Incidentally diagnosed melorheostosis of upper limb: case report

26-year old female patient underwent surgery of a cleft palate at the age of 5 years, later she had no significant health issue. Melorheostosis was diagnosed incidentally by X-ray after shoulder injury in sport.

Clinical examination showed reduced joint abduction 60 degress in the shoulder, further movement was possible only in scapula, movement range in the elbow was limited to 20 degrees, in radiocarpal joint was volar flexion up to 40 degrees, dorsal flexion 0, pronation and supination was also 0. The patient reported pain in the whole upper limb at rest. Osteopoikilotic islands were identified in the body of third cervical vertebra and also in the right collar bone and sternum manubrium. CT of the upper limbs and upper chest was performed without contrast tracer. There was no family history of melorheostosis found.

Diffuse thickening and sclerotisation was identified on index finger, II. metacarp shaft on the left hand, the lesion was less aparent at the I. metacarp of the left hand and on some carpal bones (Figure 1). There was diffusely enlarged sclerotic radius, humerus and the scapula on the left side. The cavities on affected bones were completely filled with the sclerotic bone. Small sclerotic focus was in the ventral part of C3 vertebral body - size 7 mm (Figure 2), there was also a small island in the left manubrium sternum and in the sternal part of the left collarbone. The finding corresponded to melorheostosis Léri. Thickness of patient’s left scapula was up to 31 mm, the contralateral scapula was unaffected with thickness of 2–3 mm. The cortex of both collarbone and ribs had slightly higher bone density. The skull was without pathological finding.

Bone scintigraphy showed normal level of overall metabolic activity in the skeleton. Significant, locally inhomogeneous increase of activity was evident in most of the scapula, humerus, radius and in II. shaft on the left, the highest intensity of changes was in the scapula, which showed 7-times higher activity compared to the contra lateral parts. Activity increase in the I. shaft left was more modest and slight accumulation was present in the left medial clavicle (Figure 3). The rest of skeleton was without significant pathological changes.

DXA examination of the whole skeleton showed osteopenia in the lumbar spine: T score −1.2 SD, in both hips T-score was same and within the normal range. There was no abnormality found in the laboratory tests including bone markers except for increased level of osteocalcin and C-terminal telopeptide.

The published cases reported good experience with bisphosphonate in terms of disease progression [12]. The patient was treated with weekly alendronate and COX-2 inhibitor (celecoxib). In connection with the development of sleep disorders and increased skin sensitivity sensitivity on affected site naftidrofuryl in high doses (600 mg daily) was added, which led to symptoms relieve. The patient is currently without pain and is able to perform normal daily activities with non-progressive restriction for 5 years after the diagnosis. Pharmacological treatment in described combination could delay surgery solution and eventually could prevent an excessive dosage of analgetics. Questionable is further development of patient performance status and sustainability of conservative treatment in the long term follow up.

Written informed consent was obtained from the patient for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.