Melorheostosis together with osteopoikilosis, ostepathia striata and BuschkeOllendorfovs syndrom belongs to mesodermal sclerotic dysplasia. Melorheostosis is a very rare disease with an incidence of 1:1 000 000, which was firstly described by French neurologist Léri in 1922. Hyperdense bands prominent upon the outer cortex niveau are visible on X-rays of long bones diaphysis reminding flowing wax of a candle. This disease is connected with contractures of soft tissues, limited motion, intermittent edemas of joints, limb deformities and especially algesia. Etiology is still unknown. Dysfunction of gene LEMD3 with simultaneous inhibition of TGFβ and BMP is considered. On the contrary, a lot of cases were reported without detection of mutation or gene function impairment.
It is possible to detect three forms of melorheostosis: monostotic, monomelic and polyostotic. Polyostotic form is sometimes described as a generalized form. It represents combined monomelic and osteopoikilotic affection of other parts of skeleton. Standard X-ray is very important for differential diagnosis. For the further examination three-phase scintigraphy, CT and MRI are needed. CT and MRI are necessary for surgery extend planning, which is considered especially in case of central neurovasal oppression or release of extreme joint restriction. Peripheral vascular disturbances may be responsible for the pain associated with this disorder and vascular abnormalities could possibly be related to the pathogenesis of this disease.
Authors present a case of 26-year-old female. Despite the severe restriction of shoulder and elbow joint movement, palmar flexion of the wrist and concomitant affection of vertebral body of cervical spine and collarbone the diagnosis was confirmed as late as her age of 25 as a consequence of injury. Differential diagnosis, conservative as well as surgery treatment is further discussed.
After the diagnose confirmation the patient was treated with 70 mg once weekly alendronate, nifedipine and non-steroidal antirheumatics. There was a quick improvement in pain and vasomotor functions. Further medication was needed to solve the sleep disturbances. Due to the successful management of subjective symptoms there was no need for the patient to undergo surgery for nerve oppression.
17 - 20 May 2014
European Calcified Tissue Society