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PubMed2003

[Clinicopathologic analysis of 154 cases of tumors and tumor-like lesions in the bones of hands and feet].

OBJECTIVE: To study the clinical and pathologic features of tumors and tumor-like lesions in the bones of hands and feet. METHODS: Clinical, X-ray and pathologic features of 154 cases of tumors and tumor-like lesions in the bones of hands and feet between 1991 and 2002 were investigated. RESULTS: In the bones of hands and feet the frequency and distribution of many lesions were distinctive when compared to those of other skeletal sites. Cartilaginous lesions were most common (60%), and 72% of them were enchondromas. Enchondromas were most often situated in the second to fifth phalanges and metacarpal bones. Chondroblastomas most frequently involved the irregular bones (such as calcaneus, talus and osnaviculare) of the feet. Whereas the occurance of osteochondromas in the bones of the hands and feet was lower than in the long bones. Most "osteochondromas" of the phalanges were subungual exostoses. A group of reactive or reparative lesions, which are related to trauma, such as subungual exostosis, giant cell reparative granuloma, florid reactive periostitis and bizarre parosteal osteochondromatous proliferations typically occurred in the bones of the hands and feet, but these tumor-like lesions were often misdiagnosted. Another feature of lesions in the bones of the hands and feet was that there were much more benign than malignant lesions (21:1), and that chondrosarcomas were common in malignancies. The diagnostic criteria for benign and malignant cartilaginous tumors in the bones of hands and feet were different from those in long bones and flat bones. CONCLUSIONS: Bone tumors of the hands and feet are different from that of long bones, flat bones and axial bones. Because the hands and feet are frequently exposed to trauma, reactive and reparative lesions often occur in these sites. These tumor-like lesions may simulate benign and malignant neoplasia. Knowledge of different types of lesions which commonly affect these sites is of benefit in assessing lesions of the bones of hands and feet.

Bone Neoplasms↗
PubMed1992

Dorsomedial articular fracture of the proximal aspect of the third metacarpal bone in standardbred racehorses: seven cases (1978-1990).

Seven Standardbred horses, all pacers, with a mean age of 2.9 years (range, 2 to 4 years), had dorsomedial articular fracture of the proximal aspect of the third metacarpal bone. Fracture caused acute, unilateral, severe lameness after training or racing. Lameness was abolished by midcarpal joint anesthesia in 4 horses. Six horses had a palpable bony swelling, which caused signs of pain. Radiography revealed a nondisplaced, articular, oblique fracture extending distad toward the dorsomedial cortex for a mean distance of 28 mm (range, 15 to 40 mm). In all horses, chronic periosteal proliferative changes, seen near the distal aspect of the fracture, corresponded to palpable bony exostoses and were associated with the medial attachment of the extensor carpi radialis tendon. In 1 horse, internal fixation followed by a 6-month rest resulted in a successful outcome. All other horses were given 3 months' rest without surgery and were not lame. Five horses raced successfully and lowered the lifetime race records, 1 horse was sound and trained successfully, but died of colic, and 1 horse was not lame in early training.

Animals↗
PubMedDate not supplied

Musculoskeletal manifestations of Proteus syndrome: report of two cases with literature review.

Proteus syndrome is a recently described hamartomatous condition characterized by macrodactyly, hemihypertrophy, subcutaneous (s.c.) tumors, epidermal nevi, and skull anomalies. Two new cases are described to illustrate the diagnostic features and the orthopedic problems associated with this rare syndrome. Review of available literature shows that 61 patients with proteus syndrome commonly develop macrodactyly, limb overgrowth, spinal deformity, hip dysplasia, genu valgum, exostoses, joint contractures, and hindfoot deformities.

Adolescent↗
PubMedDate not supplied

[Temporal bone CT in the diagnosis of acquired diseases of the external auditory canal].

CT was used to examine 50 patients (100 temporal bones) aged 10 days to 60 years who had no signs of lesion of the external auditory canal (EAC) and 23 patients (27 temporal bones) aged 13 to 65 years who had clinical manifestations of acquired stenosis or obturation of the EAC. Polypositional CT of the temporal bone is the most informative technique of visualization of the osseous part of the EAC, at the same time the anterior and posterior EAC walls were evaluated in the axial projection and the upper and lower EAC walls were assessed in the coronary projection. According to CT data, formation of the osseous part of the EAC occurs within the first 7 years of a child's life. In the presence of EAC changes, CT may assess their pattern (a soft tissue or osseous one), their magnitude and location along the walls of the canal, the tympanic membrane, and other structures of the temporal bone. CT reveals the causes of acquired EAC obturation, stenosis, and atresia: osteocartilaginous exostoses, osteomas, polyps of the EAC, tumors of the temporal bone, as well as obturative keratosis and posttraumatic stenosis of the EAC. The detected EAC changes determine further management policy in a patient.

Adolescent↗
PubMed2004

Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?

Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?: We report on two sibs, a boy and a girl, with syndromic brachydactyly type E. Parents were first cousins. Facial dysmorphia was characterized by a flat occiput, a large forehead, hypertelorism, a long triangular nose, an everted lower lip, downslanting palpebral fissures and strabismus. They had marked shortening of the third, fourth and fifth fingers and of the third, fourth, and fifth toes. IQ was 16 in the boy, 63 in the girl. In both sibs ophtalmologic examination showed strabismus, absence of cataract and normal fundus and radiological findings disclosed increased bone density involving the skull, the vertebrae and the corticalis of the long bones. Neither ectopic calcifications, nor exostosic, nor osteomalacia, and nor osteotis fibrosa cystica were present. Investigations revealed that plasma calcium, phosphate, vitamine D, parathyroid hormone (PTH), response to exogenous PTH, and Gs activity were normal as well as renal and thyroid function. Molecular genetic studies failed to identify mutations in the GNAS 1 gene, in the PTH receptor gene and in the HOX D13 gene. Analysis of 2q showed that there was no deletion 2q37. Other known syndromes with brachydactyly type E and mental retardation were excluded. In conclusion we suggest that these two sibs with a combination of brachydactyly, mental retardation and increased bone density have a specific autosomal recessive syndrome.

Adult↗
PubMed1992

[A case of Weismann-Netter and Stuhl toxopachyosteosis with new bone sites].

A case of Weismann-Netter-Stuhl toxopachyosteosis in a 63-year-old man is reported. Bone deformities had been present since the age of 18 months. Tibio-fibular dysmorphism was severe. Radiological evaluation revealed other lesions encountered more rarely: bilateral femoral incurvature and exostoses, bilateral coxa vara, radio-ulnar incurvature and flattening of the last ribs. Two other previously undescribed lesions were seen in this patient; bradymetacarpism of the last four rays of the left hand and dysmorphic lengthening of the left patella. This case illustrates the widespread nature and unusual extent of bone lesions in the context of toxopachyosteosis.

Bone Diseases, Developmental↗
PubMedDate not supplied

Coronoid hyperplasia. A case report.

Coronoid hyperplasia is a rare condition which is macroscopically characterized by an increase in the dimensions of the coronoid process resulting from an abnormal bony elongation of histologically normal bone. Unilateral cases are more frequent than bilateral ones and can recognize a number of etiological factors, such as exostoses, osteochondroma, traumatic events, inflammatory reactions, neoplasia and manifestations secondary to other pathologies. Etiopathogenesis of bilateral forms has not yet been clarified: in the literature hints to both developmental and endocrine abnormalities are present, and a familiar pattern of inheritance has been evidenced. The poor specificity of signs and symptoms associated with coronoid hyperplasia, which are similar to those of other more frequent forms of temporomandibular disorders, present some problems of differential diagnosis. An accurate assessment must be based on a clinical and anamnestical approach aiming at the identification of pathognomonic clinical symptoms. Considering its limits (such as the possible presence of artefacts and image distortions), orthopantomography has a poor diagnostic usefulness. In this case, magnetic resonance (MR) allowed to evaluate disk-condyle relationship, but it could be also useful to evaluate post-operative complications. In the case of coronoid hyperplasia, the computed tomography (CT) is fundamental for a correct differential diagnosis. CT also allows surgical planning due to its accuracy to detect coronoid process volume and morphology. The present case report is an example of the need for a correct differential diagnosis between the different types of temporomandibular disorders, and it also lends support to the importance of requesting modern imaging techniques during the diagnostic process of the rare or complex cases.

Adult↗
PubMed2006

[Proteus syndrome with cerebral vascular malformations].

INTRODUCTION: Proteus syndrome is a congenital hamartomatous dysplasia. This sporadic disorder involves the skeletal system, soft tissues, skin and vascular system. The most likely pathogenesis involves somatic mosaicism. Main manifestations included soft-tissue and epidermal nevi, partial gigantism, hemihypertrophy, exostoses, lipomas and vascular anomalies. The most common brain abnormalities are hemimegencephaly and migrational disorders. We present a case of Proteus syndrome with cerebral vascular anomalies which are not described previously. CLINICAL CASE: Our patient is a 61 year-old male who has hypertrophy of the four limbs, macrodactyly and hypertrophy of chest and abdomen asymmetric with mild facial asymmetry. Prominent and abundant of the four extremities and trunk, also asymmetric. Vascular tumors in the skin of trunk and left limb. Cerebral MRI shows venous angiomas and multiple cavernous malformations. CONCLUSION: Clinical diagnostic criteria of Proteus syndrome are documented in our patient. He also has brain vascular malformations which are not described previously in the literature. We consider that both findings are not a product of causality due to the high prevalence of systemic vascular hamartomatous malformations in these patients. We hypothesize that a single mutation, probably involving genes in relation with apoptotic control will be responsible of Proteus syndrome and cerebral vascular anomalies in our patient, due to a defect of angiogenesis.

Brain↗
PubMed1991

[Occipital horn syndrome (Ehlers-Danlos syndrome type IX) with severe psychomotor retardation and muscle atrophy--a first Japanese case].

Occipital horn syndrome (OHS; Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes disease. We report a case of OHS in a 34-year-old male, which we believe to be the first Japanese case. He had been noted to have psychomotor retardation since his early childhood and now presents severe psychomotor retardation and muscle atrophy. He shows characteristic facial appearance, hyperelasticity of the skin, joint subluxation and generalized muscular atrophy. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiologic imagings showed occipital exostoses and bladder diverticula. The activity of lysyl oxidase, a copper-dependent enzyme involved in cross-link formation in collagen, was decreased in a skin-biopsied specimen. Electronmicroscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of the concentric laminated bodies in the subsarcolemmal regions.

Adult↗
PubMed2006

[Pain in edentulous patients].

In daily social life, orofacial pain is strongly associated with teeth. However, edentulousness is no lifetime guarantee of being pain-free in the orofacial region. Common oral pains in edentulous people are caused by denture misfits or occlusal errors, by alveolar ridge atrophy, by (sharp) exostoses, and by non-denture-related mucosal lesions. Less common or hard to diagnose pains are caused by burning mouth syndrome, toxic or allergic reactions, nerve injuries, mucosal or skin grafts, and ischaemic heart disease.

Dentures↗
PubMed1991

Proteus syndrome in 7 patients: clinical and genetic considerations.

The Proteus syndrome is a congenital hamartomatous disorder delineated in 1983. Because of its polymorphic appearance, the syndrome was named after the greek god Proteus whose name means much less than the polymorphous much greater than. Major clinical findings include hemi hypertrophy, macrodactyly, exostoses, scoliosis, epidermal nevi, haemangiomas, deeply rugated soles of the feet and a variety of deep and subcutaneous masses. We report on 7 new cases of Proteus syndrome. All reported cases have been sporadic. Therefore this syndrome could be due to the action of a dominant lethal gene surviving by mosaicism.

Adult↗
PubMedDate not supplied

Metachondromatosis and avascular necrosis of the femoral head: a radiographic and histologic correlation.

We report the case histories, radiographic and computed tomographic studies, and histologic findings of two children with metachondromatosis who developed avascular necrosis (AVN) of the femoral ossific nucleus. The first was a 9-year-old boy with involvement of both femoral heads; the second was an 8-year-old girl with involvement of her right femoral head. The changes were associated with either exostoses or enchondromalike lesions of the femoral neck. Interference with the integrity of the lateral epiphyseal vessels by these lesions would explain the avascular changes that occurred. The findings in these cases and other reports associating AVN with skeletal dysplasia should encourage treating physicians to analyze carefully a sudden increase in hip pain or rapid radiographic development of femoral head collapse in a child with a skeletal dysplasia. Recognition of true AVN, in contrast to the gradual evolution of head shape change in typical skeletal dysplasia, may change treatment recommendations and prognosis.

Child↗
PubMed1990

[Hyperplasia of the coronoid processes of the mandible--case-history].

Hyperplasia of the coronoid processes of the mandible in a 36-year-old man was associated, in addition to difficult opening of the mouth, with noises of apparently articular origin. The noise was due to the shifting of the coronoid processes along the inner surfaces of the temporal processes of the facial bones. On the X-ray picture also the elongated styloid processes were striking as well as symmetrial exostoses at the lower borderline of the mandible and condylar processes deformed without any apparent cause.

Adult↗
PubMed1990

[Transposition of masseter muscle insertion and its influence on anatomical musculo-skeletal changes in the adult rabbit].

Unilateral surgical transposition of the masseter muscle from the masseteric fossa to the central area of the mandibular body below the molar teeth was performed in ten adult rabbits. Six months later the animals were sacrificed, the masseter muscles were dissected and then removed to be fully dried and weighed; the skull was cleaned for anatomical examination of the mandible and the teeth. It was noticed that the transposed muscles were firmly attached and functionally adapted, but underwent a drastic reduction of their weight. The smooth surface of the mandibular body which became activated by the new muscular pull was now rough and irregular due to osseous neoformation. The original area of attachment (masseteric fossa) was remodelled not only regressively but also by bone apposition (exostoses) in some sites. The dental arches kept normal, except for alveolar bone resorption next to the first molar in two animals and accentuated sagittal deviation in another one.

Alveolar Bone Loss↗
PubMedDate not supplied

Corrective cosmetic supramalleolar osteotomy for valgus deformity of the ankle joint: a report of two cases.

Valgus deformity of the ankle joint can cause pain in walking and a significant gait disturbance because of the altered ankle mechanics and the secondary planovalgus deformity of the foot. A technique of supramalleolar osteotomy that is cosmetically better than a closing wedge osteotomy for correction of this condition is described in two patients with hereditary multiple exostoses. The osteotomy is inherently stable, and minimal or no internal fixation is needed.

Ankle↗
PubMed1990

Retrocalcaneal problems.

The majority of retrocalcaneal problems may be treated conservatively, using a biomechanical approach with appropriate shoe modification, padding, orthoses, and injection therapy. When appropriate indications are present, calcaneal osteotomies should be considered, despite less indication for these procedures than for simple resection of the retrocalcaneal exostoses.

Biomechanical Phenomena↗
PubMed1990

[Referral pattern, diagnoses and occurrence of short muscles in children and adolescents in an orthopedic specialist practice].

The patterns of referral for 600 consecutive children and adolescents under the age of 17 years were analysed and the symptoms were compared with the diagnoses. 40% were referred because of foot problems, 20% had mobility problems and 20% had pain in the back or extremities. Out of the 240 patients with foot problems, these could be confirmed in 44%. 30% had merely short muscles and 7% had, in addition, spasticity. 70% out of the 110 patients referred on account of flat foot had too short achilles tendons. 50% out of the 600 patients referred had short achilles tendons and/or hamstring muscles. In 20%, the short muscles alone could explain the symptoms experienced by the patients. Short heel tendons are found with broad fore-feet, cavus and valgus feet, loose subtaloid joints, heel exostoses, pain in the heel and in the calf. Short hamstrings result in a shuffling gait, high-riding patellae with periodic pain, pain on the posterior aspect of the thigh and a straight transition in the thoraco-lumbar region with subsequent Scheuermann's disease. The length of the muscles should, therefore, be investigated. If they are too short, they should be stretched for one minute every twelfth hour to obtain optimal elasticity and length.

Achilles Tendon↗
PubMed1985

[Heterogeneity of binding proteins of proteoglycan aggregates from human hyaline cartilage under normal conditions and in systemic bone dysplasias].

Using SDS electrophoresis and subsequent densitometry, the link proteins (LP) of proteoglycan aggregates of the knee joint hyaline cartilage, rib and/or the iliac crest cartilage were investigated. Both the control and experimental samples (n = 9 and n = 16, respectively) contained three LP with Mr 48.0 (LP-1), 44.0 (LP-2) and 41.5 KD (LP-3); however, their ratio varied within very broad limits. Low molecular weight forms of LP were also observed in the infundibulum-like deformation of the thorax. The considerable decrease of LP-3 and the elevated content of LP-2 were observed in lethal osteochondrodysplasias, which probably reflects the genetically determined disorder of limb morphogenesis, eventually resulting in the maintenance of embryonic ratio of LP. Almost all the preparations contained a protein with Mr 52 KD that was previously unknown for the LP system. The content of this protein was the highest in the exostose cartilage and in newborns. Possible mechanisms of LP heterogeneity and the significance of this parameter for the regulation of chondrogenesis and realization of certain physical properties of cartilages from different parts of the skeleton are discussed.

Bone Diseases, Developmental↗