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Journal of Orthopaedic Case Reports 2017Melorheostosis is a rare benign sclerosing dysplasia affecting bone, which causes significant morbidity in the form of pain and restriction of joint movement. Treatment...
INTRODUCTION
Melorheostosis is a rare benign sclerosing dysplasia affecting bone, which causes significant morbidity in the form of pain and restriction of joint movement. Treatment options are varied, and recurrence is common after surgical treatment. Choosing the most appropriate treatment option in the management of a recurrent case is challenging, with very little supporting evidence in literature owing to the rarity of the disease. We hereby present a case of recurrent melorheostosis involving the knee; discuss treatment options and the rationale of our treatment.
CASE REPORT
We present the case of a 42-year-old female who was operated at our institution previously 7 years ago for melorheostosis of her left knee and had undergone excision of intrarticular hyperostotic masses. However, pain and limitation of motion recurred in the operated knee 4 years later, and radiographs and computed tomography revealed a mineralized mass situated behind the patella in the patellofemoral joint. She was treated with repeat open excision of the mass and put on a regimen of physiotherapy and bisphosphonates.
CONCLUSION
Open excision of symptomatic hyperostotic or mineralized soft tissue masses is perhaps the favored treatment option in such cases, the other options being arthroscopic excision and total knee arthroplasty. Limited knee motion and size of the mass often make arthroscopy an unfeasible option. Total knee arthroplasty should be reserved for cases with significant flexion contractures of the knee, or where multiple excisions have failed.
PubMed: 29242791
DOI: 10.13107/jocr.2250-0685.884 -
A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder.Case Reports in Orthopedics 2017Melorheostosis is a rare, nonhereditary, benign, mesenchymal condition of unknown aetiology affecting the bones and surrounding tissues. A male patient complaining of...
Melorheostosis is a rare, nonhereditary, benign, mesenchymal condition of unknown aetiology affecting the bones and surrounding tissues. A male patient complaining of left shoulder pain, swelling, and mildly limited range of motion has an exclusive combination of the classic dripping wax lesion in the scapula and the myositis ossificans-like lesion in the deltoid muscle; this combination is the first to be reported in the shoulder. Both lesions showed typical findings of melorheostosis in radiographs, CT, MRI, and bone scan. This case has a stationary course over the follow-up period, and no specific treatment is needed in due course.
PubMed: 29234550
DOI: 10.1155/2017/9307259 -
Bone Aug 2017Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal...
Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant. Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3. Rarely, radiographic findings of MEL occur in OPK. However, germline mutation of LEMD3 does not explain sporadic MEL. To explore if mosaicism underlies MEL, we studied a boy with polyostotic MEL and characteristic overlying scleroderma-like skin, a few bony lesions consistent with OPK, and a large epidermal nevus known to usually harbor a HRAS, FGFR3, or PIK3CA gene mutation. Exome sequencing was performed to ~100× average read depth for his two dermatoses, two areas of normal skin, and peripheral blood leukocytes. As expected for non-malignant tissues, the patient's mutation burden in his normal skin and leukocytes was low. He, his mother, and his maternal grandfather carried a heterozygous, germline, in-frame, 24-base-pair deletion in LEMD3. Radiographs of the patient and his mother revealed bony foci consistent with OPK, but she showed no MEL. For the patient, somatic variant analysis, using four algorithms to compare all 20 possible pairwise combinations of his five DNA samples, identified only one high-confidence mutation, heterozygous KRAS Q61H (NM_033360.3:c.183A>C, NP_203524.1:p.Gln61His), in both his dermatoses but absent in his normal skin and blood. Thus, sparing our patient biopsy of his MEL bone, we identified a heterozygous somatic KRAS mutation in his scleroderma-like dermatosis considered a surrogate for MEL. This implicates postzygotic mosaicism of mutated KRAS, perhaps facilitated by germline LEMD3 haploinsufficiency, causing his MEL.
Topics: Adolescent; Exome; Genetic Predisposition to Disease; Humans; Male; Melorheostosis; Mosaicism; Mutation; Nevus; Osteopoikilosis; Osteosclerosis; Proto-Oncogene Proteins p21(ras)
PubMed: 28434888
DOI: 10.1016/j.bone.2017.04.010 -
Clinical Nuclear Medicine Jul 2017Melorheostosis is a rare, nonhereditary, benign, sclerotic bone dysplasia with no sex predilection, typically occurring in late childhood or early adulthood, which can...
Melorheostosis is a rare, nonhereditary, benign, sclerotic bone dysplasia with no sex predilection, typically occurring in late childhood or early adulthood, which can lead to substantial functional morbidity, depending on the sites of involvement. We report on a patient with extensive melorheostosis in the axial and appendicular skeleton, as well as in the soft tissues, who was evaluated with whole-body F-NaF PET/CT scan. All melorheostotic lesions of the skeleton and of the ossified soft-tissue masses demonstrated intensely increased F-NaF activity, suggesting the application of this modality in assessing and monitoring the disease activity.
Topics: Aged; Bone and Bones; Female; Fluorine Radioisotopes; Humans; Melorheostosis; Positron Emission Tomography Computed Tomography; Sodium Fluoride; Soft Tissue Neoplasms; Whole Body Imaging
PubMed: 28319505
DOI: 10.1097/RLU.0000000000001647 -
Journal of Orthopaedic Case Reports 2016Melorheostosis is a benign bone dysplasia affecting predominantly the appendicular skeleton and adjoining soft tissues. The diagnosis can be established on plain...
INTRODUCTION
Melorheostosis is a benign bone dysplasia affecting predominantly the appendicular skeleton and adjoining soft tissues. The diagnosis can be established on plain radiographs alone and advanced imaging modalities can be avoided. We hereby report a rare case of melorheostosis affecting the foot with a review of the role of various imaging modalities in diagnosis of this rare bone dysplasia.
CASE REPORT
We present the case of a 29 years old man who was diagnosed with melorheostosis affecting his left foot. The patient presented to the outpatient department of our tertiary care referral hospital with complains of pain in the left ankle and foot with imaging and evaluation done at a primary center. The radiograph revealed an irregular, longitudinal extraosseous hyperostosis along the body of the calcaneum and the metacarpals which was consistent with the classical radiological description of melorheostosis. The CT, MRI and bone scan findings corroborated our primary diagnosis.
CONCLUSION
The purpose of this case report is to review the features of this rare disorder affecting the foot, on multiple imaging modalities and emphasizing the role of conventional radiology in its diagnosis.
PubMed: 27299136
DOI: 10.13107/jocr.2250-0685.385 -
Clinical Cases in Mineral and Bone... 2016Melorheostosis is a benign, noninheritable bone dysplasia characterized by its classic radiographic features of dense, flowing hyperostosis. It frequently affects one...
Melorheostosis is a benign, noninheritable bone dysplasia characterized by its classic radiographic features of dense, flowing hyperostosis. It frequently affects one limb, usually the lower extremity and rarely the axial skeleton. A 26-year-old lady with obesity, polycystic ovarian syndrome and scalp dandruff presented with a long standing history of upper extremity pain and inability to adduct the arm completely. A Tc-99m MDP whole body and SPECT/CT scan performed for suspected fibrous dysplasia showed increased radiotracer uptake in densely sclerotic humeral and radial melorheostosis. This case highlighted the role of SPECT/CT imaging in this rare condition.
PubMed: 27252746
DOI: 10.11138/ccmbm/2016.13.1.048 -
The British Journal of Radiology Jun 2016There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis,... (Review)
Review
There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder.
Topics: Bone Diseases, Developmental; Diagnosis, Differential; Evidence-Based Medicine; Genetic Predisposition to Disease; Humans; Osteosclerosis
PubMed: 26898950
DOI: 10.1259/bjr.20150349 -
Annals of Saudi Medicine 2014Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as...
Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental limb contractures, osteosarcoma, desmoid tumor, and mesenteric fibromatosis. Synovial osteochondromatosis is a benign neoplasia of the hyaline cartilage presenting as nodules in the subsynovial tissue of a joint or tendon sheath. The intra-articular extension of melorheostosis mimicking synovial osteochondromatosis has not been reported before. In this article, the authors describe an unusual case mimicking synovial chondromatosis arising as a result of melorheostosis and their characteristic imaging findings.
Topics: Chondromatosis, Synovial; Diagnosis, Differential; Female; Humans; Knee Joint; Magnetic Resonance Imaging; Melorheostosis; Middle Aged
PubMed: 25971832
DOI: 10.5144/0256-4947.2014.547 -
Radiologia Brasileira 2015
PubMed: 25798011
DOI: 10.1590/0100-3984.2013.0019 -
BMC Musculoskeletal Disorders Jan 2015Melorheostosis is quite a rare bone disease with still unclear ethiology. Although multifocal affection is highly debilitating with unfavorable prognosis, there is no...
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.
Topics: Absorptiometry, Photon; Adult; Cervical Vertebrae; Cyclooxygenase 2 Inhibitors; Diphosphonates; Drug Therapy, Combination; Female; Forearm; Hand; Humans; Melorheostosis; Nafronyl; Tomography, X-Ray Computed; Upper Extremity; Whole Body Imaging
PubMed: 25637225
DOI: 10.1186/s12891-015-0455-z