Search

Melorheostosis is a form of hyperostosis which affects both bone and the adjacent soft tissues. Its incidence is variable, although it is higher in the second and third decades of life due to the slowly progressive nature of the disease. It generally presents with pain which may cause significant functional limitation. We may be assisted in its diagnosis by its characteristic radiological image which resembles "wax melting down the side of a candle". A case of melorheostosis is presented with clinical findings and radiological characteristics. The patient had previously been diagnosed with Paget's disease of bone, so we proposed a differential diagnosis of this pathology. [ABSTRACT FROM AUTHOR]

Melorheostosis is a form of hyperostosis which affects both bone and the adjacent soft tissues. Its incidence is variable, although it is higher in the second and third decades of life due to the slowly progressive nature of the disease. It generally presents with pain which may cause significant functional limitation. We may be assisted in its diagnosis by its characteristic radiological image which resembles "wax melting down the side of a candle". A case of melorheostosis is presented with clinical findings and radiological characteristics. The patient had previously been diagnosed with Paget's disease of bone, so we proposed a differential diagnosis of this pathology. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare mixed, non-familial sclerosing bony dysplasia, with uncertain etiology (OMIM:155950). Diagnosis is based on asymmetrical radiographic pathognomonic sign of "flowing wax" hyperostosis of the cortex of tubular bones. The authors present a complex clinical case with congenital scleroderma-like disease associated with clinical and radiographic manifestations unilateral bones dysplasia. The congenital presence of scleredematous skin lesions, joint contractures and muscle atrophy raised many questions concerning their appartenance to the stiff skin syndrome or to the adjacent skin and soft tissue abnormalities accompanying melorheostosis. Molecular analyse confirmes this diagnosis (LEMD3 mutation). [ABSTRACT FROM AUTHOR]

We report a 56-year-old female with symptomatic protrusion of the bony lesion in the trapezium. Excision and biopsy of the bony lesion revealed thickened and sclerotic bony trabecula with adjacent zone of fibrocartilage, which is comparable with melorheostosis. This lesion with unique radiologic and histologic findings may be important to differentiate with other bony lesions such as myositis ossifications and osteosarcoma. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare entity belonging to the group of sclerotic bone dysplasias. Described for the first time in 1922 by Leri, it remains imperfectly known as clinical presentations are highly variable, and the etiological diagnosis is not fully elucidated. We report a case of polyostoticmelorheostosis for which radiological investigations were complete, in order to study this disease. [ABSTRACT FROM AUTHOR]

Melorheostosis is an uncommon mesenchymal dysplasia that rarely affects the axial skeleton.We describe two atypical cases of melorheostosis with classical imaging findings - the first one involving the cervico‑dorsal spine with encroachment of left vertebral artery canal causing attenuation of the left vertebral artery and the second one of mixed sclerosing bony dysplasia (monomelic involvement coexisting with osteopoikilosis). [ABSTRACT FROM AUTHOR]

We present a case of an 8-year-old boy diagnosed with melorheostosis who was suffering from severe genu valgum, permanent dislocation of the patella, knee flexion contracture and leg length shortening. Soft tissue contracture of the limb and subsequent joint deformities were reported to represent clinical manifestations of pediatric melorheostosis. As the epiphyseal plate had not closed, patellar reduction was achieved by soft tissue surgical stabilization, including lateral retinacular release, medial retinaculum plication, and transfer of the lateral half of the patellar tendon. At 4 years postoperatively, as a result of improved limb alignment and knee flexion contracture, the leg length shortening has improved, and the patient does not limp and participates in sports activities. Surgical intervention should be performed as early as possible, because genu valgum and external rotation of the tibia may deteriorate with age, rendering the patellar dislocation irreversible in patients with melorheostosis before epiphyseal closure. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare benign non-hereditary sclerosing dysplasia involving the bone, often in a sclerotomal distribution. Our case was a 27 year old lady with painful swelling of the left hand and forearm lasting for almost 15 years. The patient experienced aggravation of symptoms and limitation of motion during the past two months. Radiographic assessment revealed hyperostosis involving the left 3rd and 4th metacarpal bones and corresponding digits as well as the left ulna and distal humerus, with no soft tissue ossification. Angiographic and blood pool images of bone scintigraphy showed increased activity of mid-metacarpal region, corresponding to the sclerotom C-8. Delayed static views showed increased radiotracer uptake of the left 4th metacarpal bone and the corresponding digit as well as the left ulna and humerus, but no abnormal osteoblastic activity of the 3rd left metacarpal and digit. Histopathologic assessment confirmed the diagnosis of Melorheostosis. The case confirms that even in the same sclerotomal distribution, the multiple foci of involvement can present in different metabolic stages. In fact, the disease does not progress uniformly and different lesions can be seen in dissimilar stages of activity. Hence, metabolic imaging can be important to unmask which of the radiographically detected bony lesions are metabolically active and have the potential to be the source of current patient�s symptoms and which of them are old, metabolically inactive and silent lesions, which are not clinically relevant to the patient�s complaints.

Abstract: We present a case report of melorheostosis with the novel radiographic finding of underlying cortical resorption. A number of radiographic patterns of melorheostosis have been described; however, the combination of new bone formation and resorption of the original cortex appears unique. Although the presence of underlying lysis has been postulated in published studies, direct radiographic evidence of bony resorption in melorheostosis has not been reported. These findings can be subtle and might go unnoticed using standard imaging. An in-depth review of the radiographic features is presented, including multimodality imaging with magnetic resonance imaging and computed tomography. [Copyright &y& Elsevier]

Melorheostosis is a rare benign non-hereditary sclerosing dysplasia involving the bone, often in a sclerotomal distribution. we report the case of a 27 years old lady with painful swelling of the left hand and forearm lasting for almost 15 years. The patient experienced aggravation of symptoms and limitation of motion during the past two months. Radiographic assessment revealed hyperostosis involving the left 3rd and 4th metacarpal bones and corresponding digits as well as the left ulna and distal humerus, with no soft tissue ossification. Angiographic and blood pool images of bone scintigraphy showed increased activity of mid-metacarpal region, corresponding to the sclerotom C-8. Delayed static views showed increased radiotracer uptake of the left 4th metacarpal bone and the corresponding digit as well as the left ulna and humerus, but no abnormal osteoblastic activity of the 3rd left metacarpal and digit. Histopathologic assessment confirmed the diagnosis of Melorheostosis. The case confirms that even in the same sclerotomal distribution, the multiple foci of involvement can present in different metabolic stages. In fact, the disease does not progress uniformly and different lesions can be seen in dissimilar stages of activity. Hence, metabolic imaging can be important to unmask which of the radiographically detected bony lesions are metabolically active and have the potential to be the source of current patient's symptoms and which of them are old, metabolically inactive and silent lesions, which are not clinically relevant to the patient's complaints. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare benign bone pathology which can be responsible for incapacitating pain and bone deformations. Its imaging abnormalities are often typical. We describe here the case of a patient with melorheostosis involving the lower limbs, associated with a peripheral form of inflammatory spondyloarthropathy, who underwent 18FNa positron emission tomography coupled to a computed tomography scan. Our objective is to present this new image, to show the value of this new modality and emphasize its advantages compared to the 99mTechnetium bone scan [ABSTRACT FROM AUTHOR]

Copyright of Der Radiologe is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article examines the case of a 57-year-old patient with back pain which was described as constant and moderate to intense pain rating 8/10. Radiological findings confirmed the radiological impression of melorheostosis. Diagnosis of melorheostasis is made following the appearance of flowing hyperostosis characterized as wax flowing down the candle.

Abstract: Melorheostosis is a rare osteosclerotic bone dysplasia. It is usually characterized by dull and aching pain, reduced joint motion and contractures. Classic radiograph findings are of undulating cortical hyperostosis along the length of the bone, simulating a “dripping candlewax appearance”. We report two cases of melorheostosis of the ulna bone, diagnosed 6 years apart in two different females in their early 20s. Both the patients presented with the characteristic features of dull and aching pain in the forearm and were treated conservatively. However, we misdiagnosed the first case as bone malignancy and subjected the patient to a biopsy. For the second case, with hindsight we made the correct diagnosis based only on the classic clinical history and radiographs. We believe that the discussion of a misdiagnosed case of melorheostosis with salient findings may be important for clinicians and orthopedicians in day-to-day clinical practice. [Copyright &y& Elsevier]

Knee pain, stiffness and swelling are common complaints. Trauma and osteoarthritis are the most common diagnoses. However, benign and malignant tumours may also present around the knee. These tumours require characterization prior to definitive treatment. Here we describe a rare cause of knee stiffness with a popliteal mass. [ABSTRACT FROM AUTHOR]

Melorheostosis of the hand is rare. We report a 28-year-old woman with persistent pain associated with a slowly growing mass on the dorsum of the right thumb. The radiographs, computed tomography, and magnetic resonance imaging were used to examine characteristic of melorheostosis involving the trapezium bone, first metacarpal, and proximal phalange. The lesions underwent a surgical debulking of the hyperostotic cortex and a cortical fenestration. [ABSTRACT FROM AUTHOR]

This comprehensive review will discuss the classical and unusual radiological features of melorheostosis, which is an uncommon, non-hereditary, benign, sclerosing mesodermal disease with an incidence of 0.9 cases per million. The presentation of melorheostosis in the appendicular skeleton (more commonly involved) and in the axial skeleton (very few documented case reports) will be discussed. The aim of the review is to illustrate the associations and rare, but recognized, complications of the disorder. The role of cross-sectional imaging in the form of magnetic resonance imaging (MRI) and computed tomography (CT) in revealing the spectrum of disease manifestation and differentiation from other disease entities and malignancy will be explored. [Copyright &y& Elsevier]

Abstract  Melorheostosis is a rare, noninheritable bone dysplasia characterized by its classic radiographic feature of flowing hyperostosis resembling dripping candle wax, generally on one side of the long bone. The condition originally was described by Leri and Joanny in 1922. Its etiology remains speculative, and treatment in most instances has been symptomatic. Melorheostosis usually affects one limb, more often the lower extremity, and rarely the axial skeleton. We report a rare case of severe melorheostosis in the ipsilateral upper and lower extremities with normal contralateral extremities. The plain radiographs revealed almost all the bones in the affected extremities, from clavicle and scapula to distal phalanges of the fingers and from femur to distal phalanges of the toes, presented extensive, dense hyperostosis and heterotopic ossification in the periarticular soft tissue. Physical examination showed considerable swelling and deformities of the left limbs, stiffness and distortion of the joints, and anesthesia in the left ulnar regions of the forearm and hand. The examination of the right side was normal. Computed tomography scans showed multiple areas of classic candle wax-like hyperostosis and narrowing or disappearance of the medullary cavity. Histologic analysis confirmed the clinical and imaging diagnosis and revealed extremely dense sclerotic bone of cortical pattern. [ABSTRACT FROM AUTHOR]

Mutations in the LEMD3 gene were recently incriminated in Buschke–Ollendorff syndrome (BOS) and osteopoikilosis, with or without melorheostosis. The relationship of this gene with isolated sporadic melorheostosis is less clear. We investigated LEMD3 in a two-generation BOS family showing an extremely variable expression of the disease, in a sporadic patient with skin features of BOS, and in an additional subject with isolated melorheostosis. We identified two different mutations, both resulting in a premature stop codon, in the two cases of BOS. The mutation (c.2564G>A) reported in the familial case is novel, while that observed in the sporadic case (c.1963C>T) has been previously reported in an American woman with osteopoikilosis and melorheostosis who had a family history of isolated osteopoikilosis. The search for mutations in DNA extracted from the peripheral blood, as well as skin and bone biopsies of the patient with melorheostosis failed to identify any pathogenic change. Our results further expand the LEMD3 mutation repertoire, corroborate the extreme interfamilial and intrafamilial clinical variability of LEMD3 mutations, and underline the lack of a clear phenotype–genotype correlation in BOS. The present study supports the general conclusion that LEMD3 mutations do not contribute to isolated sporadic melorheostosis. The genetic or epigenetic influences that are responsible for the development of melorheostosis require further investigation. [ABSTRACT FROM AUTHOR]

Copyright of Der Unfallchirurg is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Melorheostosis of the hand is rare. We report a 7-year-old girl who presented with a contracture of the left hand. Diagnosis was made by conventional radiography and bone scintigraphy. MRI proved to be a very useful tool to visualize the soft-tissue changes. This is especially important when surgical repair is considered. [ABSTRACT FROM AUTHOR]

Abstract: Here we present a case report in which a teenager, with papules on the arm and back since the infancy, complained of back and right knee pain at the age of 12 years. The radiological examination led to the diagnosis of osteopoikilosis and melorheostosis. The Buschke-Ollendorff syndrome (BOS) associates osteopoikilosis (asymptomatic bone dysplasia) and dissiminated dermatofibrosis. The BOS is rare, and its association with melorheostosis (another bone dysplasia in which pain and deformity may occur) makes the prognosis uncertain. This case report highlights the diagnosis problems related with bone pain in paediatrics. The purpose of this manuscript is to present the characteristics of two bone dysplasias: osteopoikilosis and melorheostosis, and to discuss the involvement of each one in the clinical picture of our patient. [Copyright &y& Elsevier]

A 24-year-old female developed, in infancy, progressive right upper and lower limb muscle and soft tissue contractures and had a diagnosis of melorheostosis made on X-ray and pathological specimens. At the age of 11 years she began to have pain in the right hip and lower limb and this later became the dominant feature. She ultimately required amputation through the right hip joint and prosthetic fitting. She now has independent mobility with her prosthesis and has had no recurrence of pain. Her right arm remains flexed, shortened and contracted, but some hand function is retained. A review of the medical literature is discussed. [ABSTRACT FROM AUTHOR]

Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFßreceptor-activated Smads and antagonized both signaling pathways in human cells. [ABSTRACT FROM AUTHOR]

Summary We report a patient with melorheostosis in whom increased procollagen α1(I) mRNA expression and α1(I), α2(I) and α1(III) collagen secretion were observed in dermal fibroblasts obtained from a skin biopsy overlying the involved bone. The patient was a 53-year-old man with melorheostosis lesions over the left knee joint. Multiple pigmented macules were present on the medial aspect of the lower left leg. Hyperpigmentation of the basal keratinocytes, thick-walled vessels in the reticular dermis, and proliferation of normal-appearing collagen around the hair follicles were observed histologically. [ABSTRACT FROM AUTHOR]

Melorheostosis is a rare bone disease of unknown etiology. It is characterized by tense and erythematous skin, contractures and shortening of the affected limbs. Radiographs reveal hyperostosis in long bones resembling melting wax, and spotty or patchy endostic deposits in short bones. An 11-year-old girl showed, since birth, contractural deformities in the right hand without bone abnormalities. At the age of 12 months, she complained of soft tissue tightness in the right buttock. At 3 years, limitation of flexion and extension of the right knee was evident. Radiographs revealed findings typical of melorheostosis. [Copyright &y& Elsevier]

The aim of this study was to review clinical and radiological signs of melorheostosis in a large series of cases. Family history, patient history, clinical data and radiological features of 23 consecutive cases of melorheostosis were investigated. Criteria for establishing the diagnosis "melorheostosis" were defined. Sixteen patients (mean age 34 years, equal ratio between genders) had chronic pain in the affected limb(s) and/or subcutaneous fibrosis and/or various skin lesions. Number of involved bones: one bone (n = 10); two bones (n = 4); three or more bones (n = 9). Anatomic distribution: upper extremity (n = 5); lower extremity (n = 16); upper and lower extremity (n = 1); sacrum (n = 1). Radiologic pattern: osteoma-like (n = 7); classic candle wax appearance (n = 5); myositis ossificans-like (n = 1); osteopathia striata-like (n = 6); mixed pattern (n = 4). Patterns different from the appearance formerly judged to be "classic" prevail. The standard concept of disease manifestation has to be adjusted. Pathogenesis remains unclear. The classic theory claims the presence of an early embryonic infection of a sensory nerve inducing changes in the respective sclerotome, but we propose the concept of mosaicism as a better explanation for the sporadic occurrence, the asymmetric "segmental" pattern with variable extent of involvement and equal gender ratio of the disease. [ABSTRACT FROM AUTHOR]