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PubMed1994

Regional Proteus syndrome and somatic mosaicism.

We report on a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. This lends further support to the hypothesis of somatic mosaicism as a cause of Proteus syndrome. Because mosaic distribution of lesions is variable in extent, criteria for the diagnosis of Proteus syndrome should be loose rather than overly rigid even though patients with limited regional involvement may be particularly difficult to diagnose.

Child↗
PubMed1980

Marked bone spur formation in a burn amputee patient.

This report presents an unusual case of a lower extremity burn amputee with a marked degree of bone spur formation. A 17-year-old man suffered 56% body surface area mixed-depth electrical and flame burns, necessitating left below knee amputation. He was admitted to a rehabilitation center 3 months postinjury for pylon fitting and gait training. Difficulty was encountered with poor skin tolerance to weight bearing because of the prominent distal bony margins in the stump. X-rays of the stump revealed a marked degree of linear bone spur formation, extending longitudinally from the distal tibia and fibula with multiple cross-bridges. The spur formation was considered an extensive bony exostosis of unclear etiology. Surgical revision was elected to obtain a stump more suitable for prosthetic tolerance, and to avoid a bulky "bypass" prosthesis. This stump revision enabled the patient to attain independent functional prosthetic ambulation. Although there is evidence of some recurrence of bone spur formation, this remains limited and asymptomatic.

Adolescent↗
PubMed1985

Bursa formation in secondary chondrosarcoma with intrabursal chondrosarcomatosis.

Osteocartilaginous exostoses (osteochondromata) are rather common bone tumors. Although most are straightforward lesions, one may occasionally encounter one of a number of well-recognized complications. In the current case, secondary malignant transformation and bursal sac formation were present. Additionally, numerous malignant chondroid nodules were shed into the attached bursa, giving rise to a large soft tissue mass, a situation which we feel is both remarkable and, to our knowledge, unique.

Aged↗
PubMed1986

Minimal incision techniques for digital deformities.

We have presented basic minimal incision approaches to the more common digital deformities. We feel that with proper evaluation of the deformity and the patient, minimal incision surgery techniques give excellent long-term results with several advantages. These advantages include: Less discomfort due to less surgical dissection. Less need for internal fixation by careful use of compression dressings in the immediate postoperative period along with early ambulation. Less disability. Compression dressings allow immediate ambulation in normal footgear. In most instances, the patient is able to return to work sooner and with less discomfort. Better patient acceptance. Procedures may be performed under local anesthesia in the office environment and the patient may usually return to work in normal footgear within 1 to 3 days. Cost containment. Not all digital deformities may be addressed through a minimal incision approach. Internal fixation, multiple procedures with special postoperative shoes, syndactylisms, fusions, transpositional osteotomies, and skin plasties may be necessary in more severe conditions. However, it is equally important to point out that not all digital deformities must be approached in the "traditional" manner, employing large incisions with deep structure dissection, retraction, and visualization. It is up to the podiatric surgeon to develop his skills, and, after carefully evaluating the abnormality, the patient, and his goals, to perform the surgical procedure that will result in the best long-term results with the minimal amount of discomfort, disability, and cost to the patient.

Callosities↗
PubMed1990

Differences between florid osseous dysplasia and chronic diffuse sclerosing osteomyelitis.

Florid osseous dysplasia (FOD) is confused in the literature with chronic diffuse sclerosing osteomyelitis. Two cases of each condition are presented to demonstrate the differences between them. In FOD, there are multiple lobulated sclerotic masses in several quadrants of the jaws, usually in black females. In some cases, the sclerotic masses are exposed to the oral cavity, resulting in a secondary osteomyelitis. Periapical cemental dysplasia is often found in association with FOD. Chronic diffuse sclerosing osteomyelitis is a primary inflammatory condition of the mandible. Patients have cyclic episodes of unilateral pain and swelling. The affected region of the mandible exhibits a diffuse opacity with poorly defined borders. Although women are affected more often than men, black persons are not particularly susceptible.

Adult↗
PubMed1996

Trichorhinophalangeal syndrome type III.

Trichorhinophalangeal syndrome (TRPS) type III is a newly defined clinical entity. This symptom complex is inherited as an autosomal dominant trait and clinically characterized by growth retardation, craniofacial abnormalities, severe brachydactyly and sparse hair. In addition, absence of mental retardation and cartilaginous exostoses are required for the diagnosis of TRPS III. To further delineate this newly recognized entity, we report on a patient from a Turkish family segregating TRPS III in 7 family members. The patient had a very short stature (147 cm, < 3rd standard deviation), a thin upper lip and a prominent lower lip, a pear-shaped nose, stubby fingers and toes with cone-shaped epiphyses and sparse scalp hair. Scanning electron microscopy findings and results of energy-dispersive X-ray microanalysis are presented in such a patient for the first time.

Abnormalities, Multiple↗
PubMed2005

The utility of panoramic radiography in temporomandibular joint assessment.

OBJECTIVES: Panoramic radiography was used to determine (1) intrarater and inter-rater reliability in assessing temporomandibular joint (TMJ) condylar morphology; (2) alteration in condylar shape in patients with temporomandibular disorders (TMD) and controls when matched by age, gender, and state of dentition; and (3) prevalence of condylar abnormalities in individuals with and without TMD. METHODS: One hundred panoramic radiographs were randomly selected from a hospital clinic (45 TMD and 55 non-TMD patients). The images were cropped to include only the temporomandibular apparatus and were independently evaluated by three examiners without knowledge of the patient's clinical status. Multiple statistical tests were performed to evaluate the accumulated data. RESULTS: Intrarater reliability demonstrated substantial agreement, while inter-rater reliability was fair. There was no difference in condylar morphology between patient groups, but mild condylar change was prevalent in all age groups, regardless of TMD status. CONCLUSIONS: Morphological condylar abnormalities are present on panoramic images in all adult age ranges, regardless of status of the dentition or presence of TMD. Condylar shape alone is not an indicator of TMD, and minor condylar discrepancies may have no significance in TMD.

Adolescent↗
PubMed1984

Isotretinoin therapy is associated with early skeletal radiographic changes.

Eight patients with disorders of keratinization (six with ichthyosis, one with Darier's disease, and one with palmar-plantar keratoderma) were treated with isotretinoin for 9 months (1 patient) to 1 year (7 patients). The patients ranged from 5 to 26 years of age. The average isotretinoin dose was 2 mg/kg/day (range, 1.0-2.9 mg/kg/day). Radiographic skeletal surveys were performed prior to therapy, and after 6 months and 1 year of therapy. After 1 year of isotretinoin treatment, six of the eight patients had small but unequivocal skeletal hyperostoses. Five of the patients had multiple hyperostoses. While only two patients were judged to have hyperostoses after 6 months of isotretinoin therapy during prospective evaluation, retrospective comparison with the radiographs obtained after 1 year revealed skeletal hyperostoses after 6 months of treatment in an additional three patients. Between 6 months and 1 year of therapy, some of the hyperostoses remained unchanged while others had progressed. In three patients, hyperostoses were seen at 12 months that were not detectable at 6 months. Based on this prospective study of skeletal changes during isotretinoin therapy, we recommend that patients taking high doses of isotretinoin for long periods be monitored radiographically.

Adolescent↗
PubMed1991

DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the proteus syndrome.

Syndromes with localized or segmental abnormalities have been proposed to be the result of a somatic mutation leading to the presence of somatic mosaicism in the tissue. The Proteus syndrome, with its hemihypertrophy, macrodactyly and exostoses, has features which would indicate that the phenotype results from such events. The success of utilizing DNA fingerprint probes to detect somatic mutations in cancer raised the possibility that a similar approach might be successful in an investigation of two patients with the Proteus syndrome. Single band differences were detected with the probe 33.6 in a pair of monozygotic twins discordant for Proteus and in a comparison of tissue from normal and affected areas in another patient. These findings would appear to confirm the hypothesis that the Proteus syndrome results from a somatic mutation. Furthermore, the results indicate that DNA fingerprinting may offer a valuable technique for identifying probes for investigations of similar syndromes.

Abnormalities, Multiple↗
PubMed1995

[The Achilles tendon in sports].

Achillodynia is a generic term for various types of ailments in the region of the Achilles tendon. For adequate therapy a specific diagnosis is absolutely necessary. Besides an accurate anamnesis and the right choice of terrain and shoes, as well as a clinical examination where one has to specifically keep an eye on muscular imbalance between the gastrocnemius and the soleus muscle and disorders of the ligamentous control of the calcaneus caused by fibular ligament instabilities, a procedure such as radiology, ultrasound, and MR imaging is inevitable. From the differential diagnosis point of view a distinction between peritendinitis, mechanically triggered bursitis (calcaneal and subachilles), bony alterations of the calcaneus (calcaneus spur, Haglund exostosis persistent nucleus of the apophysis, fatigue fracture, etc) and a partial or total rupture (a one-time occurrence or multiple occurrences) has to be made. Occasionally, entrapment of the ramus calcaneus of the sural nerve causes calcaneal pain. If clinically not confirmed, lumbar pain ought to be taken into consideration (discopathy, Bechterew disease, etc). Metabolic disorders (especially uric acid) and underlying rheumatic diseases must be excluded. The therapy of achillodynia includes local and peroral antiphlogistic medication as a concomitant measure. More important is the causal influence of etiological factors, i.e., the correction of muscular imbalance, ensuring control of the calcaneus through bandages and adjustment of sport shoes, changes in training buildup and exercise intensity, just to mention a few. If necessary, surgically splitting the peritendineum, sanitation of a partial rupture, bursectomy and removal of mechanically obstructive exostosis must be done.

Achilles Tendon↗
PubMedDate not supplied

The prevalence of radiologic TMJ findings and self-reported orofacial pain in a patient group wearing implant dentures.

PURPOSE: This study had a twofold aim: first, to gather knowledge about the prevalence of radiologic signs of temporomandibular joint osteoarthritis (TMJ-OA) and possible risk factors in patients who had worn an implant prosthesis for between 2.5 and 10 years; and second, to investigate the diagnostic value of radiologic TMJ-OA signs for orofacial pain in a non-temporomandibular disorders group. MATERIALS AND METHODS: Two hundred thirty patients (134 women, 96 men) answered a questionnaire regarding orofacial pain. In mean, they were 64 years old and wore 98 fixed and 132 removable implant dentures. The effect of age, gender, state of the dentition, time span after prosthesis placement, parafunction, and TMJ sounds on radiologic TMJ-OA signs was estimated through multiple logistic regression. The predictive values were calculated to assess the diagnostic value of severe TMJ-OA signs to predict orofacial pain. RESULTS: Prevalence of TMJ-OA signs was 70% for flattening, 23% for osteophytes, and 24% for erosion. Some effect on radiologic TMJ-OA signs of gender and state of the dentition was found. The predictive values for orofacial pain from radiologic TMJ-OA ranged from 0.22 to 0.81. CONCLUSION: Radiologic signs of TMJ-OA were common findings. The study gave no indication that long-term wearing of an implant prosthesis has a negative effect on TMJ-OA. It was not possible to predict orofacial pain from radiologic TMJ-OA signs.

Adult↗
PubMed1979

External fixation of unstable pelvic fractures.

The Hoffmann external fixator was used to stabilize unstable pelvic fractures in 56 patients with multiple injuries. It was applied under general anaesthesia and the dislocated pelvis reduced and secured with a single tie bar. In 16 cases residual dislocation of less than 1.5 cm was noted after the reduction and the reduced position was maintained in 48 out of 51 cases, a minor redislocation occurred in the remaining 3 patients. Few complications could be attributed to the method, infection was noted in one patient, the iliac crest was fractured in one case and an exostosis of the iliac crest occurred in one youth. Forty-three patients were symptom free with regard to the pelvis at the time of review whereas 5 patients had residual pain and 3 diffuse symptoms. The technique of application is simple but requires two surgeons at the time of reduction and fixation of the pelvis.

Adolescent↗
PubMed1996

Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history.

Patients with fibrodysplasia (myositis) ossificans progressiva (FOP) (n = 28) were studied for up to 24 years. All had characteristic short big toes potentially recognizable at birth; there were radiographic changes in the toes, thumbs, cervical spine and metaphyses of the long bones, including exostoses. Ossification in the large skeletal muscles began from birth to 16 years (mean age 4.6 years) initially in 25 patients in the neck and upper spinal muscles, and later around the hips, major joints and jaw. The rate and extent of disability was unrelated to the time of onset. There was no evidence that any form of treatment produced consistent benefit. Despite the unique combination of skeletal abnormalities and ectopic ossification, the first diagnosis in patients with FOP was often wrong and usually delayed after ectopic ossification began (mean 2.7 years, range 0-14). Except where presentation was unusual, such as progressive stiffness, this delay was mainly due to failure to recognize the significance of the abnormal toes. The most frequent erroneous histological diagnoses were soft tissue sarcoma or fibromatosis. This series emphasizes the usually incorrect initial diagnosis, the misinterpretation of the histology, the unpredictable prognosis and the failure of current treatment. Despite its extreme rarity, there is a need for wider knowledge of this condition both to avoid clinical errors and to stimulate research.

Abnormalities, Multiple↗
PubMed2006

Osteoarthritis of the knee: association between clinical features and MR imaging findings.

PURPOSE: To prospectively evaluate the association between clinical features and structural abnormalities found at magnetic resonance (MR) imaging in patients with osteoarthritis (OA) of the knee. MATERIALS AND METHODS: The study was approved by the institutional medical ethics review board. Written informed consent was obtained from each patient. MR images of the knee were obtained from 205 (42 [20%] men, 163 [80%] women; median age, 60 years; range, 43-77 years) patients in whom symptomatic OA at multiple joint sites was diagnosed. MR images were analyzed for various abnormalities of OA. All patients were interviewed concerning pain and stiffness in the knee that was imaged. Odds ratios (ORs) with 99% confidence intervals (CIs) were used to determine the association between the imaging findings and clinical features of OA. RESULTS: A large joint effusion was associated with pain (OR, 9.99; 99% CI: 1.28, 149) and stiffness (OR, 4.67; 99% CI: 1.26, 26.1). The presence of an osteophyte in the patellofemoral compartment (OR, 2.25; 99% CI: 1.06, 4.77) was associated with pain. All other imaging findings, including focal or diffuse cartilaginous abnormalities, subchondral cysts, bone marrow edema, subluxation of the meniscus, meniscal tears, or Baker cysts, were not associated with symptoms. CONCLUSION: Findings of this study indicate that only two associations exist between clinical symptoms and structural findings found on MR images in patients with OA of the knee.

Adult↗
PubMed1979

[Growth disturbance of the forearm in multiple exostosis and dyschondroplasia (author's transl)].

Multiple exostosis and Dyschondroplasia (Ollier's disease) are two Osteochondrodysplasia with abnormal cartilagenous growth which hinder growth of the long bones especially. Among other locations, these diseases do not affect the forearms symetrically. The ulnar bone is more often and more severely affected which results in a progressive dislocation of the forearm. The radial shaft bands while the hand incurves medially. The radial head can even dislocate completely. All the deformities of the forearm create a severe handicap. The authors report their surgical experience. Preventive management is the ideal solution and should be carried out before the onset of a complete dislocation (especially before the dislocation of the radial head). Correction should also take growth into consideration. Logically, the shortest bone (the ulnar) should be lengthened and straightened. Since it is not feasible to reasonably correct all deformities entirely by the ulnar lengthening, it is necessary to not only straighten but also to shorten the radial bone. Only regular surveillance of the growth abnormalities throughout childhood can allow a precise evaluation of the required correction necessary at the time of surgery which should be a definite one stage procedure.

Bone Lengthening↗
PubMed2005

Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes.

An exostosis or osteochondroma is an aberrant bony growth occurring next to the growth plate either as an isolated growth abnormality or as part of the Hereditary Multiple Exostosis (HME) syndrome. Mutations in either exostosin 1 (EXT1) or exostosin 2 (EXT2) gene cause the HME syndrome and also some isolated osteochondromas. The EXT1 and EXT2 genes are glycosyltransferases that function as hetero-oligomers in the Golgi to add repeating glycosaminoglycans (GAGs) to heparan sulfate (HS) chains. Previously, we demonstrated that HS is markedly diminished in the exostosis cartilage cap and that the HS proteoglycan, perlecan, has an abnormal distribution in these caps. The present studies were undertaken to evaluate which chondrocyte-specific functions are associated with diminished HS synthesis in human chondrocytes harboring either EXT1 or EXT2 mutations. Systematic evaluation of exostosis cartilage caps and chondrocytes, both in vitro and in vivo, suggests that chondrocyte-specific cell functions account for diminished HS levels. In addition, we provide evidence that perichondrial cells give rise to chondrocytes that clonally expand and develop into an exostosis. Undifferentiated EXT chondrocytes synthesized amounts of HS similar to control chondrocytes; however, EXT chondrocytes displayed very poor survival in vitro under conditions that promote normal chondrocyte differentiation with high efficiency. Collectively, these observations suggest that loss of one copy of either the EXT1 or EXT2 gene product compromises the perichondrial chondrocytes' ability to differentiate normally and to survive in a differentiated state in vitro. In vivo, these compromised responses may lead to abnormal chondrocyte growth, perhaps from a perichondrial stem cell reserve.

Cell Differentiation↗