SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Hypophosphataemic rickets/osteomalacia has been described in association with fibrous dysplasia and neurofibromatosis. This is the first reported case of melorheostosis associated with hypophosphataemic rickets. The literature is reviewed regarding the known association with the other bone dysplasias.
Two cases of melorheostosis of the hand are reported. Histopathologic examination confirmed the characteristic x-ray findings and excluded other skeletal dysplasias, such as osteopoikilosis and osteopathia striata.
The etiology, diagnosis, and treatment of two cases of melorheostosis are reported. The hyperostotic lesion corresponded well with both C7 and C8 segments of a sclerotome. The accompanying subcutaneous tumors in case 1 originated from the medical cutaneous nerve of the forearm, whose axons were coming mainly from the C8 dorsal root ganglion. These findings strongly suggest that the primary disorder exists in sensory nerves. Pain originating from the hyperostosis could be suppressed by the disodium salt of (1-hydroxyethylidene) diphosphonic acid.
Melorheostosis is a rare chronic bone disease of unknown etiology that often affects a single limb. Onset usually occurs in childhood or early adolescence. A flowing wax appearance along the surface of the bone and multiple areas of bone sclerosis produce a typical radiographic picture. We describe the first case reported in a black African, in whom an exceedingly rare feature was a bilateral distribution of the lesions.
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.
Spiral membrane cylinders have been found in the quadriceps muscle of a patient with melorheostosis. These structures were confined to type II fibres in the leg affected by the bone disease. The possible origins of such structures are discussed.
A case of melorheostosis with overlying linear skin changes is reported. The radiographic appearance is that of a linear hyperostosis which appears to flow along the cortex of the bone. This is believed to be the twelfth such case in the literature.
Experience in the management of fourteen children with melorheostosis has been reviewed. The principal and presenting clinical features were unilateral soft-tissue contractures associated with inequality of limb length. In contrast to the disease in adults, pain occurred infrequently and was never intense. The average interval between the discovery of the clinical features and the correct diagnosis was six years. The distinctive radiographic feature in the child was an endosteal pattern of hyperostosis marked by streakiness of the long bones and spotting of the small. This differs from the usual subperiosteal or extracortical pattern of hyperostosis seen in adults. The surgical treatment of the contractures proved difficult and recurrence of the deformity was the rule. Distal ischaemia occurred when the chronically contracted and flexed joint was rapidly extended.
UNLABELLED: Autosomal dominant OPK and BOS feature widespread foci of osteosclerotic trabeculae without or with skin lesions, respectively. Occasionally, a larger area of dense bone in OPK or BOS resembles MEL, a sporadic sclerosing disorder primarily involving cortical bone. Others, finding deactivating germline LEMD3 mutations in OPK or BOS, concluded such defects explain all three conditions. We found germline LEMD3 mutations in OPK and BOS but not in sporadic MEL. INTRODUCTION: In 2004, others discovered that heterozygous, loss-of-function, germline mutations in the LEMD3 gene (LEMD3 or MAN1) cause both osteopoikilosis (OPK) and Buschke-Ollendorff syndrome (BOS). OPK is an autosomal dominant, usually benign, skeletal dysplasia featuring multiple, small, especially metaphyseal, oval or round, dense trabecular foci distributed symmetrically throughout the skeleton. BOS combines OPK with connective tissue nevi comprised of collagen and elastin. In some OPK and BOS families, an individual may have relatively large, asymmetric areas of dense cortical bone interpreted as melorheostosis (MEL). MEL, however, classically refers to a sporadic, troublesome skeletal dysostosis featuring large, asymmetric, "flowing hyperostosis" of long bone cortices often with overlying, constricting soft tissue abnormalities. However, a heterozygous germline mutation in LEMD3 was offered to explain MEL. MATERIALS AND METHODS: We studied 11 unrelated individuals with sclerosing bone disorders where LEMD3 mutation was a potential etiology: familial OPK (1), familial BOS (2), previously reported familial OPK with MEL (1), sporadic MEL (3), sporadic MEL with mixed-sclerosing-bone dystrophy (1), and patients with other unusual sclerosing bone disorders (3). All coding exons and adjacent mRNA splice sites for LEMD3 were amplified by PCR and sequenced using genomic DNA from leukocytes. We did not study lesional tissue from bone or skin. RESULTS: In the OPK family, a heterozygous nonsense mutation (c.1433T>A, p.L478X) was discovered in exon 1. In the two BOS families, a heterozygous nonsense mutation (exon 1, c.1323C>A, p.Y441X) and a heterozygous frame-shift mutation (exon 1, c.332_333insTC) were identified. In the individual with MEL and familial OPK, a heterozygous nonsense mutation (c.1963C>T, p.R655X) was detected in exon 7. However, no LEMD3 mutation was found for any other patient, including all four with sporadic MEL. CONCLUSIONS: We confirm that OPK and BOS individuals, including those with MEL-like lesions, have heterozygous, deactivating, germline LEMD3 mutations. However, MEL remains of unknown etiology.
A case of para-articular ossifications associated with melorheostosis gave differential diagnostic problems, as the only symptom referred to the ossifications in the left knee region.
Melorheostotic bone was examined histopathologically. In the severely affected areas, an abundance of osteoid and increased angiogenesis was observed. Increased osteoid without mineralization indicated the overproduction of bone matrix. Bone resorption also appeared to increase because osteoclasts were numerous in melorheostotic bone, thus suggesting a high rate of bone turnover. In addition, transforming growth factor-beta was immunolocalized in the periosteal fibroblasts, mesenchymal cells surrounding vessels, endothelial cells, and osteoblasts, while basic fibroblast growth factor was found in endothelial cells and mast cells near vessels. These cytokines may have some association with the exuberant bone matrix production and angiogenesis in melorheostosis.
Melorheostosis is a seemingly rare condition of unknown etiology. Although it affects bone primarily, it may also involve soft tissue. The lower extremities are most frequently affected, and joints may become stiff as a result of obstruction of joint motion by thickened cortical sclerosis. The disease is difficult to diagnose in the early stages before bone changes become evident, and it is easily misdiagnosed. Surgery may be required to prevent deformity or to restore normal function.
We report an unusual case of unilateral melorheostosis and ipsilateral extensive sebaceous nevus. Because the two conditions affected the same side of the body, we hypothesize that they originated from a common genetic mechanism. The temporal and spatial co-occurrence may represent a further example of non-allelic didymosis (twin spotting). The embryo would carry two different recessive mutations at one gene locus or at linked loci on either of a pair of homologous chromosomes. Postzygotic recombination occurring during early embryonic development would result in two different populations of cells homozygous for either mutation. If this concept holds true, the present case may be described as " didymosis melorheosebacea ".
Three pediatric cases of Leri's melorheostosis are reported. Growth disorders and deformities of the limbs are often the first signs in children. X ray shows areas of very opaque condensation of the long bones parallel to the main axis of the bones parallel to the main axis of the bone, and on the epiphyses, small dense and irregular islets. The course is benign but there may be orthopedic complications.
Melorheostosis is a rare form of cortical hyperostosis that resembles wax dripping down the side of a candle. This disease usually affects the long and short bones of an extremity. Literature review and a case report will be discussed with respect to incidence, clinical presentation, radiographic appearance, and treatment.
The rare syndrome of Lér's melorheostosis is described on the basis of a case encountered in one of our own patients, a 29 year old male patient. Particular attention is given to the symptoms, the specific results of clinical examination, and the differential diagnosis.
A case of melorheostosis with osteopoikilosis and linear scleroderma is reported. The authors emphasize the rarity of the disease, the complexity of the therapeutic approach to the patient.
Melorheostosis is a rare sclerosing bone dysplasia affecting children and adults. Concerning the etiology it seems to be a metameric abnormality of the tissue of mesodermal origin, which is initiated early in embryonic life prior to the formation of the extremity buds. The flowing hyperostosis is usually associated with limb deformity, soft tissue contractures, severe pain and stiffness of joints. Bone scanning complements standard radiologic studies and permits evaluation of the extent and activity of the disease. Conservative treatment is disappointing. Thus we recommend the excision of the exostoses at an early state to prevent further deformity as is shown in a clinical case report.