Melorheostosis: A Review of the Literature and a Case Report.

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: a Rare Sclerosing Bone Dysplasia.

PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. RECENT FINDINGS: Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series. Melorheostosis affects the appendicular skeleton more commonly than the axial skeleton and usually presents with lower limb deformity. Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing bone dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. The exact etiology of classic sporadically occurring melorheostosis remains unknown, with possible causes being somatic LEMD3 mutations, somatic mutations in the bone morphogenetic protein/transforming growth factor-beta pathway, mutations in multiple genes, or other non-genetic causes. Management in recent years has involved nitrogen-containing bisphosphonates in addition to traditional orthopedic surgical approaches and physical therapy. Melorheostosis may present as mixed or atypical osseous involvement in addition to the classically described "dripping candle wax" appearance of hyperostosis. Some patients may have overlap with osteopoikilosis or Buschke-Ollendorff syndrome. In the future, better characterization of genetic and developmental factors predisposing to melorheostosis may lead to the development of targeted therapy for this condition, as well as for more commonly encountered skeletal abnormalities.

Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic.

BACKGROUND: Current understanding of the clinical features of persons with melorheostosis is restricted primarily to individual case reports and small case series. OBJECTIVE: To assess the clinical features of patients with melorheostosis treated at our institution from 1972 through 2010. DESIGN: Chart review. SETTING: Tertiary academic medical center. PARTICIPANTS: Twenty-three patients with "definite" and one patient with "probable" melorheostosis based on radiographic criteria. METHODS: The eligible study cohort was identified through the Rochester Medical Index database. Further diagnostic confirmation of patients with melorheostosis was performed by radiographic review. MAIN OUTCOME MEASUREMENTS: We evaluated age at first visit to our institution, gender, affected body area, number of bones affected, presenting symptoms, surgical evaluation, and therapies provided. RESULTS: The average age at first evaluation at our clinic was 36.5 years (median 41.5 years, range 3-68 years). The female to male ratio was 4:1. The lower extremity was most commonly affected (66.6%), followed by upper extremity (33.3%), spine (16.6%), and head (8.3%). One-third of patients had involvement of a single bone; two-thirds had multiple bone involvement. Pain was the most common presenting concern (83.3%), followed by deformity (54.1%), limitation of movement (45.8%), numbness (37.5%), and weakness (25.0%). Most patients had a physician evaluation (87.5%); patients also underwent orthopedic surgery (45.8%), physical therapy (33.3%), and occupational therapy (12.5%). CONCLUSIONS: Melorheostosis is a rare sclerotic bone disease resulting in pain, deformity, and dysfunction. An interdisciplinary approach to care should include nonoperative and operative evaluation, as well as appropriate therapies. A prospective approach to evaluation, including imaging and physical examinations, would provide valuable longitudinal data. LEVEL OF EVIDENCE: IV.

Melorheostosis: segmental osteopoikilosis or a separate entity?

PURPOSE: Melorheostosis is a progressive hyperostotic bone disease that commonly affects the appendicular skeleton. Melorheostosis has a significant degree of overlap with other hyperostosis conditions including osteopoikilosis and likely represent varying degrees of a clinical spectrum. METHODS: This is a report of 2 patients with melorheostosis who presented with different clinical presentations and involvement of different anatomic locations. RESULTS: One of the patients presented with foot size asymmetry along with intermittent foot pain and limping. This patient also had irregular nonblanching yellow plaque-like lesion on the forehead. The second patient presented with abnormal gait but no pain. Radiographs demonstrated endosteal hyperostosis, which were consistent with a mixed picture of melorheostosis and osteopoikilois. Genetic testing of the LEMD3 gene from a blood sample was negative in both cases. CONCLUSIONS: The diagnosis of melorheostosis can be made based on the clinical and radiographic features and can be challenging to differentiate from other hyperostosis conditions. LEVEL OF EVIDENCE: Level V.

Three cases of melorheostosis with foot and ankle involvement.

Melorheostosis is a rare and poorly understood condition of bone and soft tissue with a wide range of clinical presentations. This condition is typically characterized by cortical hyperostosis and pain in the involved extremity, but can also be associated with soft-tissue masses and limb deformities that may be additional sources of disability for those affected by this disease. Characteristic radiographic findings can aid in establishing an accurate diagnosis and the condition should not be mistaken for more aggressive neoplasms. This chronic condition is typically managed nonoperatively, but more invasive measures may be necessary when nonoperative measures fail. In cases of surgical intervention, physicians and patients should be aware that this disease has a high recurrence rate. Although there are only a few reports of melorheostosis in the foot and ankle, it is important to be aware of the difficulties the condition may cause in this anatomical location. Melorheostosis can be a source of significant morbidity when the foot and ankle are involved, especially when complicated by symptomatic soft-tissue masses. In this article, we report 3 cases of melorheostosis in the foot and ankle with distinct presentations and variations in outcomes.

Melorreostosis: presentación de un caso y revisión de la literatura / Melorheostosis, a case report

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Melorreostosis de la mano en un paciente pediátrico / Melorheostosis of the hand in a pediatric patient

La melorreostosis es una rara displasia ósea benigna esclerosante.Su etiología es desconocida y ambos sexos pueden verse afectados. Los huesos largos de las extremidades inferiores y los tejidos blandos adyacentes son los más frecuentementeinvolucrados. La enfermedad se presenta raramente en los miembros superiores y se han comunicado muy pocos casos localizados en la mano. Comunicamos el caso de una niña de 7años de edad que presenta características típicas de melorreostosisen la mano derecha. El diagnóstico se realizó mediante radiografía convencional y gammagrafía ósea. La resonancia magnética contribuyó a la evaluación de las lesiones en partesblandas. El tratamiento médico permitió aliviar el dolor y mejorar la movilidad. Como la melorreostosis tiene una tendencia variable hacia la progresión de las lesiones y asociación conpatologías tumorales, se recomienda un estricto control periódicode estos pacientes.

Melorheostosis is a rare benign sclerosing bone dysplasia. Its etiology is unknown. Both sexes can be affected. Sites most frequently involved are the long bones of the lower limbs andthe adjacent soft tissue structures. The disease is unusual in the upper limbs, and few cases have been reported in the hand. We report the case of a 7-year-old girl who had typical featuresof melorheostosis in the right hand. Diagnosis was made by conventional radiography and bone scintigraphy. Magnetic resonance contributed to the assessment of soft tissue lesions.Medical treatment allowed pain relief and range of motion improvement. Because melorheostosis has a variable tendency towards progression and association with tumors, a close follow-up of these patients is recommended.

Melorheostosis: clinicopathological features, diagnosis, and management.

Melorheostosis is a rare sclerosing bone disease. This article describes the histological patterns and radiographic characteristics commonly associated with melorheostosis. A paucity of compiled data about the disease in the literature necessitated a comprehensive review to further define its management.

Lower-extremity sclerotomes: clinical applications and the modified mayo block.

A sclerotome is an anatomical concept that defines an area of bone supplied by a single spinal nerve. Similar to the familiar dermatomes, sclerotomes provide an element of depth to the sensory innervation of the lower extremity based on the deep fascia as an embryologic boundary. Anatomical knowledge of sclerotomes can be used clinically in the diagnosis and treatment of pain and in the perioperative setting. Specifically, a modified version of the classic Mayo block is presented to highlight an active anatomical approach to peripheral nerve blockade.

Melorheostosis in the upper extremity.

Melorheostosis is a rare mesodermal disease affecting the skeleton and adjacent soft tissues. Often it is incidentally detected on radiographs. In the standard radiology and orthopedics literature, melorheostosis is described as a "flowing hyperostosis, resembling dripping candle wax as an incidental radiographic finding." A 22-year-old man presented with a 2-year history of right-hand pain. Radiologic evaluation of the hand showed massive sclerotic changes in the first and second metacarpal and phalangeal bones on the right side. Further radiographic evaluation of the right upper extremity revealed the same sclerotic changes in the right scapula, humerus, radius, and scaphoid. Computed tomography (CT) scans showed a high attenuation undulating cortical hyperostosis with a "dripping candle wax appearance" involving the radial and/or dorsal aspects of humerus, radius, scaphoid, and first and second ray bones of the hand. Radionuclide triphasic bone scintigraphy showed diffuse homogenous radiotracer uptake within the entire right upper extremity involving the scapula, humerus, radius, scaphoid, and first and second metacarpals and phalangeal bones of the hand. The patient was followed conservatively, and 1-year follow-up revealed no change in the clinical, laboratory, or radiological findings. The diagnosis of melorheostosis was made on the basis of the characteristic distribution, location, and combined radiographic, CT, and radionuclide imaging features of the abnormalities. Conservative treatment was recommended for the patient. After 26 months of follow-up, despite the persistence of the radiologic findings, the patient is currently well, with no painful symptoms unless he performs forceful exercise.

Melorheostosis in a pediatric patient.

Melorheostosis is a nonhereditary and uncommon condition that can affect both adults and children. It can appear on radiographs as increased sclerosis on bones of the upper and lower extremities and may mimic other bony conditions such as osteopoikilosis, osteopetrosis, arthrogryposis multiplex congenita, and osteopathia striata. The sclerotic appearance can differ greatly between adults and children. The skin and subcutaneous tissues may be affected by fibrosis, resulting in contractures of joints and limbs that lead to deformities and limb-length discrepancies. This article reviews the literature on melorheostosis and describes a case in a 10-year-old boy.

Melorheostosis with occlusion of dorsalis pedis artery.

Melorheostosis is an unusual sclerotic dysplasia of bone. The case of a 51-year-old female patient with melorheostosis and occlusion of the dorsalis pedis artery is described. Although numerous vascular anomalies have been noted in patients with melorheostosis, occlusion of the dorsalis pedis artery has not been reported previously.

Melorreostosis. Presentación de un caso y revisión de la literatura / Melorheostosis. Case report

La melorreostosis es una enfermedad poco común, se describió desde 1933, su etiología es poco precisa aun cuando se cree que es de origen genético con defectos en la capa mesodérmica. Se describe el caso de una niña diagnosticada y tratada en el Hospital Shriners. En esta patología se observa, a nivel óseo, el engrosamiento de la cortical y según su extensión, en los huesos de todo un miembro o en una porción de un solo hueso producirá una deformación total o parcial del miembro

Melorheostosis of the foot: a case report and review of the literature.

As seen in the case presented, melorheostosis is a bony dysplasia showing irregular wavy lines of hyperostotic bone. Clinically, patients present variably, ranging from incidental radiographic discovery of the syndrome to severe deformities and pain. Subsequently, diagnosis is often delayed or missed. Treatment is usually symptomatic, although surgical correction of deformities is often pursued. Unfortunately, these surgeries may be complicated with frequent vascular problems and deformities usually recur. Thus, treatment of melorheostosis should be individualized based on the patient's lifestyle, progression of disease and age.