelines and assess the impact of pain.
For publications from this and other study groups, see our publication page.
Members of this Study Group
| Name(s) | Expertise / Role | Organisation |
|---|---|---|
| Lead: Martine Cohen-Solal | rheumatologist, co-chair ECTS RBDAG | Inserm U1132 Bioscar and université Paris-Cité Center Viggo Petersen Hôpital Lariboisière, France |
| Luca Sangiorgi | endocrinologist, ERN BOND coordinator | Rizzoli Orthopaedic Institute, Italy |
| Bo Abrahamsen | endocrinologist, ECTS board member | University of Southern Denmark and Holbæk Hospital, Denmark |
| Natasha Appelman-Dijkstra | endocrinologist | Leiden University Medical Center, the Netherlands |
| Mariya Cherenko | endocrinologist, EuRREB data manager | Leiden University Medical Center, the Netherlands |
| Ana Priego Zurita | pediatric endocrinologist, EuRREB quality manager | Leiden University Medical Center, the Netherlands |
| Gavin Clunie | rheumatologist | Nuffield Health Ipswich Hospital, United Kingdom |
| Corinna Grasemann | endocrinologist | Children’s Hospital Bochum, Germany |
| Willem Lems | rheumatologist, ECTS board member | Amsterdam UMC, the Netherlands |
| Thomas Funck-Brentano | rheumatologist | Assistance Publique – Hôpitaux de Paris, France |
| Heide Siggelkow | endocrinologist, ECTS board member | MVZ ENDOKRINOLOGIKUM, Germany |
| Carola Zillikens | endocrinologist | Erasmus Medical Center, the Netherlands |
For more information regarding the study or if you are interested to contribute to this study, please contact registries@lumc.nl.