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Melorheostosis is a rare dysplastic bone disease that is typically diagnosed in radiographic studies. The pathogenesis of melorheostosis remains unclear, with many genetic pathways suspected to play a role. Melorheostosis is sporadic in nature, usually limited to a single limb, extending in a sclerotomal fashion, and no clear gender predilection has been proven in the literature. Multiple case reports have described the disease characteristics in adults and involving large bones. We present a case of a 16-year-old female patient who presented with right upper limb pain with swelling. Plain X-rays showed melorheostosis of the right upper limb, demonstrating the typical “dripping candle wax” sign. Further radiographic evaluation of the patients showed that the disease extended in a sclerotome distribution, including the humerus, radius, and second, third, and fourth metacarpals and phalanges. A literature search across PubMed, Scopus and the Directory of Open Access databases was conducted to study this disease in the young age group.

Melorheostosis or osteosclerotic bone dysplasia is a rare bone dysplasia that manifests as hyperostosis of bone and usually affects appendicular skeleton, and craniofacial involvement is rare. The diagnosis is based on clinical and the radiographic features. The typical radiographic feature that has been reported is the “dripping candle wax or flowing candle wax” pattern as seen in our case. We present a case of craniofacial melorheostosis, diagnosed incidentally when the patient was referred for dental implant assessment to the department of Oral and Maxillofacial Radiology.

Melorheostosis is a rare dysplastic bone disease that usually affects long bones at the upper or lower limbs. It is rarely seen at the spine and very rarely located at the cervical spine. To the best of our knowledge, there are currently 6 cases of melorheostosis described at the cervical spine. Here, we give an overview of the current literature of spinal melorheostosis with respect to number of cases and skeletal distribution, aetiology, radiographic appearance, symptoms and treatment. Finally, we describe 3 new clinical cases with manifestation of melorheostosis at the cervical spine and the cervicothoracic junction. Highlights: •Melorheostosis is a rare dysplastic bone disease that is very rarely located at the cervical spine. •There are now – to the best of our knowledge – 8 cases described worldwide at the cervical spine. •Diagnose of melorheostosis can be made by typical radiographic appearance in the presence of a bone biopsy that excludes a solid bone tumour. •Surgical treatment as well as medication (non-steroid anti-inflammatory drugs, zoledronic acid, denosumab) may help to improve the patients' situation. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare benign bone dysplasia characterized by dysostosis and sclerosis. The classic "dripping candle wax" appearance on imaging is a typical finding for the diagnosis. The authors report the case of a patient presenting with a hard and painful mass on the dorsal side of the hand. [ABSTRACT FROM AUTHOR]

Teaching point: Melorheostosis is a rare sclerosing bone dysplasia, characterized by sclerosis at the periosteal and/or endosteal side of the cortex, causing undulating thickening of the bony contour resembling “dripping candle wax.”

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.

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.

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). [ABSTRACT FROM AUTHOR]

Background and Objectives: 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. Materials and Methods: 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. Results: 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. Conclusions: 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Melorheostosis is a relatively rare disease, which may cause chronic pain, soft tissue mass and restricted range of motion. Diagnosis and treatment of melorheostosis remains challenging., Case Report: We describe a patient with sclerotic bone involving the left acetabulum, femur, tibia, and talus. Over 19 years this patient showed slow progression of disease. The bone mass in the right popliteal region resulted in limitation of knee motion. Comprehensive management including physical therapy, medications and surgeries were adopted to obtain a full range of motion and no recurrence for 2 years., Discussion: Accurate diagnosis and adequate treatments are critical to melorheostosis patients. Resection of redundant calcified mass is an effective method to treat severe limitation of range of motion associated with knee melorheostosis., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier B.V.)

Background: Melorheostosis (MEL) is an exceptionally rare sclerosing bone dysplasia with asymmetrically exuberant bone formation and soft tissue lesions in a segmental distribution. We aimed to summarize the clinical characteristics of Chinese MEL patients and identify their pathogenic cause. Methods: In total, 10 Chinese MEL patients were recruited, and clinical manifestations and radiological characteristics were recorded. Sanger sequencing of the LEMD3 gene was performed on peripheral blood samples of all patients, while the exome sequencing of matched peripheral blood, melorheostotic bone, and skin lesion samples was conducted on one patient who provided affected bone and skin tissues. Micro‐computed tomography (micro‐CT) was also used to scan the melorheostotic bone tissue. Results: We found the average age of the 10 MEL patients was 29.5 years (range 11–40 years), and the major symptoms were bone pain, restricted movement, and bone deformity. The lesions sites were mainly located in femur (8/10), tibia (8/10), fibula (6/10), and foot (7/10), the next was pelvis (4/10), and the last were patella (1/10), hand (1/10) and spine (1/10). Radiological examinations showed a mixture of hyperostosis consisting of classic "dripping candle wax," "osteoma‐like," or "myositis ossificans‐like" patterns in most patients. No germline pathogenic variants in the LEMD3 gene were found in all patients, but a disease‐causing somatic variant of MAP2K1 (c.167A > C, p.Gln56Pro) was detected in melorheostotic bone from one patient. Moreover, the micro‐CT analysis showed increased porosity in the melorheostotic bone with somatic MAP2K1 variant. Conclusion: This is a summary of the clinical characteristics of Chinese MEL patients and we first identify the somatic MAP2K1 variant in Chinese patients. Our findings validate the molecular genetic mechanism of MEL and broaden its phenotype spectrum in the Chinese population. [ABSTRACT FROM AUTHOR]

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It is essential to consider melorheostosis in the differential diagnosis for patients presenting with soft-tissue swelling, joint contractures, and “dripping candle wax” like hyperostotic lesions on X-rays. Melorheostosis is a sporadic disease with an uncertain etiology. It is often diagnosed incidentally and can affect the bones of the vertebrae, trunk, and upper and lower extremities. It can present with compressive symptoms due to soft-tissue swelling and fibrosis. On the hand, symptoms of median nerve compression or trigger finger may occur. The treatment of this condition is primarily conservative, and surgery is reserved for patients with severe and disabling symptoms.

Abstract Background Melorheostosis is a skeletal disorder giving rise to a dripping wax appearance. The exact cause is still unclear, and the diagnosis is always challenging due to its wide differential diagnoses. Soft tissue involvement of melorheostosis has been reported in previous literatures but it is a rare phenomenon. Case presentation A 10-year-old child with melorheostosis presented with hematuria. Ultrasonography (USG) identified a cystic lesion in the right hemipelvis adjacent to the urinary bladder which was initially regarded as an ovarian cyst. Computed tomography (CT) confirmed the cystic lesion as a fusiform right internal iliac artery aneurysm, as well as multiple right retroperitoneal and right lower limb capillary hemangiomas with uterine involvement. Hence, the final diagnosis was atypical melorheostosis with vascular malformations. The patient was managed conservatively with Sirolimus therapy for the vascular anomalies. Conclusion Albeit the rare involvement of soft tissues, careful search for vascular malformation is recommended in melorheostosis.

Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which bone cortex widens and becomes hyperdense in a sclerotomal distribution. Most of the cases reported till now are confined to appendicular skeleton, rarely affecting spine. It is well known by its characteristic appearance of “melting wax flowing down a candle” on radiographs. Here we report a rare case of melorheostosis of thoracic spine in a middle-aged male patient with features of myelopathy treated by early decompression surgery, leading to complete relief of symptoms postoperatively. Final follow-up was of 2 years. It is a very rare, benign and disabling entity, and the diagnosis is primarily a radiological one. Early diagnosis and decompression surgery leads to dramatic improvement in clinical outcome and prevents unwarranted biopsy.

Background and Objectives: 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. Materials and Methods: 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. Results: 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. Conclusions: 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.

Melorheostosis is a rare congenital sclerosing bone dysplasia characterized by a distinctive "candle-like flowing wax" radiological appearance. This study presents a case of an 80-year-old male who presented with a decade-long history of left ankle pain and rigid equinus deformity, which substantially impaired his mobility and activities of daily living. Conservative interventions, including physical therapy and custom orthotics, failed to alleviate his symptoms. Subsequent arthroscopic osteotectomy and Achilles tendon lengthening engendered substantial postoperative improvements in pain relief, range of motion, and gait stability, enabling him to resume previous activities such as cycling. This study highlights the potential of minimally invasive surgical techniques in managing melorheostosis-related deformities to optimize patient outcomes and quality of life. Nevertheless, long-term follow-up is essential for assessing the risk of recurrent ankle deformity and the potential requirement for revision surgery., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Institutional Review Board of Taipei Tzu Chi Hospital issued approval #13-IRB097. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Lin et al.)

We report a case of Melorheostosis of the radius in a middle-aged woman, who presented with pain over her forearm and was incidentally diagnosed based on the radiological findings. CT scan and MRI gave further information about the extent of the disease. Patient was treated conservatively with brace application, analgesics and injection zoledronic acid which led to early symptomatic improvement.

Melorheostosis is a rare sclerosing bone dysplasia that most commonly affects the lower extremity long bones in a sclerotomal distribution. Melorheostosis of the spine is a particularly rare manifestation of this disease. In the appendicular skeleton, melorheostosis has a pathognomonic imaging appearance of flowing hyperostosis resembling melted candle wax flowing down the margins of a candlestick. In the spine, it can have a variety of imaging manifestations from unilateral focal sclerotic lesions resembling enostoses, to more bulky and deformative hyperostosis that span and fuse multiple adjacent spinal segments. This combination of nonaggressive radiologic features makes melorheostosis a particularly important diagnosis for radiologists to understand so that they may spare their patients unnecessary biopsy. Here we present the clinical features and computed tomography findings in a 33-year-old male with spinal melorheostosis involving the first and second cervical vertebrae.

Melorheostosis is an uncommon mesenchymal dysplasia manifesting as regions of sclerosing bone with a characteristic flowing candle wax appearance. We describe here a rare presentation of melhoreostosis with the intra-articular extension of the disease in the knee joint and causing medial patellar impingement.

Melorheostosis is a rare mesenchymal dysplasia of bone manifesting as regions of sclerosing and thickening of bone tissue. This disease may involve the adjacent soft tissues and lead to joint pain, limitation of joint motion, stiffness resulting from abnormal ossification and soft-tissue contractures due to periarticular fibrosis. The paper describes a clinical case of a patient who presented with pain and stiffness in the proximal part of the left hip which patient suffered for the last 10 years. At first the patient had intermittent pain in the lower back and left hip during and after walking. Radiographs revealed dense sclerotic and wavy cortex and hyperostosis involving the left iliac crest, the acetabulum, and the femur. CT angiography with contrast was performed for preoperative planning. During the procedure the authors performed total hip arthroplasty of the left hip with excision of fibro-ossifications in the left ilioinguinal area. Severe periarticular fibrosis of the soft tissue was observed intraoperatively and cartilage-like formation was visible around the joint. A sample of the ossification bone was resected for histologic confirmation of the diagnosis; extensive cortical sclerosis with varying thickness typical of melorheostosis was found. Early postoperative period went without complications following routine post-THR protocol. Postoperative X-rays at 6, 12, 24 months did not reveal any complications or new ossifications. Full ROM and pain-free function were achieved in the left hip and lower back of the patient. The present clinical case of total hip arthroplasty with excision of fibroossifications provided good clinical outcome for melorheostosis of the left hip.

Melorheostosis, also known as Leri-Joanny disease, is a rare skeletal dysplasia characterized by areas of bone sclerosis that resemble dripping candle wax. It typically manifests in infancy or adolescence and can lead to joint contractures and deformities. The condition is caused by somatic mutations in certain genes. Symptoms include localized pain, stiffness, limited range of motion, and limb swelling. Treatment focuses on pain control, but more severe cases may require surgery and bisphosphonates. This case study highlights the significant changes in bone and soft tissue that can be observed on radiographs. [Extracted from the article]

Case: A 51-year-old woman presented with a 2-month history of pain in the right thigh. Radiography and computed tomography of the pelvis showed cortical hyperostosis of the right ilium. She was diagnosed with meralgia paresthetica (MP) caused by melorheostosis involving the right ilium. After 6 weeks of conservative management, an operation was performed for the persisting pain. At the 1-year follow-up, no findings of recurrence were observed clinically and radiographically. Conclusion: MP, caused by proximal irritation of the lateral femoral cutaneous nerve, can occur because of melorheostosis, which is a rare condition. [ABSTRACT FROM AUTHOR]

Melorheostosis is a noncancerous bone disease characterized by abnormal bone and soft tissue growth. Despite being identified almost a century ago, there are still many unknown aspects surrounding this condition. It can often be an incidental discovery, with patients experiencing associated pain and deformities. Diagnosis typically relies on X-rays, although not all cases exhibit the classic candle wax appearance. A new imaging sign known as the "dumpling on a plate sign" has been proposed for flat bones for both MRI and CT scans. A biopsy may be necessary in cases of uncertainty, as there is not a definitive histological feature. It is not uncommon for melorheostosis to be linked with other conditions, and a collaborative approach involving a multidisciplinary team should be considered. This condition should be considered in the differential diagnosis of sclerotic bone conditions. Management is generally aimed at symptom relief, either through conservative measures or surgical intervention., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Deshmukh et al.)

[West J Emerg Med. 2012;13(6):503-504]

Sclerosing bone dysplasias are skeletal abnormalities of varying severity with a wide range of radiologic, clinical, and genetic features. It is divided into Hereditary and Non-hereditary. Types of hereditary sclerosing bone dysplasia include osteopetrosis, osteopoikilosis, osteopathia striata, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis, hyperostosis corticalis generalisata. Nonhereditary dysplasias include intramedullary osteosclerosis, melorheostosis, and overlap syndromes.1 Our case report below describe about Melorheostosis of the lower limb.

Abstract 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.

Background: Melorheostosis is a skeletal disorder giving rise to a dripping wax appearance. The exact cause is still unclear, and the diagnosis is always challenging due to its wide differential diagnoses. Soft tissue involvement of melorheostosis has been reported in previous literatures but it is a rare phenomenon. Case presentation: A 10-year-old child with melorheostosis presented with hematuria. Ultrasonography (USG) identified a cystic lesion in the right hemipelvis adjacent to the urinary bladder which was initially regarded as an ovarian cyst. Computed tomography (CT) confirmed the cystic lesion as a fusiform right internal iliac artery aneurysm, as well as multiple right retroperitoneal and right lower limb capillary hemangiomas with uterine involvement. Hence, the final diagnosis was atypical melorheostosis with vascular malformations. The patient was managed conservatively with Sirolimus therapy for the vascular anomalies. Conclusion: Albeit the rare involvement of soft tissues, careful search for vascular malformation is recommended in melorheostosis. [ABSTRACT FROM AUTHOR]

Background: Melorheostosis is a rare sporadic sclerosing bone dysplasia, which commonly affects appendicular skeleton with bone hyperostosis and soft tissues sclerosis; fragility fractures are rare in melorheostotic patients. We investigated bone features at unaffected sites in a postmenopausal woman with melorheostosis of the right lower limb and with a fracture of the melorheostosis-free T11 vertebral. Methodology: Melorheostotic lesions were evaluated by plain radiography, magnetic resonance of the right lower limb, and whole-body bone scintigraphy. Dual X-ray absorptiometry, trabecular bone score, and quantitative computed tomography were performed to investigate unaffected bone sites. Biochemical assessment of bone metabolism was obtained. Results: Dual X-ray absorptiometry was indicative of normal mineralization at femoral sites and osteopenia at lumbar spine (T-score −1.1), which was confirmed by spinal quantitative computed tomography (volumetric bone mineral density 89 mg/cm3). Trabecular bone score suggested only mildly altered bone microarchitecture (1.304, normal values >1.350). Bone markers were consistent with high bone turnover. Causes of secondary osteoporosis or alterations in bone metabolism were excluded. Zoledronic acid induced a reduction in bone turnover markers after 6 months without significant changes in clinical features. Conclusions: Fragility fractures at apparently unaffected sites may occur in adults with melorheostosis, in absence of significant demineralization diagnosed by dual X-ray absorptiometry, trabecular bone score, and quantitative computed tomography, which may underestimate the fracture risk in this set of patients. Treatment with zoledronate could be considered also to prevent fragility fractures. [ABSTRACT FROM AUTHOR]

Melorheostosis (MEL) is a rare benign bone disorder that can be associated with several anomalies, including vascular abnormalities, nevus sebaceus, unilateral nevoid telangiectasia, linear scleroderma and hypertrichosis. We report the case of a 6‐year‐old patient who showed an unusual co‐occurrence of bone hyperostosis and different skin lesions affecting the same side of the body: MEL, verrucous epidermal nevus, connective tissue nevus, linear scleroderma‐like disorder, hyperpigmentation and hypertrichosis. The spatial co‐occurrence of these conditions made us speculate as to whether they originated from a common genetic mechanism or if their co‐occurrence was completely accidental. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 48-year-old man with a bony swelling on the dorsal side of his right hand, exhibiting a rare condition known as melorheostosis. The patient experienced a flare-remission pattern of the tumor's expansion, leading to permanent fingernail loss and decreased mobility in the affected hand, with diagnostic confirmation based on characteristic radiographic findings and the absence of familial cases.

We report a case of Melorheostosis of the radius in a middle-aged woman, who presented with pain over her forearm and was incidentally diagnosed based on the radiological findings. CT scan and MRI gave further information about the extent of the disease. Patient was treated conservatively with brace application, analgesics and injection zoledronic acid which led to early symptomatic improvement. [ABSTRACT FROM AUTHOR]

Competing Interests: Les auteurs déclarent n’avoir aucun lien d’intérêts.

Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understood. Occasionally, the same family can include individuals with MEL and Osteopoikilosis (OPK), a disease characterised by multiple round foci of increased bone density. LEMD3 gene mutations are related to OPK and Buschke-Ollendorff Syndrome, a genetic condition in which an association between MEL, OPK and skin lesions is observed. In rare cases, LEMD3 mutations and recently mosaic MAP2K1 gene mutations have been correlated to MEL suggesting that somatic mosaicism could be causative of the disease. In this study, we described the clinical, radiological and molecular findings of 19 individuals with MEL and 8 with OPK and compared the results to the medical literature. The molecular analyses of this case series corroborate the available data in the medical literature, indicating that LEMD3 germline mutations are not a major cause of isolated MEL and reporting five further cases of OPK caused by LEMD3 germline mutations. [ABSTRACT FROM AUTHOR]

Melorheostosis, also known as Leri's disease, is a rare benign form of mesodermal mixed sclerosing bone dysplasia. We report the unusual case of a 14-year-old boy with melorheostosis in the lower extremity that went undiagnosed due to concurrent Ewing sarcoma in the opposite limb, confounding the findings for metastatic disease. The diagnosis was made on FDG PET/CT when the patient presented for post Ewing sarcoma treatment follow-up. The different types of melorheostosis as well as the challenge of diagnosing this rare entity are discussed in this report. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare non-hereditary sclerosing bone dysplasia which predominantly affects the appendicular skeleton. Although melorheostosis is typically recognized as an osseous lesion, associated soft-tissue components have been reported. Advanced imaging with MRI may allow for more complete evaluation of these soft tissue components; however, there is little information regarding their MRI characteristics which may lead to confusion with malignant processes. We present a case of melorheostosis in a 32-year-old woman with an associated paraarticular enhancing soft tissue mass and emphasize discriminating this from soft tissue sarcoma. • Meloheostosis is a rare bone dysplasia which may also cause associated soft tissue changes. • MRI appearance of the soft tissue component is variable and depends on the histologic constituents. • This report emphasizes an enhancing soft tissue component which can mimic sarcoma. • Knowledge of the variable appearance can prevent misdiagnosis and unnecessary workup. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare non‐hereditary condition characterized by dense hyperostotic lesions with radiographic "dripping candle wax" appearance. Somatic activating mutations in MAP2K1 have recently been identified as a cause of melorheostosis. However, little is known about the development, composition, structure, and mechanical properties of the bone lesions. We performed a multi‐method phenotype characterization of material properties in affected and unaffected bone biopsy samples from six melorheostosis patients with MAP2K1 mutations. On standard histology, lesions show a zone with intensively remodeled osteonal‐like structure and prominent osteoid accumulation, covered by a shell formed through bone apposition, consisting of compact multi‐layered lamellae oriented parallel to the periosteal surface and devoid of osteoid. Compared with unaffected bone, melorheostotic bone has lower average mineralization density measured by quantitative backscattered electron imaging (CaMean: –4.5%, p = 0.04). The lamellar portion of the lesion is even less mineralized, possibly because the newly deposited material has younger tissue age. Affected bone has higher porosity by micro‐CT, due to increased tissue vascularity and elevated 2D‐microporosity (osteocyte lacunar porosity: +39%, p = 0.01) determined on quantitative backscattered electron images. Furthermore, nano‐indentation modulus characterizing material hardness and stiffness was strictly dependent on tissue mineralization (correlation with typical calcium concentration, CaPeak: r = 0.8984, p = 0.0150, and r = 0.9788, p = 0.0007, respectively) in both affected and unaffected bone, indicating that the surgical hardness of melorheostotic lesions results from their lamellar structure. The results suggest a model for pathophysiology of melorheostosis caused by somatic activating mutations in MAP2K1, in which the genetically induced gradual deterioration of bone microarchitecture triggers a periosteal reaction, similar to the process found to occur after bone infection or local trauma, and leads to an overall cortical outgrowth. The micromechanical properties of the lesions reflect their structural heterogeneity and correlate with local variations in mineral content, tissue age, and remodeling rates, in the same way as normal bone. © 2018 American Society for Bone and Mineral Research [ABSTRACT FROM AUTHOR]

Melorheostosis is an uncommon mesenchymal dysplasia manifesting as regions of sclerosing bone with a characteristic flowing candle wax appearance. We describe here a rare presentation of melhoreostosis with the intra-articular extension of the disease in the knee joint and causing medial patellar impingement. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare chronic bone disease, etiology of which remains unclear. It mostly affects lower limbs and clinical features vary in each case. Radiographs show characteristic "candle wax pattern" of hyperostosis. Herein we report four cases of upper limb affection with their symptoms, radiographic findings and treatment. First case presented with gradually progressive swelling in forearm which was initially misdiagnosed as filariasis. Plain radiograph eventually demonstrated melorheostosis of ulna. Second patient had deformity of index finger and pain in hand which was diagnosed on radiograph of hand. Third case presented with progressive flexion deformity of ring and little finger. Fourth patient had ulnar involvement which was an incidental diagnosis. First three patients were managed with bisphosphonates following which there was significant improvement in pain and fourth case was kept on follow-up as he was asymptomatic. [ABSTRACT FROM AUTHOR]