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[Melorheostosis--a rare bone dysplasia].
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[Melorheostosis (author's transl)].
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Case report 843. Malignant fibrous histiocytoma of the femur arising in melorheostosis.
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[A twelve-year-old teenager with bone pain and white papules].
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 disseminated 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.
Mixed sclerosing bone dystrophy presenting with upper extremity deformities. A case report and review of the literature.
We present a detailed study of a 59-year-old white woman with mixed sclerosing bone dystrophy: the rare occurrence of two or more sclerosing bone dysplasias in a single subject. She exhibited features of osteopoikilosis, osteopathia striata and melorheostosis. The symptoms were primarily the result of the melorheostosis lesions which were distributed within the C6 sclerotome. This is an unusual case of mixed sclerosing bone dystrophy in that the upper extremity was the main site of involvement, instead of the usual symmetrical involvement of all limbs. The patient developed a recalcitrant lateral epicondylitis in the un-involved contralateral elbow that required surgical treatment.
Carpal tunnel syndrome in a melorheostotic limb.
Melorheostosis can be associated with various soft tissue lesions of the affected limb. A case is presented in which a severe carpal tunnel syndrome developed in a middle-aged woman with melorheostosis of the right upper limb since childhood.
Sclerosing bone dysplasias--a target-site approach.
Sclerosing bone dysplasias are a poorly understood group of developmental anomalies, much of whose etiology is still obscure. The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schönberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, metaphyseal dysplasia (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia. There are instances in which two or more of the above disorders coexist. These are termed "overlap syndromes", most commonly involving osteopathia striata, osteopoikilosis, and melorheostosis. A classification of these dysplasias is elaborated based on a targetsite approach that views them as disturbances in development associated with the processes of either endochondral or intramembranous bone formation, or both. Accumulated evidence suggests that many of these disorders stem from common defects in bone resorption and/or formation during the processes of skeletal maturation and modeling. Finally, the subgroup of overlap syndromes is emphasized as indicating a strong interrelationship between the sclerosing dysplasias of bone, with perhaps a common pathogenesis for many.
Mixed-sclerosing-bone-dystrophy: report of a case and review of the literature.
We present clinical, laboratory, radiologic, genetic, and pathologic findings in a 49-year-old man with mixed-sclerosing-bone-dystrophy (MSBD), review the six cases previously reported as "MSBD", and examine the nosology of this rare bone dysplasia. Our asymptomatic patient showed radiographic changes consistent with osteopoikilosis, osteopathia striata, and melorheostosis and had widespread osteosclerosis of the axial skeleton. Several previous reports of combined osteosclerotic disorders suggest the latter finding represents osteopetrosis, however, histologic examination of our patient's iliac crest excluded that diagnosis. Limited radiographic surveys of his eight children were unremarkable except for isolated bone islands in two sons. Literature review revealed that "MSBD" has actually been used generically to describe the association of a variety of osteosclerotic bone dysplasias when they occur together in a single patient.
Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis.
We present a detailed metabolic investigation and 42-year radiological follow-up of a 52-year-old man with mixed-sclerosing-bone-dystrophy, the rare occurrence of two or more distinct patterns of sclerosing-bone-dysplasia (e.g., osteopathia striata, osteopoikilosis, melorheostosis) in a single subject. Review of radiographs from 1942, when he was reported to have osteopetrosis, demonstrated diffuse osteosclerosis, osteopathia striata, osteopoikilosis, and focal cortical hyperostosis. Forty-two years later, there had been significant progression and evolution of his skeletal disease with the appearance of new areas of osteopathia striata and osteopoikilosis and a generalized increase in skeletal mass as assessed radiographically. Presence of subperiosteal bone apposition on biopsy of the iliac crest together with chronic mild hypocalcemia, secondary hyperparathyroidism, and hypophosphatemia suggested that enhanced bone formation, perhaps with defective skeletal resorption, is a fundamental abnormality which accounts for the increased bone mass of this patient.
Congenital carpal tunnel syndrome.
A case of congenital carpal tunnel syndrome associated with melorheostosis is described. The symptoms were lack of use of the hand since birth, hypotrophy of the fingers innervated by the median nerve, and severe atrophy of the thenar muscles. The total degeneration of the nerve in the carpal tunnel was successfully treated with a sural nerve graft.
Mixed sclerosing bone dysplasia--a case report with literature review.
We report a case of mixed sclerosing bone dysplasia in a 26-year-old man. This is a very rare disorder characterized by a variable combination of melorheostosis, osteopoikilosis and osteopathia striata. The disease may be generalized or may show unilateral involvement.
Intramedullary osteosclerosis. A report of the clinicopathologic features of five cases.
The clinicopathologic features of five patients with intramedullary osteosclerosis are presented. The patients, ranging in age from 8 to 52 years (mean 31 years), all presented with pain referred to the lower extremity. The sclerotic lesions involved the entire lower extremity in 1 patient, mid-tibial shaft in 2, distal tibia in 1, and distal fibula in 1 patient. The histopathologic features of intramedullary osteosclerosis overlap with those of melorheostosis. The differential diagnosis also includes a spectrum of entities, each characterized by osteosclerosis and each of which is compared and contrasted to the cases presented.
The case: your diagnosis? Osteopoikilosis.
Enostoses, osteomas, osteopoikilosis, osteopathia striata, and melorheostosis may simulate other diseases. However, the findings on imaging usually are characteristic enough to indicate the correct diagnosis.
Arthroscopic excision of intra-articular ossifications. A case report and review of the literature.
The first reported case of arthroscopic removal of an intra-articular ossified fragment is presented in a patient with melorheostosis of the knee. In this case, the patient's medical history revealed that prior to presentation the patient had experienced transient locking problems with the same knee that spontaneously resolved. Roentgenograms confirmed a 2-cm loose body in the intra-articular space of the left knee and multiple calcified aggregations in the distal femur and proximal tibia. The patient underwent arthroscopy to remove the loose body in the knee, an an intraoperative exam revealed no other abnormalities. Two years postoperatively, the patient reported no knee problems.
Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?
We present a 40-year-old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our knowledge, the association of MSBD and mental retardation has not been previously reported.
Osteoma of the innominate bone with intraosseous and parosteal involvement.
A case has been presented of a 47-year-old woman with a dense bony mass both within and on the surface of her right public ramus. This was discovered incidentally on plain radiographs of the pelvis. Besides osteoma, a differential diagnosis of parosteal osteosarcoma, ossifying parosteal lipoma, periostitis ossificans, osteochondroma with attenuated cartilage cap, and melorheostosis was considered. Histological evaluation of open biopsy samples showed typical findings of an osteoma. This is an unusual case of an osteoma with both parosteal and intraosseous involvement.