KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib.

Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib.

Incidentally diagnosed melorheostosis of upper limb: case report.

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.

Case report: severe melorheostosis involving the ipsilateral extremities.

Melorheostosis is a rare, noninheritable bone dysplasia characterized by its classic radiographic feature of flowing hyperostosis resembling dripping candle wax, generally on one side of the long bone. The condition originally was described by Leri and Joanny in 1922. Its etiology remains speculative, and treatment in most instances has been symptomatic. Melorheostosis usually affects one limb, more often the lower extremity, and rarely the axial skeleton. We report a rare case of severe melorheostosis in the ipsilateral upper and lower extremities with normal contralateral extremities. The plain radiographs revealed almost all the bones in the affected extremities, from clavicle and scapula to distal phalanges of the fingers and from femur to distal phalanges of the toes, presented extensive, dense hyperostosis and heterotopic ossification in the periarticular soft tissue. Physical examination showed considerable swelling and deformities of the left limbs, stiffness and distortion of the joints, and anesthesia in the left ulnar regions of the forearm and hand. The examination of the right side was normal. Computed tomography scans showed multiple areas of classic candle wax-like hyperostosis and narrowing or disappearance of the medullary cavity. Histologic analysis confirmed the clinical and imaging diagnosis and revealed extremely dense sclerotic bone of cortical pattern.

Atypical form of melorheostosis improved by pamidronate.

BACKGROUND: Melorheostosis is a rare chronic bone disease of unknown etiology that often affects a single limb. AIM: Report a new case of melorheostosis of the ribs improved by pamidronate infusions CASE: A 36-year-old man without any medical history was admitted for a history of one month painful tumefaction on the 7th left rib. The diagnosis of melorheostosis of the rib and the tibia was made. Patient was treated by pamidronate infusions with useful and satisfactory outcome.

Melorheostosis of The Leg: A Case Report.

Melorheostosis is a benign hyperostotic disease of the peripheral skeleton, rarely involving the axial skeleton. This disease is associated with ossified and non-ossified soft tissue masses surrounding the joints. We report the case of a 28-year-old male who presented to an orthopedic clinic with a chronic history of right leg pain. Radiological evaluation using X-ray, computed tomography, and magnetic resonance imaging showed features consistent with that of melorheostosis. Recognition of this entity by clinicians can avoid unnecessary investigations and biopsy.

Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report.

BACKGROUND: A 20-year-old Danish woman with melorheostosis in her right femoral shaft and disabling pain in the affected area, whose symptoms did not in the long term respond to zoledronic acid, experienced continuous remission of pain after treatment with denosumab. To the best of our knowledge, this is the first case report on denosumab treatment for melorheostosis. CASE PRESENTATION: Radiologic findings and bone biopsy showed irregular cortical hyperostosis in the right femoral shaft with increased tracer uptake on Tc99-bone scan. The diagnosis of melorheostosis was made based on the radiological findings. There was a good initial response to zoledronic acid administration, but after relapse of pain, the second and third administrations had a poor effect. As a second line of treatment denosumab was administered at 8-week intervals, the frequency was based on our patient's symptoms and on biochemical markers of bone turnover. CONCLUSION: This is the first report indicating that denosumab has a place in the treatment of melorheostosis when the effect of bisphosphonate treatment is insufficient.

Successful symptomatic treatment of melorheostosis with nifedipine.

Melorheostosis is an unusual sclerotic dysplasia of bone. We describe a patient with melorheostosis who showed improvement in pain and vasomotor function after treatment with nifedipine. 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.

Melorheostosis: a rare entity: a case report.

Melorheostosis is a rare entity belonging to the group of sclerotic bone dysplasias. Described for the first time in 1922 by Leri, it remains imperfectly known as clinical presentations are highly variable, and the etiological diagnosis is not fully elucidated. We report a case of polyostoticmelorheostosis for which radiological investigations were complete, in order to study this disease.

Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy.

Melorheostosis is a very rare sclerosing bone disorder that involves frequently one limb. It may be asymptomatic, but pain and limb deformity may occur and can be very debilitating. Different reports have indicated efficacy of bisphosphonates (pamidronate and etidronate) on symptoms. We report an adult patient with a very painful melorheostosis, who  improved after treatment with zoledronate, either on symptoms or on bone scans.

Melorheostosis: a case report and literature review.

Melorheostosis is a rare form of cortical hyperostosis that resembles wax dripping down the side of a candle. This disease usually affects the long and short bones of an extremity. Literature review and a case report will be discussed with respect to incidence, clinical presentation, radiographic appearance, and treatment.

Atypical form of active melorheostosis and its treatment with bisphosphonate.

We present the case of a 38-year-old man in whom extensive bilateral melorheostosis was associated with elevated serum alkaline phosphatase, swelling of the right foot and progressive deformity of the left hand, left leg and right foot. Radiography, computed tomography and bone scintigraphy were performed. Following treatment with bisphosphonate (30 mg/day of pamidronate for 6 days) infusion, the pain and swelling of his right foot showed improvement and his elevated serum alkaline phosphatase decreased.

[Melorheostosis in adults. Apropos of 2 cases, 1 of them treated with diphosphonate (EHDP)]. / La mélorhéostose chez l'adulte. A propos de deux cas dont l'un traité par un diphosphonate (EHDP)

The authors report two cases of melorheostosis discovered in adults because of fairly intense pain and deformation of the affected limb. The radiological appearances were typical. Isotope bone scintigraphy showed strong hyperfixation in the affected bones. A histomorphometric study of a double iliac bone biopsy showed on the one hand, cortical hypertrophy, normal osteonic architecture, and normal lamellar texture in the pathological regions, and, on the other hand, the dynamic character of the healthy bone close the lesions. In one of the patients an original attempt at treatment with diphosphonate (1 200 mg/day of EHDP for 5 months) resulted in a clear improvement in the bone pain. The disease is considered to be a mesodermic dystrophy. It seems to be due to strong hyperactivity of the subperiosteal bone accretion, which, normally, persists only at a weak level in adults.

Melorheostosis: two case presentations and review of the literature.

Two cases are presented. Case #1, a 27-year-old Caucasian male presented with chronic right leg pain. Case 2 was a 23-year-old Caucasian female with right fifth finger pain. The clinical examination was benign except for mild tenderness of many years duration. No deformities were present in the male patient, the female patient did exhibit mild clinodactyly. The pain was described as constant, low grade, and dull. Plain roentgenograms of both patients demonstrated a hyperostotic process typical of melorheostosis and the bone scans demonstrated increased bone activity. A CAT scan demonstrated both endosteal and periosteal hyperostosis in our male patient. The biopsies of both patients were consistent with the clinical diagnosis of melorheostosis. A discussion and review of the literature covering this process is presented.