Incidentally diagnosed melorheostosis of upper limb: case report

Abstract

BackgroundMelorheostosis 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 presentationMelorheostosis 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.ConclusionConservative treatment with bisphopshonates and COX-2 inhibitors in combination with naftidrofuryl can delay surgery solution.

A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder

“…There are conflicting reports about the prevalence of monomelic versus polyostotic distributions of melorheostosis [ 5 , 8 ]. However, it is clear that lower limb involvement is more common than upper limb, rib, and spinal involvement [ 5 , 8 ] and that the hands [ 7 ] are more frequently affected than the shoulder in upper limb cases [ 3 , 5 , 8 – 13 ].…”

“…Our patient presented with shoulder pain, which is the most common presenting complaint documented in the literature [ 5 , 8 ]. However, many patients are diagnosed based on incidental radiological findings [ 1 , 13 ]. Other reported signs and symptoms include stiffness and reduced range of movement of the affected joint [ 11 , 12 , 19 ], soft tissue contractures or masses [ 3 , 10 , 20 ], various skin manifestations [ 3 ], and bone shortening and deformity [ 7 – 9 , 12 , 21 ].…”

“…The diagnosis of melorheostosis is usually established through radiological findings: X-rays, computed tomography, magnetic resonance imaging, and bone scans; specific features have been described in every modality; and these findings gave a solid foundation for diagnosis in many studies [ 1 , 8 , 11 , 13 , 16 , 17 , 19 , 21 – 25 ]. A biopsy was carried out in cases of sinister or suspicious lesions and in many incidences as part of the surgical intervention [ 5 , 7 – 10 , 12 , 18 , 20 , 26 , 27 ], but this was not mandatory for every case.…”

“…To our knowledge, our case has a unique combination of a classic lesion in the scapular blade and a myositis ossificans-like lesion in the deltoid muscle. The typical hyperostotic lesion is present in most cases involving the shoulder [ 1 , 9 – 13 ]. However, no published cases are reported on the combination seen in our patient [ 5 , 8 ].…”

HISTOPATOLOGIA EM FÍGADO DE Astyanax Lacustris (TELEOSTEI, CHARACIDAE) COMO BIOMARCADOR DE POLUIÇÃO AMBIENTAL AQUÁTICA NO SUBMÉDIO SÃO FRANCISCO NORDESTE DO BRASIL

“…O diagnóstico é feito através da clínica e da alteração radiográfica. Clinicamente pode ser relatada pelos sinais clínicos de dores e edemas articulares, deformidade dos membros, parestesia e redução da amplitude do movimento [VYSKOCIL, 2015]. Radiologicamente também há um sinal clássico, a "cera de vela derretida", que é tecnicamente descrita como hiperostose da parte cortical óssea ao longo do osso acometido [LONG, 2009].…”