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01.12.2015 | Case report | Ausgabe 1/2015 Open Access

BMC Musculoskeletal Disorders 1/2015

Incidentally diagnosed melorheostosis of upper limb: case report

Zeitschrift:
BMC Musculoskeletal Disorders > Ausgabe 1/2015
Autoren:
Vaclav Vyskocil, Karel Koudela Jr, Tomas Pavelka, Kristyna Stajdlova, David Suchy
Wichtige Hinweise

Competing interest

The authors declare that they have no competing interests.

Authors’ contributions

VV completed all examinations, decided about final diagnosis and and drafted the manuscript. KK performed first clinical examinations. PT and SK provided consultation regarding interpretation of imaging methods. All authors read and approved the final manuscript.

Authors’ information

VV is the head of Center of Metabolic Bone Diseases. His long term scientific interest is focused on rare bone metabolic diseases and related genetic disorders. PT is an international expert in orthopaedic traumatology of pelvis and acetabulum.

Abstract

Background

Melorheostosis is quite a rare bone disease with still unclear ethiology. Although multifocal affection is highly debilitating with unfavorable prognosis, there is no clear consensus about therapeutical approach. There is still insufficient evidence in the literature for almost a century after the first description.
Affected bone has a typical appearance of melting wax. Diagnosis is usually incidental with pain as a leading symptom. Diagnosis itself is relatively easy, routine X-ray examination is sufficient. Even though it could be easily overlooked and mistaken with other diseases. Melorheostosis is incurable, the therapy is mostly focused on maintaining patient quality of life.
Presented case is unique in terms of extent of the affection (index finger, metacarp shaft, carpal bones, forearm, humerus and whole scapula) in combination with osteopoikilotic islands in other 3 regions (vertebrae, manubrium sterni and left collar bone). Currently there is only one such a case published in the literature (Campbell), but without osteopoikilotic islands.

Case presentation

Melorheostosis was diagnosed in 26-year old female after injury as an incidental finding. This was quite surprising as the patient already suffered by limited movement in the upper limb and pain before the injury. Detailed examination were performed to confirm the diagnosis, no family history was found. Pharmacotherapy with bisphosphonates, non-steroidal antirheumatics and vasodilatans/rheologic drugs seemed to be effective to maintain the relatively good quality of patient life and good performance in daily routine. Questionable is further development of patient performance status and sustainability of conservative treatment in the long term follow up.

Conclusion

Conservative treatment with bisphopshonates and COX-2 inhibitors in combination with naftidrofuryl can delay surgery solution.
Literatur
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