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Reumatismo Mar 2024Melorheostosis is a rare, non-hereditary, benign bone disease characterized by abnormal bone growth. Generally, melorheostosis develops during childhood or adolescence... (Review)
Review
OBJECTIVE
Melorheostosis is a rare, non-hereditary, benign bone disease characterized by abnormal bone growth. Generally, melorheostosis develops during childhood or adolescence and progresses gradually over time. This disease represents a true challenge to the physician because of its variability due to location, extension of the affected bone, and involvement of associated soft tissue. Pain management, physical therapy, and surgery may be recommended, depending on the individual case. This review aims to get an overview of the latest evidence relating to epidemiology, clinical and radiographic characteristics, diagnosis, and possible therapeutic strategies for melorheostosis and describe our experience through a clinical case.
METHODS
We designed a comprehensive literature search on melorheostosis in MEDLINE (via Pubmed) up to April 2023 and reviewed reports published in international journals.
RESULTS
The purpose is to highlight the importance of a multidisciplinary approach in the management of a rare disease such as melorheostosis. We discuss the role of different physicians, including genetists, rheumatologists, physiatrists, physical therapists, and orthopedic surgeons, in providing accurate diagnoses and effective treatments. We conducted a comprehensive review of the literature on the treatment of melorheostosis to support these findings. In addition, the article presents a case study of a patient suffering from melorheostosis, focusing on difficulties in reaching a correct diagnosis and attempts towards conservative and surgical interventions. The patient underwent hip arthroplasty, and the final result was an improvement in function and a reduction in pain.
CONCLUSIONS
Managing melorheostosis can be challenging, and there is no standardized treatment for this condition at the moment.
Topics: Adolescent; Humans; Melorheostosis; Pain; Pain Management; Treatment Outcome; Rare Diseases
PubMed: 38523583
DOI: 10.4081/reumatismo.2024.1621 -
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 -
Cureus Sep 2023Melorheostosis is a rare chronic disease commonly affecting long bones of the lower extremity with the typical imaging feature of hyperostosis "candle wax...
Melorheostosis is a rare chronic disease commonly affecting long bones of the lower extremity with the typical imaging feature of hyperostosis "candle wax pattern." Typically associated with pain, deformities, stiffness, and joint movement restriction (due to contracture and fibrosis), it may also be asymptomatic. Melorheostosis is considered a benign disease but can be extremely debilitating, especially in a pediatric context where progression can be faster than in adults. An even rarer occurrence seems to be its association with nerve impingement. In this paper, we present the case of an 8-year-old girl with a known condition of melorheostosis of the upper limbs who developed bilateral carpal syndrome. To our knowledge, very few cases of the sort have been described, and even less in a pediatric context.
PubMed: 37872907
DOI: 10.7759/cureus.45773 -
Medicina 2023
Topics: Humans; Melorheostosis; Diagnosis, Differential
PubMed: 37870352
DOI: No ID Found -
Journal of Bone and Mineral Research :... Dec 2023Patients with classical melorheostosis exhibit exuberant bone overgrowth in the appendicular skeleton, resulting in pain and deformity with no known treatment. Most...
Patients with classical melorheostosis exhibit exuberant bone overgrowth in the appendicular skeleton, resulting in pain and deformity with no known treatment. Most patients have somatic, mosaic mutations in MAP2K1 (encoding the MEK1 protein) in osteoblasts and overlying skin. As with most rare bone diseases, lack of affected tissue has limited the opportunity to understand how the mutation results in excess bone formation. The aim of this study was to create a cellular model to study melorheostosis. We obtained patient skin cells bearing the MAP2K1 mutation (affected cells), and along with isogenic control normal fibroblasts reprogrammed them using the Sendai virus method into induced pluripotent stem cells (iPSCs). Pluripotency was validated by marker staining and embryoid body formation. iPSCs were then differentiated to mesenchymal stem cells (iMSCs) and validated by flow cytometry. We confirmed retention of the MAP2K1 mutation in iMSCs with polymerase chain reaction (PCR) and confirmed elevated MEK1 activity by immunofluorescence staining. Mutation-bearing iMSCs showed significantly elevated vascular endothelial growth factor (VEGF) secretion, proliferation and collagen I and IV secretion. iMSCs were then differentiated into osteoblasts, which showed increased mineralization at 21 days and increased VEGF secretion at 14 and 21 days of differentiation. Administration of VEGF to unaffected iMSCs during osteogenic differentiation was sufficient to increase mineralization. Blockade of VEGF by bevacizumab reduced mineralization in iMSC-derived affected osteoblasts and in affected primary patient-derived osteoblasts. These data indicate that patient-derived induced pluripotent stem cells recreate the elevated MEK1 activity, increased mineralization, and increased proliferation seen in melorheostosis patients. The increased bone formation is driven, in part, by abundant VEGF secretion. Modifying the activity of VEGF (a known stimulator of osteoblastogenesis) represents a promising treatment pathway to explore. iPSCs may have wide applications to other rare bone diseases. © 2023 American Society for Bone and Mineral Research (ASBMR).
Topics: Humans; Bone and Bones; Cell Differentiation; MAP Kinase Kinase 1; Melorheostosis; Osteogenesis; Vascular Endothelial Growth Factor A
PubMed: 37737377
DOI: 10.1002/jbmr.4915 -
Journal of Orthopaedic Case Reports May 2023Melorheostosis was initially identified in 1922 by Leri and Joanny. It is often referred to as candle bone disease, melting wax syndrome, or Leri disease. This...
INTRODUCTION
Melorheostosis was initially identified in 1922 by Leri and Joanny. It is often referred to as candle bone disease, melting wax syndrome, or Leri disease. This mesenchymal condition is uncommon, benign, and non-heritable. There is still a lack of clarity regarding the underlying cause of the condition. The estimated incidence is 0.9% per million. No inherited traits have been identified, and both sexes are equally affected. Pain or swelling is the most typical symptoms, and the onset is insidious. People often call this condition "candle disease of the bone" because the radiological signs of it look like dripping candle wax.
CASE REPORT
A 56-year-old female presented with an 8-year history of the left knee pain, swelling, and movement restriction. On examination, a hard, bony lump measuring 12×5 cm was located on the outer aspect of the left knee. The skin over the lump's surface was neither erythematous nor warm. Plain radiographs revealed a wide, dense, undulating, or irregular cortical hyperostosis, resembling candle wax, spreading along the length of the fibula bone as well as an extra-osseous calcification mass across the lateral aspect of the left knee. The patient underwent excision with complete left knee motion.
CONCLUSION
Melorheostosis' actual etiology is yet unknown. There is no established treatment for this condition. Only symptomatic treatment helps patients feel better; in some circumstances, the excision of a bone mass yields more beneficial results.
PubMed: 37255632
DOI: 10.13107/jocr.2023.v13.i05.3638 -
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 -
Cureus Apr 2023Buschke-Ollendorff syndrome is a rare, often benign, autosomal dominant skin disorder. This syndrome commonly presents with non-tender connective tissue nevi and...
Buschke-Ollendorff syndrome is a rare, often benign, autosomal dominant skin disorder. This syndrome commonly presents with non-tender connective tissue nevi and sclerotic bony lesions. Characteristic skeletal findings such as melorheostosis and hyperostosis are usually present. Most cases are detected incidentally. Skin lesions appear first and become less noticeable with age. Bone lesions occur in the later decades of life. Another rarely associated symptom, melorheostosis, is manifested by the appearance of wax running through the cortex of the bone. Plain radiographs usually show cortical hyperostosis. This study aims to present a case report of Buschke-Ollendorff syndrome from an orthopedic aspect and emphasize the importance of the disease since it can be easily assessed as a bone tumor. Second, to the best of our knowledge, this is the first case presented with a unilateral genu valgum deformity with a long-term follow-up in the relevant literature.
PubMed: 37234136
DOI: 10.7759/cureus.38074 -
The Pan African Medical Journal 2023
Topics: Humans; Melorheostosis
PubMed: 37187602
DOI: 10.11604/pamj.2023.44.69.38954 -
The Indian Journal of Radiology &... Sep 2022Axial melorheostosis is rare with only few cases reported and even fewer with symptoms. While symptoms secondary to neural foramen or spinal canal stenosis caused by...
Spinal Melorheostosis Associated with Intradural Fibrous Band and Extensive Lipomatosis Causing Thoracic Cord Tethering and Myelomalacia: A Unique Case Highlighting Importance of MRI in Management.
Axial melorheostosis is rare with only few cases reported and even fewer with symptoms. While symptoms secondary to neural foramen or spinal canal stenosis caused by hyperostotic bone are common, only three symptomatic cases of spinal melorheostosis with associated intradural lipomatous lesions have been reported to date. In none of them the fibrous component of lipofibromatous lesion was identified preoperatively on magnetic resonance imaging. We report here a case of 18-year-old male who presented with thoracic myelopathy secondary to widespread spinal melorheostosis associated with extensive intradural lipomatosis and fibrous component in thoracic lipoma, causing tethering of thoracic spinal cord and myelomalacia. The patient was treated with T2 to T9 posterior instrumented stabilization followed by T3 to T8 laminectomy along with selective thoracic lipofibromatous tumor debulking. Detection of the fibromatous component in multilevel extensive intradural lipomatosis associated with melorheostosis is helpful in planning selection of the level of surgical excision and decompression.
PubMed: 36177288
DOI: 10.1055/s-0042-1748883