-
La Revue Du Praticien Apr 2024
Topics: Humans; Melorheostosis
PubMed: 38814035
DOI: No ID Found -
Clinical Nuclear Medicine Jul 2024A 16-year-old girl presented with left chest pain. Radiography and CT revealed localized abnormal calcification in the left sixth rib and sixth thoracic vertebra. Bone...
A 16-year-old girl presented with left chest pain. Radiography and CT revealed localized abnormal calcification in the left sixth rib and sixth thoracic vertebra. Bone scintigraphy confirmed abnormal uptake of 99m Tc in the same area. An open biopsy of the sixth rib was performed, leading to the diagnosis of melorheostosis. This case showed uniformly thickened calcification throughout the rib, unlike the typical "dripping candle wax" radiography finding associated with melorheostosis. This case implies the importance of open biopsy for diagnostic confirmation in cases with atypical imaging features.
Topics: Humans; Melorheostosis; Female; Ribs; Adolescent; Tomography, X-Ray Computed
PubMed: 38758532
DOI: 10.1097/RLU.0000000000005268 -
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 -
International Journal of Rheumatic... Jan 2024
Topics: Humans; Melorheostosis; Rare Diseases; Bone and Bones; Radiography
PubMed: 38287536
DOI: 10.1111/1756-185X.15051 -
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 -
Skeletal Radiology Jul 2024Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1% of all bone tumors. A geographical lytic, expansile, and septated radiological...
Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1% of all bone tumors. A geographical lytic, expansile, and septated radiological pattern, with fluid-fluid levels on MRI, is classically displayed. ABC can be a primary bone lesion (70% of patients) or can arise in an underlying condition and is subsequently named "ABC-like changes" (30%). ABC-like changes are more frequently encountered in skeletal segments affected by chondroblastoma, fibrous dysplasia, giant cell tumor, osteoblastoma, non-ossifying fibroma, and osteosarcoma. In this article, we describe the first case of ABC-like changes developed in association with an ultra-rare sclerosing bone disease: melorheostosis. Melorheostosis is characterized by recognizable patterns on radiological studies with a pathological increased bone density and a cortical thickening within the periosteal or endosteal space, usually with a "dripping candle wax" appearance. More rarely, other different radiological patterns can be observed, such as "osteopatia striata-like," "osteoma-like," "myositis ossificans-like," and mixed patterns. Pain and limb hypotrophy are the most common clinical manifestations. We report the case of a Caucasian male with a clinic-radiological diagnosis of melorheostosis (with epiphyseal osteopoikilosis) since the age of twelve. At the age of nineteen, he suffered from increased pain in the proximal right thigh, and the radiological control revealed an expansive septated lesion at the right proximal femoral bone. The diagnosis of ABC-like changes developed in melorheostosis was obtained after CT-guided bone biopsy and confirmed by open-incisional biopsy.
Topics: Humans; Melorheostosis; Male; Bone Cysts, Aneurysmal; Osteopoikilosis; Magnetic Resonance Imaging; Diagnosis, Differential; Epiphyses; Adult; Tomography, X-Ray Computed
PubMed: 38015230
DOI: 10.1007/s00256-023-04529-8 -
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 -
Arthritis & Rheumatology (Hoboken, N.J.) Mar 2024
Topics: Humans; Melorheostosis; Fingers; Erythema Nodosum
PubMed: 37818730
DOI: 10.1002/art.42728 -
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 -
JBJS Case Connector Jul 2023A 22-year-old female patient was referred to the orthopaedic department for further examination after a radiopaque area was observed in the T6 vertebra in her chest...
CASE
A 22-year-old female patient was referred to the orthopaedic department for further examination after a radiopaque area was observed in the T6 vertebra in her chest radiograph. Computed Tomography (CT) showed a sclerotic mass with smooth borders, involving the entire body of the T6 vertebra, left posterior elements, posterior of the rib past the left zygapophyseal joint, and a "flowing candle wax" image toward the T7 vertebra. Spinal melorheostosis was considered radiologically in the patient, but malignancy could not be completely excluded. Thereupon, open biopsy was performed under general anesthesia.
CONCLUSION
Spinal melorheostosis is a rare condition. Histological examination should be considered in cases where the diagnosis remains suspicious after clinical and radiological evaluations.
Topics: Female; Humans; Young Adult; Adult; Melorheostosis; Thoracic Vertebrae; Erythema Nodosum; Tomography, X-Ray Computed
PubMed: 37683077
DOI: 10.2106/JBJS.CC.23.00307