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PubMed2003

The acrophysis: a unifying concept for enchondral bone growth and its disorders. I. Normal growth.

In order to discuss and illustrate the common effects on normal and abnormal enchondral bone at the physes and at all other growth plates of the developing child, the term "acrophysis" is proposed. Acrophyses include the growth plates of secondary growth centers including carpals and tarsals and apophyses, and the growth plates at the non-physeal ends of small tubular bones. The last layer of development of both physes and acrophysis is the cartilaginous zone of provisional calcification (ZPC). The enchondral bone abutting the ZPC shares similar properties at physes and acrophyses, including the relatively lucent metaphyseal bands of many normal infants at several weeks of age. The bone-in-bone pattern of the normal vertebral bodies and bands of demineralization of the tarsal bones just under the ZPC are the equivalent of those bands. The growth arrest/recovery lines of metaphyses similarly have equivalent lines in growth centers and other acrophyseal sites. Nearly the same effects can also be anticipated from the relatively similar growth plate at the cartilaginous cap of benign exostoses ("paraphysis"). The companion article will explore abnormalities at acrophyseal sites, including metabolic bone disease and dysplasias.

Bone Development↗
PubMed2006

Osteochondroma causing diaphragmatic rupture and bowel obstruction in a 14-year-old boy.

Exostosis, also known as osteochondroma, results from a disorder of the growth-plate where bone grows away from the growth axis and forms an irregular projection. This abnormality most commonly occurs around the femur, scapula, humerus, and ribs. Although hemothorax and diaphragmatic rupture are known complications of exostosis growth, we present herein the first known report of an inward-facing exostosis in a 14-year-old boy with hereditary multiple exostosis causing diaphragmatic rupture and a bowel obstruction requiring operation. Most exostoses are asymptomatic and as such require no further treatment. However, when they are threatening to cause mass effects (such as frictional bursitis, local entrapment of vessels, and tendons or nerves) or symptomatic, surgical resection is the appropriate treatment.

Adolescent↗
PubMed1986

Exostosis as a cause of spinal cord compression.

A patient harboring multiple hereditary exostoses with a long-lasting tetraparesis owing to intraspinal osteochondroma is described. The results of surgical treatment were poor in contrast to the results achieved by other previous authors performing decompression of the spinal cord. The related literature is briefly reviewed and conclusions are drawn in favor of computed tomographic examination of the spine of patients with vertebral complaints.

Adult↗
PubMed1991

Distraction lengthening of the forearm.

Seven patients aged six to 25 underwent progressive distraction lengthening of the forearm. Five had lengthening of the ulna and two of the radius. Four cases had multiple exostoses, two had post-traumatic distal epiphyseal arrests and one had dyschondrosteosis. Two methods were used: the Wagner technique of diaphyseal distraction and bone grafting, or diaphyseal corticotomy and callus distraction without bone grafting. The average lengthening achieved was 3 cm. Review after one to three year's follow-up showed satisfactory improvement in appearance and function in all cases, with minimal complications.

Adolescent↗
PubMed2006

Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients.

Multiple hereditary exostoses (MHE) is an autosomal dominant skeletal disorder caused by mutations in one of the two EXT genes and characterized by multiple osteochondromas that generally arise near the ends of growing long bones. Defective endochondral ossification is likely to be involved in the formation of osteochondromas. In order to investigate potential changes in chondrocyte proliferation and/or differentiation during this process, osteochondroma samples from MHE patients were obtained and used for genetic, morphological, immunohistological, and in situ hybridization studies. The expression patterns of IHH (Indian hedgehog) and FGFR3 (Fibroblast Growth Factor Receptor 3) were similar with transcripts expressed throughout osteochondromas. Expression of PTHR1 (Parathyroid Hormone Receptor 1) transcripts was restricted to a narrow zone of prehypertrophic chondrocytes. Numerous cells forming osteochondromas although resembling prehypertrophic chondrocytes, stained positively with an anti-proliferating cell nuclear antigen (PCNA) antibody. In addition, ectopic expression of collagen type I and abnormal presence of osteocalcin (OC), osteopontin (OP), and bone sialoprotein (BSP) were observed in the cartilaginous osteochondromas. These data indicate that most chondrocytes involved in the growth of osteochondromas can proliferate, and that some of them exhibit bone-forming cell characteristics. We conclude that in MHE, defective heparan sulfate biosynthesis caused by EXT mutations maintains the proliferative capacity of chondrocytes and promotes phenotypic modification to bone-forming cells.

Adolescent↗
PubMed2005

Spinal cord compression due to vertebral osteochondroma: report of two cases.

Osteochondroma, or exostosis, is the most common of all benign bone tumors. Spinal osteochondromas are uncommon but may cause neurological compromise. We report two cases of spinal cord compression by osteochondromas. One patient was a 17-year-old man with hereditary multiple exostoses who was presented with spastic paraparesis, a sensory level at T3-T4, and a pyramidal syndrome. Vertebral exostosis was suspected by magnetic resonance imaging and confirmed by histological examination. Surgical decompression was followed by complete resolution of the neurological impairments. The other patient was a 19-year-old man with spastic paralysis of the right lower limb and a pyramidal syndrome. Whereas magnetic resonance imaging suggested a neurofibroma, histological features were those of osteochondroma. Nine months elapsed from symptom onset to surgery. This delay led to residual neurological impairments, which resolved almost completely after rehabilitation therapy. Vertebral osteochondromas contribute only 1.3-4.1% of all osteochondromas. The lesion may be solitary or a manifestation of hereditary multiple exostosis. Magnetic resonance imaging shows the exact location of the lesion, most notably with relation to neighboring neurological structures. Spinal cord compression is uncommon and usually has a favorable outcome provided surgical decompression is performed before major neurological damage develops.

Adolescent↗
PubMed2005

Pseudoaneurysm associated with multiple osteochondromatosis.

The authors present a case of a 12-year-old boy with a known family history of multiple hereditary exostoses who presented with knee swelling. Physical examination and subsequent workup revealed a pseudoaneurysm associated with an osteochondroma. We present this interesting case and review the literature.

Aneurysm, False↗
PubMed1993

Ophthalmologic examination in the diagnosis of Proteus syndrome.

PURPOSE: To describe the clinical features of Proteus syndrome, a rare recently recognized hamartoneoplastic malformation, with emphasis on the ocular findings. METHODS: Complete physical and ocular examination of two new patients with Proteus syndrome. RESULTS: The two reported cases illustrate the wide clinical polymorphism of Proteus syndrome and the overlap of its clinical manifestations with those of other overgrowth syndromes. Both patients had periorbital exostoses and epibulbar tumors. The ocular findings are compared with those in the literature. CONCLUSION: Considering the paucity of information in the ophthalmic literature, this article explores the role of the ophthalmologist in diagnosing this rare entity.

Abnormalities, Multiple↗
PubMed1987

The Gardner syndrome.

The Gardner syndrome is characterized by polyposis coli and multiple hard and soft tissue tumors. A case of a 17-year-old male is presented who complained of painless and hard swellings on the angle of the mandible bilateraly. The patient presented the original triad of lesions of the Gardner syndrome. On the panoramic X-ray, characteristic radio-opaque lesions (exostoses and enostoses) on the jaws were shown and a compound odontoma was detected in the left side of the mandible.

Adolescent↗
PubMedDate not supplied

Anterior tibiotalar impingement associated with chronic ankle instability.

The authors describe the surgical treatment of 13 cases of chronic ankle instability and concomitant anterior bony impingement of the ankle in professional and recreational athletes. All patients had symptoms and signs of lateral instability and a painful block to dorsiflexion. Two patients presented with recurrence of impingement after a previous debridement alone without an ankle stabilization. The anterior osteophytes were debrided arthroscopically and a Brostrom-Gould open stabilization was performed. After a mean follow-up period of 12 months (range 4-23 months), all 13 patients had mechanically and functionally stable ankles. The mean improvement in range of dorsiflexion was 12.4 degrees and all but one had improvement with respect to a subjective and functional outcome assessment. There have been no recurrences of impingement to date. These results suggest that ankle stabilization performed in conjunction with debridement of osteophytes may reduce the recurrence of exostoses as well as improving the outcome.

Adult↗
PubMedDate not supplied

Subungual exostosis.

The author describes subungual exostoses as well as their differential diagnoses. Clinical and radiologic features are illustrated. Surgical excision is recommended, following partial toenail avulsion, in the majority of symptomatic cases.

Adult↗
PubMed1999

New perspectives on the molecular basis of hereditary bone tumours.

Bone development is a highly regulated process sensitive to a wide variety of hormones, inflammatory mediators and growth factors. One of the most common hereditary skeletal dysplasias, hereditary multiple exostoses (HME), is an autosomal dominant disorder characterized by skeletal malformations that manifest as bony, benign tumours near the end of long bones. HME is usually caused by defects in either one of two genes, EXT1 and EXT2, which encode enzymes that catalyse the biosynthesis of heparan sulphate, an important component of the extracellular matrix. Thus, HME-linked bone tumours, like many other skeletal dysplasias, probably result from disruptions in cell surface architecture. However, despite the recent success in unravelling functions for several members of the EXT gene family, significant challenges remain before this knowledge can be used to develop new approaches for the diagnosis and treatment of disease.

Aged↗
PubMed2004

Fibro-osseous lesion of the external auditory canal: a case report.

The aim of this study was to differentiate a novel type of benign circumscribed bone lesion of the external auditory canal from lesions described previously, such as exostoses and osteomas. We present a 43-year-old male patient who suffered from ear discharge of the right ear. Local findings showed bloody discharge from his right auditory canal, which was occupied by a mass-like tissue. Computerized tomography (CT) carried out before resection of the lesion disclosed the absence of a bony connection to the underlying structures. The pathologic findings showed lesions consisting of an osteoma-like bone formation with sparse osteoblastic areas. Mature lamellar bone and bone marrow containing adipose tissue were also noted. There was no evidence of a relationship to the cartilaginous tissue or bony structures of the external auditory canal. Therefore, we present this rare case and review the reported literature in which clinical, CT, surgical, and pathologic findings suggest that this lesion was unlike those previously known, and may be related to ossifying reactions in other parts of the organism.

Adult↗
PubMed1988

Exostosis of the internal auditory canal.

Although exostoses of the external auditory canal are not uncommon, those of the internal canal are extremely rare. One of these is described occurring in a 53-year-old man whose rapidly progressive hearing loss was without any associated abnormality.

Exostoses↗
PubMed1994

Surgical emphysema: a novel complication of aural exostosis surgery.

We present the case of a 40-year-old male Caucasian patient who developed surgical emphysema of the neck five weeks after surgery for exostoses of the external auditory canal. Imaging of the temporal bone demonstrated that the surgery had resulted in entry into the temporomandibular joint. A mechanism is proposed for this novel complication.

Adult↗
PubMed1999

Molecular and clinical examination of an Italian DEFECT11 family.

The DEFECT11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study, we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT11 syndrome.

Adult↗
PubMed2004

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

The combination of multiple exostoses (EXT) and enlarged parietal foramina (foramina parietalia permagna, FPP) represent the main features of the proximal 11p deletion syndrome (P11pDS), a contiguous gene syndrome (MIM 601224) caused by an interstitial deletion on the short arm of chromosome 11. Here we present clinical aspects of two new P11pDS patients and the clinical follow-up of one patient reported in the original paper describing this syndrome. Recognised clinical signs include EXT, FPP, mental retardation, facial asymmetry, asymmetric calcification of coronary sutures, defective vision (severe myopia, nystagmus, strabismus), skeletal anomalies (small hands and feet, tapering fingers), heart defect, and anal stenosis. In addition fluorescence in situ hybridisation and molecular analysis were performed to gain further insight in potential candidate genes involved in P11pDS.

Abnormalities, Multiple↗