Unusual tumors of the forearm and hand; a report on melorheostosis and neurofibroma. I. Melorheostosis, with case report.
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[Melorheostosis associated with arteriovenous malformation of the ear].
BACKGROUND: Melorheostosis is a rare bone dystrophy that may be associated with various vascular malformations. We report a case of arteriovenous fistulae of the ear associated with melorheostosis limited to the same side of the body. CASE REPORT: A 13 year-old boy presented a congenital port-wine nevus of the right side of the head complicated by an arteriovenous fistulae and angiomatous nodules of the ear. He was treated by laser, surgery of the nodules, arterial embolisations and sclerotherapy. In 1999, he had a benign trauma of the right hand. The X-ray showed hyperostosis resembling wax flowing down a candle reaching the carpus and some of the metacarpals and the phalanges of the right hand, typical of melorheostosis. The complete radiographic check-up showed the same characteristic appearance on the right side of the skull and the long bones of the right upper limb. Except a deformation of the right fingers, there were no others symptoms. DISCUSSION: Melorheostosis is a rare, sporadic and benign bone dysplasia that may be localized to a single limb or disseminated. The diagnosis is usually made in late childhood. Pain, stiffness, deformation of a limb are the main clinical manifestations. The skin may be erythematous and sclerotic. The radiographic appearance is characteristic with hyperostosis on one side of the bone resembling wax flowing down a candle. A vascular abnormality is present in 17 p. 100 of cases (hemangiomas, aneurysms, renal artery stenosis.). In these cases, melorheostosis is usually limited to the same side of the vascular lesion. We report the first case of arteriovenous fistulae of the ear associated with melorheostosis, on the same side of the body. The physiopathology of melorheostosis is still unknown but the association with a homolateral vascular abnormality suggests a localized defect in embryogenesis of the vascular and skeletal systems.
Arteriovenous Fistula↗
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and 12 unrelated patients with isolated melorheostosis. Seven novel LEMD3 mutations were identified, all predicted to result in loss-of-function of the protein. We confirm that loss-of-function mutations in the LEMD3 gene can result in either osteopoikilosis or BOS. However, LEMD3 germline mutations were only found in two melorheostosis patients belonging to a different BOS family and one sporadic patient with melorheostosis. The additional presence of osteopoikilosis lesions in these patients seemed to distinguish them from the group of sporadic melorheostosis patients where no germline LEMD3 mutation was identified. Somatic mosaicism for a LEMD3 mutation in the latter group was also not observed, and therefore we must conclude that the genetic defect in the majority of sporadic and isolated melorheostosis remains unknown.
Alleles↗
Painful lumbosacral melorheostosis treated by fusion.
STUDY DESIGN: A case report of low back pain associated with a diagnosis of melorheostosis of the lumbosacral spine. OBJECTIVE: To describe a rare presentation of melorheostosis and subsequent successful surgical treatment. SUMMARY OF BACKGROUND DATA: Melorheostosis is a rare condition and spinal pain has not been described in association with the condition. METHODS: A patient with disabling low back pain and suspected melorheostosis of the lumbosacral spine responded favorably to diagnostic facet joint blocks. Treatment was lumbosacral fusion and biopsy of the abnormal bone. The densely sclerotic bone presented technical difficulties requiring modification of surgical technique. RESULTS: Dramatic pain and disability reduction occurred following lumbosacral fusion. Histologic examination was consistent with melorheostosis. CONCLUSION: Melorheostosis rarely causes severe low back pain that can respond favorably to fusion surgery.
Female↗
Melorheostosis in a family with autosomal dominant osteopoikilosis.
We describe a 19-year-old woman with melorheostosis and osteopoikilosis (mixed sclerosing bone dysplasia). Her sister and mother had osteopoikilosis, but no evidence of melorheostosis. Isolated melorheostosis and melorheostosis with osteopoikilosis are sporadic disorders. Osteopoikilosis is an autosomal dominant trait. Mixed sclerosing bone dysplasia in a family with autosomal dominant osteopoikilosis raises the possibility that the two bone disorders may be related. This family and that of Butkus et al. [1997: Am J Med Genet 72:43-46] suggest that the melorheostosis could be due to a second mutation at the same locus as that which causes autosomal dominant osteopoikilosis.
Adolescent↗
Renal artery stenosis associated with melorheostosis.
Melorheostosis is a benign, rare, congenital disorder of hyperostosis of one or more bones. In this report, we describe a 5-year-old girl with melorheostosis of the left iliac wing, femur, and tibia who developed severe hypertension secondary to left renal artery stenosis. Numerous soft tissue and vascular anomalies have been reported in patients with melorheostosis. To our knowledge this is the first case where renal artery stenosis has been associated with melorheostosis. Several hypotheses for bone and vascular involvement in melorheostosis are reviewed.
Child, Preschool↗
[The relation between melorheostosis and tumors].
Melorheostosis was diagnosed in a 13 year old female. Two years later an x-ray of the skull showed an calcified intracerebral mass. At the age of 18 years the patient died. The autopsy confirmed the diagnosis of melorheostosis and revealed a meningioma of falx cerebri in close proximity to predominantly intraventricular calcified tissue. A neurinoma of the left acoustic nerve was also found. In the literature melorheostosis has been anecdotally described in combination with nevi, hemangiomas, pelvic lipoma, lipoma of the spinal cord, chondrofibromas of the median nerve, tuberous sclerosis and neurofibromatosis. The nature of the relationship between melorheostosis and neoplasms has not been clarified. Those observations as well as the present report indicate an increased frequency of tumors (particularly of the nervous system) in patients with melorheostosis.
Adolescent↗
Melorheostosis in a patient with familial osteopoikilosis.
We report on a 40-year-old woman with melorheostosis who also had radiographic findings of generalized osteopoikilosis. Three of her sibs have osteopoikilosis, but none of them have melorheostosis. Several cases of "mixed sclerosing bone dysplasia" have been described previously, and all have been sporadic. Isolated melorheostosis without osteopoikilosis is also generally a sporadic condition, but osteopoikilosis has been described as an autosomal-dominant trait. The finding of mixed sclerosing bone dysplasia in a family with osteopoikilosis suggests that the melorheostotic component of this disorder may be due to a second mutation at the same locus that causes isolated familial osteopoikilosis.
Adult↗
A TGF-beta-inducible cell adhesion molecule, betaig-h3, is downregulated in melorheostosis and involved in osteogenesis.
Melorheostosis is a rare bone disease characterized by linear hyperostosis and associated soft tissue abnormalities. The skin overlying the involved bone lesion is often tense, shiny, erythematous, and scleodermatous. In order to look for genes differentially expressed between the normal and involved skin, we cultured skin fibroblasts from the skin lesions of several afflicted patients, and identified differentially expressed genes by reverse dot-blot hybridization. We found that the genes human TGF-beta-induced gene product (betaig-h3), osteoblast-specific factor 2, osteonectin, fibronectin, and type I collagen were all downregulated in the affected skin fibroblasts, with betaig-h3 the most significantly affected. The expression of betaig-h3 was induced by TGF-beta in both affected and normal fibroblasts. In an effort to determine the mechanism of bone and skin abnormalities in melorheostosis, we made recombinant betaig-h3. Both immobilized and soluble recombinant betaig-h3 proteins with or without an RGD motif inhibited bone nodule formation of osteoblasts in vitro. Taken together, our results suggest that altered expression of several adhesion proteins may contribute to the development of hyperostosis and concomitant soft tissue abnormalities of melorheostosis, with betaig-h3 in particular playing an important role in osteogenesis.
Animals↗
Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis.
Melorheostosis is a non-hereditary disorder involving the bones in a segmental pattern, whereas osteopoikilosis is a rather mild disseminated bone disorder inherited as an autosomal dominant trait. Interestingly, melorheostosis and osteopoikilosis may sometimes occur together. In analogy to various autosomal dominant skin disorders for which a type 2 segmental manifestation has been postulated, melorheostosis may be best explained in such cases as a type 2 segmental osteopoikilosis, resulting from early loss of the corresponding wild type allele at the gene locus of this autosomal dominant bone disorder.
Bone and Bones↗
Case report 771: Melorheostosis in association with desmoid tumor.
Melorheostosis is a rare congenital disease, some 300 cases have been reported in the literature. The main purpose of this case report is twofold: (1) to present an unusual case of melorheostosis of the right hand, beginning in infancy, with serial radiographic studies to show the gradual progression of the disease; and (2) to present the first case with the development of "aggressive" fibromatosis (desmoid tumor) of the adjacent soft tissues, associated with melorheostosis.
Child↗
Melorheostosis: report of a new case with linear scleroderma.
Melorheostosis is a very rare bone disease of unknown etiology characterised by linear hyperostosis and associated with fibrosis of soft tissues and the skin. This uncommon sclerosing bone dysplasia was first described by Leri and Joanny in 1922, and since then, until 1993, approximately 300 cases were reported in the literature. Linear scleroderma is a localised proliferation of connective tissue and has rarely been associated with melorheostosis. In this paper, we present a new case of melorheostosis with linear scleroderma which, to the best of our knowledge, is the first case reported in Turkey.
Bone and Bones↗
Advanced imaging of melorheostosis with emphasis on MRI.
OBJECTIVE: To describe the CT and MR imaging appearance of both osseous and extraosseous manifestations of melorheostosis. DESIGN AND PATIENTS: We retrospectively reviewed the CT (n=7) and/or MR imaging findings (n=12) of 17 patients with characteristic radiographic findings of melorheostosis (undulating cortical hyperostosis with marked uptake on radionuclide bone scintigraphy). RESULTS: CT and MR imaging revealed cortical hyperostosis as high attenuation and low signal intensity on all MR pulse sequences, respectively. Encroachment on the marrow space was seen in all cases resulting from endosteal involvement. Thirteen patients demonstrated 14 soft tissue masses with infiltrative margins in 80% of cases and seven showed extensive mineralization on CT or MR imaging (low intensity on all pulse sequences). Seven soft tissue masses were predominantly nonmineralized with intermediate signal intensity on T1-weighted and intermediate to high signal on T2-weighted MR images corresponding to vascularized fibrous tissue with variable collagen content pathologically. Enhancement after intravenous gadolinium was seen in all patients imaged with soft tissue masses (n=2). Two patients demonstrated muscle atrophy resulting from nerve involvement. CONCLUSIONS: The osseous abnormalities in melorheostosis are identical on advanced imaging and radiographs. Mineralized or nonmineralized soft tissue masses should be recognized as another manifestation of this disease as opposed to a more ominous finding, making biopsy unwarrranted.
Adolescent↗
Melorheostosis: a review of 23 cases.
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.
Adolescent↗
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.
Angiography↗
Myelopathy associated with melorheostosis: a case report.
A man in his mid thirties presented with lower-extremity weakness and spasticity because of a myelopathy caused by a rare disorder of bone known as melorheostosis. The primary pathology involved was compression of the cord at the cervicothoracic levels by dystrophic osseous formation within the vertebral bodies. Based on a review of existing literature, it was evident that the spine is an uncommon location to find melorheostosis, making this disease entity a unique cause of myelopathy. The patient's progress was closely observed during his inpatient rehabilitation program, after he underwent spinal decompression surgery. Starting from the level of complete paralysis, he was able to regain functional strength in his legs by the end of his 2-month course. Despite the lack of reported outcomes in cases of myelopathy associated with melorheostosis, our report describes a favorable prognosis with good recovery of both strength and function.
Adult↗
Osteosclerotic bone dysplasia (melorheostosis) of the mandible.
Melorheostosis is a linear bone dysplasia of unknown origin that may be associated with soft-tissue alterations. Although any part of the skeleton can be affected, this condition is rarely observed in the craniofacial region. Only seven cases of melorheostosis with craniofacial involvement have been reported and cranial manifestation only is even rarer. To the authors' knowledge, manifestation in the mandible only has not yet been documented. A patient with isolated melorheostosis of the mandible with characteristic symptomatic bone pain is presented. The clinical, radiological and histological findings are described and possible therapeutic options are discussed.
Adolescent↗
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
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-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells.
Base Sequence↗