Resultate und ausser- gewöhnliche Komplikationen der Chirurgie der Gehörgangexostosen [Results and extraordinary complications of surgery for exostoses of the external auditory canal].

We present a retrospective study on 22 operations of exostosis of the external auditory canal in 20 patients. 8 patients were passionated by water sports. The most frequent indication for surgery (13 operations) was recurrent external otitis or ceruminal obstruction. In 7 cases the need for a wider access to the middle ear indicated surgery. Surgery was usually performed as an outpatient procedure, maximum hospitalization was 3 days. The mean healing period was 6 (3-10) weeks. Mean follow up was 43 (3-110) months. There were no severe intraoperative complications such as facial paresis, lesions of the ossicles or of the inner ear. As intraoperative complications we found 2 perforations of the tympanic membrane, 2 expositions of the capsule of the mandibular joint, one of which was followed by chronic pain. As postoperative complications we found an early soft tissue stenosis of the external auditory canal and one late soft tissue stenosis which recurred after revision surgery. No recurrence of exostosis was seen. We describe an up to now unknown complication: the appearance of bilateral petrositis caused by staphylococcus epidermidis after bilateral surgery in an otherwise healthy patient. This study confirms that severe complications are rare, minor ones however relatively common. And that also minor complications may have a troublesome follow. Therefore and because of the potential of severe complications indication for surgery must be made cautiously and risks of the operation must not be underestimated.

Aluminum and iron can be deposited in the calcified matrix of bone exostoses.

International audience

How does a riverine setting affect the lifestyle of shellmound builders in Brazil?

The contact of inland and coastal prehistoric groups in Brazil is believed to have been restricted to regions with no geographical barrier, as is the case in the Ribeira de Iguape valley. The inland osteological collection from the riverine shellmound Moraes (5800-4500 BP) represents a unique opportunity to test this assumption for this region. Despite cultural similarities between riverine and coastal shellmounds, important ecological and site distribution differences are expected to impact on lifestyle. The purpose of this study is thus to document and interpret health and lifestyle indicators in Moraes in comparison to coastal shellmound groups. Specifically we test if the rare evidence of fish and mollusc remains in the riverine shellmound led to (a) higher caries rates and (b) lower auditory exostosis frequency and (c) if the small size of the riverine shellmound translates into reduced demographic density and thus rarity of communicable infectious diseases. Of the three hypotheses, (a) was confirmed, (b) was rejected and (c) was partly rejected. Bioanthropological similarities between Moraes and coastal shellmounds include auditory exostoses with equally high frequencies; significantly more frequent osteoarthritis in upper than in lower limbs; cranial and dental morphological affinities and low frequencies of violent trauma. However, there are also important differences: Moraes subsisted on a much broader protein diet and consumed more cariogenic food, but showed a stature even shorter than coastal groups. Thus, despite the contact also suggested by treponematoses in both site types, there was enough time for the people at the riverine site to adapt to local conditions. (c) 2008 Elsevier GmbH. All rights reserved.

Osteocondromatose múltipla hereditária com envolvimento costal

This is a case report on Hereditary Multiple Osteochondromatosis (HMO) with rib involvement. The authors present aspects of thoracic surface anatomy, and thoracic images (X-rays, computed tomography, magnetic nuclear resonance), as well as the operating procedure.

Hemilaminectomia no tratamento de osteocondromatose vertebral em gato

O termo osteocondromatose refere-se a anormalidades proliferativas benignas de tecido cartilaginoso que acomete ossos de origem endocondral. Esta condição pode ser solitária ou múltipla e, neste último caso, é referida como exostose múltipla cartilaginosa (EMC). em felinos, é caracterizada pelo surgimento em animais adultos e por apresentar desenvolvimento progressivo. A osteocondromatose pode ser silenciosa e o paciente poderá apresentar sinais clínicos quando o desenvolvimento das exostoses resultar em compressão de estruturas vitais, como a medula espinhal. em felinos, a enfermidade não possui tratamento conhecido devido ao seu caráter recidivante. Este trabalho relata o êxito da aplicação de hemilaminectomia no tratamento de osteocondromatose vertebral em gato.

Morphology and incidence of torus palatinus and mandibularis in Brazilian Indians

The incidence and morphology of torus platinus and mandibularis was verified in 200 Indians, residents of two Brazilian Indian Reserves in Sao Paulo State, Brazil. A low incidence of both types of exostoses was observed, with torus palatinus occurring more frequently than mandibularis. These structures did not occur in individuals less than 10 years of age. Flattened torus palatinus predominated in relation to the other forms.

Excision of an atypical case of palatal bone exostosis: a case report.

Bone exostosis has long been described in the literature, appearing in most cases as a torus palatinus or mandibularis. These two variations are relatively common and affect approximately 30% of the world's population. Incidence is even higher when human skulls are examined post mortem, indicating that in some cases the exostosis is small and cannot be seen under the soft tissue. Removal of an exostosis is usually associated with the construction of a prothesis, but in rare cases such as the present, the lesion enlarges enough to affect speech and feeding. Few studies have reported the removal of such a large exostosis, and all were conducted in a hospital environment. In this case, complete removal was successfully conducted in an ambulatory clinic under local anesthesia.

Guided Surgery in Unusual Palatal Torus

Palatine torus is a benign congenital outgrowth of bone that affects the hard palate and palatine processes, resulting from the "overworking" of osteoblasts and bone deposition along the line of the palatine fusion. Surgical excision is the only treatment for torus, and such patients are susceptible to intraoperative and postoperative complications of a traumatic, functional, or infectious nature. This article describes an atypical case of torus palatinus measuring 20.31 x 27.25 x 59.20 mm, which is the largest size ever described in the literature. This case required the use of a surgical guide in the intraoperative phase, with viable use in the postoperative phase as well. This guide proved versatile in reducing the risk of undercorrection and complications, offering greater patient comfort.

Osteosarcoma arising from osteochondroma of the tibia: case report and cytogenetic findings

Osteochondroma is a cartilage capped benign tumor developing mainly at the juxta-epiphyseal region of long bones. The rate of malignant transformation, mainly into chondrosarcoma, is estimated to be less than 1-3%. Transformation into osteosarcoma is very rare and has been reported only thirteen times. There is little information on treatment and outcome. We report the case of a secondary osteosarcoma arising in the left tibia of a 23-year-old male, 10 years after the initial diagnosis of osteochondroma and after two partial resections. Malignant transformation occurred at the stalk and not at the cartilage cap, as would normally be expected. Chromosome banding analysis revealed the karyotype: 46,XY, t(3;13)(q21;q34) [2]/46,XY [18]. Records from additional cases will help determine the parameters that define these rare secondary bone lesions.

Clinical, tomographic aspects and relevance of torus palatinus: case report of two sisters

Despite the nomenclature suggested to be a tumor, torus palatinus (TP) is an overgrowth of the bone in the palatal region and represents an anatomic variation. Its prevalence varies among the population studied and its etiology is still unclear; however, it seems to be a multifactorial disorder with genetics and environmental involvement. Surgical removal of the TP is indicated in the following circumstances: (1) deglutition and speech impairment, (2) cancer phobia, (3) traumatized mucosa over the torus, and (4) prosthetic reasons. The aim of this case report is describe cases that occurred in two sisters, emphasizing the genetic etiology of this anatomic variation. In addition, intra-oral exam and computed tomography scan (axial, coronal and sagittal view) provided a detailed assessment of the TP and elimination of other possible diagnoses, furthermore allowed a better analyzes of the anatomic relation with adjacentes structures. No surgical removal was indicated for both cases.

Hypervitaminosis A-induced hepatic fibrosis in a cat

Rationale: The excessive intake of vitamin A in the form of vitamin concentrate, supplement or vitamin-rich liver can result in hypervitaminosis A in man and animals. Although osteopathologies resulting from chronic vitamin A intoxication in cats are well characterized, no information is available concerning feline hypervitaminosis A-induced liver disease. Clinical summary: We report the first case of hepatic stellate cell lipidosis and hepatic fibrosis in a domestic cat that had been fed a diet based on raw beef liver. Radiographic examination revealed exostoses and ankylosis between vertebrae C1 and T7, compatible with deforming cervical spondylosis. Necropsy showed a slightly enlarged and light yellow to bronze liver. Microscopic and ultrastructural analyses of liver tissues revealed diffuse and severe liver fibrosis associated with hepatic stellate cell hyperplasia and hypertrophy. These cells showed immunopositive staining for α-smooth muscle actin and desmin markers. The necropsy findings of chronic liver disease coupled with osteopathology supported the diagnosis of hypervitaminosis A. Practical relevance: As in human hepatology, if there is dietary evidence to support increased intake of vitamin A, then hypervitaminosis A should be considered in the differential diagnosis of chronic liver disease in cats.

Nail surgery

Nail surgery is a special branch of hand and dermatologic surgery. It is not widely performed, and many physicians do not feel at ease to perform it. The objective of this contribution is to give a short overview of the most important surgical procedures in clinical practice. References from the literature and the author's own experiences are condensed to describe what a dermatologic practitioner with knowledge of the nail and some surgical skills can perform. Nail surgery is a precise technique that requires careful administration and attention to details. Proper patient preparation starts with a patient history to identify potential contraindications and to prevent unnecessary complications. The author recommends isopropyl alcohol scrub and chlorhexidine for disinfection and ropivacaine 1% for anesthesia. The technique used for anesthesia depends on the type of surgery. Surgical procedures are described for diagnostic biopsies, nail avulsion in general, onychogryposis, paronychia treatment, hematomas and bone fracture due to trauma, removal of subungual foreign bodies, ingrowing nails, pincer nails, warts, ungual fibrokeratomas, digital myxoid pseudocyst, subungual exostoses, and various tumors. If performed correctly with adequate skills, nail surgery will lead to functionally and aesthetically satisfying results in the majority of instances.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals. TRPS I was present in 85 individuals (22 missense mutations, 62 other mutations), TRPS II in 14, and in 5 it remained uncertain whether TRPS1 was partially or completely deleted. Main features defining the facial phenotype include fine and sparse hair, thick and broad eyebrows, especially the medial portion, a broad nasal ridge and tip, underdeveloped nasal alae, and a broad columella. The facial manifestations in patients with TRPS I and TRPS II do not show a significant difference. In the limbs the main findings are short hands and feet, hypermobility, and a tendency for isolated metacarpals and metatarsals to be shortened. Nails of fingers and toes are typically thin and dystrophic. The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses. Osteopenia is common in both, as is reduced linear growth, both prenatally and postnatally. Variability for all findings, also within a single family, can be marked. Morbidity mostly concerns joint problems, manifesting in increased or decreased mobility, pain and in a minority an increased fracture rate. The hips can be markedly affected at a (very) young age. Intellectual disability is uncommon in TRPS I and, if present, usually mild. In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity. Missense mutations are located exclusively in exon 6 and 7 of TRPS1. Other mutations are located anywhere in exons 4-7. Whole gene deletions are common but have variable breakpoints. Most of the phenotype in patients with TRPS II is explained by the deletion of TRPS1 and EXT1, but haploinsufficiency of RAD21 is also likely to contribute. Genotype-phenotype studies showed that mutations located in exon 6 may have somewhat more pronounced facial characteristics and more marked shortening of hands and feet compared to mutations located elsewhere in TRPS1, but numbers are too small to allow firm conclusions.

Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.

Multiple osteochondromas (also called hereditary multiple exostoses) is an autosomal dominant disorder characterized by multiple cartilaginous tumors, which are caused by mutations in the genes for exostosin-1 (EXT1) and exostosin-2 (EXT2). The goal of this study was to elucidate the genetic alterations in a family with three affected members. Isolation of RNA from the patients' blood followed by reverse transcription and PCR amplification of selected fragments showed that the three patients lack a specific region of 90 bp from their EXT1 mRNA. This region corresponds to the sequence of exon 8 from the EXT1 gene. No splice site mutation was found around exon 8. However, long-range PCR amplification of the region from intron 7 to intron 8 indicated that the three patients contain a deletion of 4318 bp, which includes exon 8 and part of the flanking introns. There is evidence that the deletion was caused by non-homologous end joining because the breakpoints are not located within a repetitive element, but contain multiple copies of the deletion hotspot sequence TGRRKM. Exon 8 encodes part of the active site of the EXT1 enzyme, including the DXD signature of all UDP-sugar glycosyltransferases. It is conceivable that the mutant protein exerts a dominant negative effect on the activity of the EXT glycosyltransferase since it might interact with normal copies of the enzyme to form an inactive hetero-oligomeric complex. We suggest that sequencing of RNA might be superior to exome sequencing to detect short deletions of a single exon.