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Medicina 2023
Topics: Humans; Melorheostosis; Diagnosis, Differential
PubMed: 37870352
DOI: No ID Found -
Intractable & Rare Diseases Research May 2013Melorheostosis is an uncommon, non-genetic, non-developmental, sclerosing dysplasia of bone and adjacent soft tissues, with deformity of the extremity, pain, limb... (Review)
Review
Melorheostosis is an uncommon, non-genetic, non-developmental, sclerosing dysplasia of bone and adjacent soft tissues, with deformity of the extremity, pain, limb stiffness and limitation of motion. The characteristic radiographic appearance consists of irregular hyperostotic changes of the cortex resembling melted wax dripping down the side of a candle. In this review, clinical characteristics of Melorheostosis are discussed and reports in the Chinese literature are summarized.
PubMed: 25343102
DOI: 10.5582/irdr.2013.v2.2.51 -
Journal of Clinical Imaging Science 2022Melorheostosis is a rare bone dysplasia of unknown etiology with an incidence of 0.9 cases per million. It typically affects the upper or lower limbs and can cause...
Melorheostosis is a rare bone dysplasia of unknown etiology with an incidence of 0.9 cases per million. It typically affects the upper or lower limbs and can cause severe deformity and functional impairment. Diagnosis is radiological and is often described as a "flowing candle wax" appearance on the radiograph. Treatment is individualized depending on the site and severity of symptoms. We report a rare case of spinal melorheostosis. We demonstrate the imaging features of melorheostosis on CT and MRI. We discuss the classification, genetics, and management of this condition.
PubMed: 35251764
DOI: 10.25259/JCIS_202_2021 -
PM & R : the Journal of Injury,... May 2023Melorheostosis is a rare bone disorder with limited literature that describes the effect of this disease on functional and motor abilities. As part of a natural history... (Observational Study)
Observational Study
INTRODUCTION
Melorheostosis is a rare bone disorder with limited literature that describes the effect of this disease on functional and motor abilities. As part of a natural history study, four outcome measures were administered to better understand the burden this disease has on a person's ability to engage in basic and instrumental activities of daily living.
OBJECTIVE
To investigate the relationship between functional engagement, fatigue, and motor ability in patients with melorheostosis.
DESIGN
Cross-sectional data gathered from a longitudinal natural history observational study.
SETTING
Rehabilitation department within a single institution.
PARTICIPANTS
Forty-seven adult volunteers with melorheostosis were enrolled. Two participants were removed for failure to meet diagnosis eligibility. Thirty patients had lower extremity (LE) osteosclerotic bone lesions, 14 had upper extremity (UE) lesions, and one had lesions in both UEs and LEs.
INTERVENTIONS
Not applicable.
MAIN OUTCOME MEASURES
Activity Card Sort, Second Edition (ACS); Multi-Dimensional Fatigue Inventory; Lower Extremity Functional Scale; Upper Extremity Functional Index.
RESULTS
On the ACS, high-demand leisure (HDL) activities were the least retained (p < .001). Of the activities rated most important, HDL activities were the most likely to have been given up (27%). General fatigue (μ = 11.8) and physical fatigue (μ = 11.0) were the two most limiting fatigue constructs. There were moderate negative correlations with HDL activities compared to physical fatigue (r = -0.524, p < .001) and reduced activity fatigue (r = -0.58, p = .001). LE lesions had a large effect on completing LE tasks (d = 0.95) and UE lesions had a medium effect on completing tasks involving the UE (d = 0.69).
CONCLUSIONS
Patients with melorheostosis experience fatigue and low engagement in HDL activities. The results of this study underscore the importance of acknowledging activity domain, fatigue constructs, and lesion location to support and provide targeted evidence-based rehabilitative therapy.
CLINICAL TRIAL REGISTRATION NUMBER
NCT02504879.
Topics: Adult; Humans; Activities of Daily Living; Cross-Sectional Studies; Fatigue; Lower Extremity; Melorheostosis; Upper Extremity
PubMed: 35403375
DOI: 10.1002/pmrj.12817 -
Radiologia Brasileira 2015
PubMed: 25798011
DOI: 10.1590/0100-3984.2013.0019 -
Case Reports in Oncology 2023Melorheostosis is a rare benign bone pathology involving bone dysplasia and hyperostosis. The disease can be recognized with a characteristic radiographic feature of...
Melorheostosis is a rare benign bone pathology involving bone dysplasia and hyperostosis. The disease can be recognized with a characteristic radiographic feature of radiopaque lesions dripping along a long bone's diaphysis. The aberrant bone formation and development manifests mainly as pain, edema, and paresthesia of the affected limb. Severe cases may report limb deformity as well as limited range of motion. Until now, there have been approximately 300 cases reported about melorheostosis worldwide and its diverse clinical picture and age distribution. In Vietnam, there is only one known case of melorheostosis discovered incidentally via radiography. The scarcity of cases presents a challenge within the medical community in recognizing and diagnosing the condition, and a delayed diagnosis can lead to severe contracture and compromised limb motility. In this article, we reported an 82-year-old case of polyostotic melorheostosis with late onset and predominant edema, affecting the sternum, the ribs, and multiple bones of the right extremities and presented our clinical approach for a geriatric patient with chronic limb edema. Our case is distinctive in terms of anatomical location as well as the predominant 20-year non-pitting edema. A prompt diagnosis was made upon the classic dripping candle wax radiographic features emphasizing the role of plain X-ray in establishing the diagnosis without extraneous utilization of other modalities and invasive procedures. Exclusion of other causes of chronic edema such as lymphadenopathy, malignancy as well as parasitic infection is of clinical importance.
PubMed: 38130895
DOI: 10.1159/000534241 -
Medicina (Kaunas, Lithuania) Apr 2023: Melorheostosis, also referred to in the literature as Leri's disease, is an unusual mesenchymal dysplasia with the clinical appearance of benign sclerosing bone... (Review)
Review
: Melorheostosis, also referred to in the literature as Leri's disease, is an unusual mesenchymal dysplasia with the clinical appearance of benign sclerosing bone dysplasia; it frequently occurs in late adolescence. Any bone in the skeletal system can be affected by this disease, though the long bones of the lower extremities are the most common, at any age. Melorheostosis has a chronic evolution, and symptoms are usually absent in the early stages. The etiopathogenesis is still unknown, however, numerous theories have been proposed that could explain the appearance of this lesion formation. An association with other benign or malignant bone lesions is also possible, and associations with osteosarcoma, malignant fibrous histiocytoma, or Buschke-Ollendorff syndrome have also been reported. There have also been reported cases of the malignant transformation of a pre-existing melorheostosis lesion into malignant fibrous histiocytoma or osteosarcoma. The diagnosis of melorheostosis can be made only based on radiological images, but, due to its polymorphism, additional imaging investigations are often necessary and sometimes only a biopsy can establish a definite diagnosis. Because there are currently no guidelines for treatment based on scientific evidence, due to the low number of cases diagnosed worldwide, our objective was to highlight the early recognition and specific surgical treatments for better prognosis and outcomes. : We conducted a review of the literature consisting of original papers, case reports, and case series and presented the clinical and paraclinical characteristics of melorheostosis. We aimed to synthesize the treatment methods available in the literature as well as determine possible future directions related to the treatment of melorheostosis. Furthermore, we presented the results of a case of femoral melorheostosis admitted to the orthopedics department of the University Emergency Hospital of Bucharest in a 46-year-old female patient with severe pain in the left thigh and limitation of joint mobility. Following the clinical examination, the patient complained of pain in the middle third of the left thigh in the antero-medial compartment; the pain appeared spontaneously and was aggravated during physical activity. The pain started about two years prior, but the patient experienced complete pain relief after the administration of non-steroidal anti-inflammatory drugs. In the last six months, the patient presented an increase in pain intensity without significant improvement following the administration of non-steroidal anti-inflammatory drugs. The patient's symptoms were mainly determined by the increase in the volume of the tumor and the mass effect on the adjacent tissues, especially on the vessels and the femoral nerve. The CT examination and bone scintigraphy showed a unique lesion in the middle third of the left femur and no oncological changes in the thoracic, abdominal, and pelvic regions; however, at the level of the femoral shaft, there was a localized cortical and pericortical bone lesion formation that surrounded approximately 180 degrees of the femoral shaft (anterior, medial, and lateral). It had a predominantly sclerotic structure but was associated with lytic areas with thickening of the bone cortex and areas of periosteal reaction. The next therapeutic gesture was to perform an incisional biopsy using a lateral approach at the level of the thigh. The histopathological result supported the diagnosis of melorheostosis. Additionally, immunohistochemical tests completed the data obtained after the microscopic examination through the classic histopathological technique The patient was discharged and included in a full medical recovery program for eight weeks in a specialized medical center, during which she also received analgesic treatment in maximum doses, but without improvement regarding her symptoms. Taking into account the chronic evolution of the pain, the complete lack of response to conservative treatment after eight weeks, and the lack of treatment guidelines in the case of melorheostosis, a surgical approach needed to be considered. The surgical option in this case, considering the circumferential location of the lesion at the level of the femoral diaphysis, was a radical resection. The surgical approach consisted of segmental resection to healthy bone tissue and reconstruction of the remaining defect with a modular tumoral prosthesis. At the 45-day postoperative control, the patient no longer complained of pain in the operated-on limb and was mobile with full support without gait difficulties. The follow-up period was one year, and the patient presented complete pain relief and a very good functional outcome. In the case of asymptomatic patients, conservative treatment seems to be a good option with optimal results. However, for benign tumors, it remains unclear whether radical surgery is a viable option. : Melorheostosis remains an incompletely understood disease, given the limited number of cases worldwide, and thus, there is a lack of clinical guidelines regarding specialized treatment.
Topics: Humans; Female; Adolescent; Middle Aged; Melorheostosis; Histiocytoma, Malignant Fibrous; Pain; Osteosarcoma; Anti-Inflammatory Agents
PubMed: 37241101
DOI: 10.3390/medicina59050869 -
The Pan African Medical Journal 2014
Topics: Adult; Female; Humans; Knee Joint; Melorheostosis; Pain
PubMed: 25883741
DOI: 10.11604/pamj.2014.19.314.5328 -
The Pan African Medical Journal 2023
Topics: Humans; Melorheostosis
PubMed: 37187602
DOI: 10.11604/pamj.2023.44.69.38954 -
Acta Reumatologica Portuguesa 2020
Topics: Humans; Male; Melorheostosis; Middle Aged; Trigger Finger Disorder
PubMed: 32578577
DOI: No ID Found