Cherubism: panoramic and CT features in adults.

OBJECTIVES: To describe the panoramic radiographic and CT features of cherubism in an unselected series of 15 adults. METHODS: In this cross-sectional study, 15 individuals aged 29-84 years with familial non-syndromal molecularly confirmed cherubism were examined with panoramic radiography and CT. Bone abnormalities were analysed and described. RESULTS: 11 (73%) of the 15 adults had mandibular abnormalities. These abnormalities ranged from subtly detectable to severe, and were less prevalent and expansive but could be rather similar to the characteristic image features in children. Unilocular radiolucencies were more common than multilocular radiolucencies, and a specific feature of these abnormalities was that they were exclusively found in the anterior mandible. CONCLUSIONS: The radiographic and CT abnormalities of cherubism in adults were frequent and extremely heterogeneous, with some distinct features.

Case report: Unclassified syndrome involving dental enamel, dentine and lack of tooth eruption.

BACKGROUND: Regional odontodysplasia, also described as ghost teeth, has been described on a number of occasions, in some cases generalized odontodysplasia affecting both the primary and the permanent dentition. However, generalised odontodysplasia is a very rare finding, involving large pulps and short roots of the whole dentition and in the cases previously reported the teeth finally erupt. In the case reported on herein this has not happened. CASE REPORT: A female patient, now aged 22-years-old, cared for in the TAKO-centre (Oslo) since she was 5 years old, presented with a continuing problem of absence of permanent teeth due to total lack of eruption. All her permanent teeth were either retained intra-alveolar or had been extracted following previous periods of pain and infections. There was no enamel on any of the permanent teeth and the dentine was softer than normal. In addition, there appeared to be very little potential for eruption. Hence, tooth development was affected in all aspects. Her skeletal height was much shorter than expected taking her tall parents into consideration. After all possible assessments, no specific diagnosis for the condition of this young woman has been determined. TREATMENT: Before the present series of dental care the patient was wearing full dentures in both jaws. In the autumn of 2007, implants were placed in her maxilla and an implant supported fixed prosthesis in porcelain was installed the following spring. Similarly, implants were placed in her mandible, partly in retained teeth, in the autumn of 2008, and an implant supported fixed prosthesis was inserted during the spring of 2009. FOLLOW-UP: after prosthetic treatment a dental hygienist has seen the patient regularly. No problems or signs of infections have occurred to date. CONCLUSION: This case report concerns a rare and apparently un-named syndrome affecting both primary and permanent teeth. This paper has been written with an aim of gathering the views as to the aetiology of her problem, hopefully finally to provide a definitive diagnosis.

The management of ectodermal dysplasia and severe hypodontia. International conference statements.

An international conference on ectodermal dysplasias and hypodontia, held in London in 2004, featured a session devoted to the management of the ectodermal dysplasias and severe hypodontia. This paper presents a set of statements prepared by an international specialist panel, including representatives of patient support groups, who presented and subsequently debated a series of papers on this subject. The following topics were explored: potential roles of patient support groups; core care standards, including the roles and composition of medical and dental multidisciplinary teams for treating these conditions; the format of a baseline data set for patients with an ED; and priorities for research in ectodermal dysplasias, with particular regard to laboratory and clinical studies, and research methodology. The statements are intended to form an international framework for developing patient care pathways, and collaborative research in this field.

Oligodontia is associated with extra-oral ectodermal symptoms and low whole salivary flow rates.

INTRODUCTION: Ectodermal dysplasias (EDs) involve abnormal development of hair, teeth, nails, and sweat glands. OBJECTIVES: (1) To investigate the frequency of extraoral ectodermal symptoms in persons with oligodontia (>6 congenitally missing teeth). (2) To examine whole salivary flow rates in oligodontia patients, with special emphasis on persons with EDs. SURVEY GROUP AND METHODS: Sixty-eight persons with oligodontia and 39 healthy control persons were included. All participants underwent an interview, general and oral examinations, and whole salivary secretory tests. RESULTS: Thirty-nine (57%) of the oligodontia patients had disturbances in either hair, nails and/or sweat production in addition to teeth and were classified as the ED group. The remaining 29 oligodontia patients had no obvious signs of EDs (non-ED group). The prevalences of dry skin, asthma and eczema were higher, and whole salivary secretory rates lower, in the ED group as compared to the control group. Intermediate values were observed in the non-ED group. Incisors, canines and molars were more frequently missing in the ED group than in the non-ED group, whereas no differences were observed in the frequency of missing premolars. Negative correlations between the number of missing teeth and unstimulated and chewing stimulated whole salivary secretory rates were found.

Rieger syndrome is associated with PAX6 deletion.

PURPOSE: Rieger syndrome is an autosomal dominant condition defined by anterior segment dysgenesis in combination with facial, dental, skeletal and umbilical abnormalities. To date Rieger syndrome has been associated with mutations in the PITX2 gene at chromosome 4q25 and a second locus has been found at chromosome 13q14. METHODS: We describe a Rieger syndrome case with all the typical dysmorphic features and the molecular genetic finding by use of FISH analysis of the PAX6 gene. RESULTS: An eight-year-old girl had iris stroma hypoplasia, corectopia and iridogoniodysgenesis. She had an underdeveloped premaxilla and a congenital absence of nine teeth in the maxilla. The front teeth in the mandible were peg-shaped and all teeth were small. There was failure of involution of the periumbilical skin. FISH analysis using probes for the PAX6 gene showed a small deletion for the PAX6 gene on one homologue of chromosome 11. CONCLUSION: Rieger syndrome can -- in addition to PITX2 gene mutations and abnormalities at chromosome 13q14 -- be associated with PAX6 gene abnormalities.

[Crohn disease of the oral cavity, illustrated by some cases]. / Crohns sykdom i munnhulen, belyst med noen kasuistikker.

BACKGROUND: We have several times experienced that Crohn's disease has not been diagnosed until several years after the start of oral symptoms. This article presents some patients with oral manifestations of Crohn's disease, as a contribution to more awareness of this possibility. MATERIAL AND METHODS: Clinical and histological data from four patients are presented. RESULTS: All patients had granulomatous inflammation of the oral mucosa. In three patients, the disease started in the mouth. The diagnosis of intestinal Crohn's disease was made from some months up to seven years later. In one patient, no granuloma was found in the intestinal tract, but the patient had intestinal symptoms. Two patients experienced disappointments in their contacts with the local health care system, with considerable delay in diagnosis. INTERPRETATION: We interpret these cases as evidence that a greater awareness of the possibility of Crohn's disease in the oral cavity may lead to a quicker diagnosis, earlier correct treatment, and less patient worry caused by uncertainty.

Morphology of dental enamel and dentine-enamel junction in osteogenesis imperfecta.

OBJECTIVES: The aim of this study was to examine the morphology of primary and permanent human enamel, and the dentine-enamel junction, in individuals with osteogenesis imperfecta (OI) type I, III and IV in undecalcified sections using polarized light microscopy, microradiography and scanning electron microscopy (SEM), and to relate the findings to the type of OI. SAMPLE AND METHODS: Extracted or exfoliated teeth from 15 patients representing the OI types I, III and IV (12 primary teeth from seven patients, and 11 permanent teeth from eight patients). Ten primary and nine permanent teeth from normal healthy patients served as controls. The teeth were serially cut longitudinally in a bucco-lingual direction and contact microradiographs were made. The sections were examined in polarized light. Sections of primary and permanent teeth were examined by means of SEM. RESULTS: This study shows that the permanent enamel from patients with OI exhibits few structural changes. No relationships were found between enamel morphology and the types of OI (I, III, IV). Primary enamel appeared to be slightly more irregularly mineralized, especially in cases with the additional diagnosis dentinogenesis imperfecta. The major findings were deviations in association with the dentine-enamel junction, and locally a lower degree of mineralization. CONCLUSIONS: The mesodermal disease OI might also be manifested in ectodermal enamel, probably because of suboptimal mesenchymal-ectodermal interactions during amelogenesis.

Discrimination of morphological findings in dentine from osteogenesis imperfecta patients using combinations of polarized light microscopy, microradiography and scanning electron microscopy.

OBJECTIVES: The aim of this study was to investigate the morphological appearance of dentine in teeth from individuals with osteogenesis imperfecta type I, III and IV using different histological techniques, and to correlate morphological findings to different types of osteogenesis imperfecta. SAMPLE AND METHODS: Extracted or exfoliated primary and permanent teeth were collected from 15 patients with the osteogenesis imperfecta diagnoses I, III or IV, with or without the additional diagnosis dentinogenesis imperfecta. Ground and decalcified sections were prepared from the teeth. Histo-morphological studies of the dentine were performed utilizing light and polarized light microscopy, microradiography and scanning electron microscopy. RESULTS: Characteristic findings were irregular tubules, remnants of capillary inclusions and obliterated pulps. All types of osteogenesis imperfecta exhibited similar types of dentine aberrations, but patients with type III or IV had a higher frequency of aberrations when compared to type I. CONCLUSIONS: The combination of either polarized light microscopy or micro-radiography, together with scanning electron microscopy, gave the most amount of morphological information from dentine samples. In addition, aberrations in dentine structure were more clearly observable. Light microscopy was not critical for the analyses.

Salivary secretions: narcolepsy and central nervous system stimulants.

In an ongoing attempt to develop a model to study the influence of various diseases and drugs on saliva, we studied persons with narcolepsy treated with central nervous system stimulants. The aim was to study the secretion of salivary proteins in narcolepsy in the presence and absence of central nervous system stimulants. For this purpose, two proteins synthesized in acinar cells, acidic proline-rich proteins (PRPs) and statherin, were selected. Persons with narcolepsy treated with central nervous system stimulants only were included, n = 12, ages 14 to 68, seven females. Citric-acid-stimulated parotid and submandibular/sublingual saliva samples were collected from these persons during medication, after a drug-free period of one week, at least two weeks after the drug had been re-introduced, and from a matched healthy control group. PRP and statherin concentrations were determined by means of reversed-phase and anion exchange chromatography, respectively. Both concentration and output of statherins and PRPs were increased in persons with narcolepsy receiving central nervous system stimulants compared with healthy control individuals. When the drug was withdrawn, salivary flow rates were not influenced. In contrast, withdrawal of the drug led to a significantly decreased secretion of PRPs and statherin. The reduced protein secretion may reflect decreased adrenergic activation in narcolepsy, to be reversed by treatment with central nervous system stimulants. It can be concluded that measurements of both salivary fluid and salivary proteins may be necessary for an overall evaluation of the effects of a given drug or disease on salivary secretion.

Salivary gland involvement in hypohidrotic ectodermal dysplasia.

Ectodermal dysplasias (EDs) are a group of developmental disorders (more than 100) mainly affecting ectodermal tissues and organs. The X-linked hypohidrotic ED (HED) is the most common form of EDs, involving defects in teeth, sweat glands, and hair. In a few reports, HED has been associated with reduced salivary function. In the present case report, a dramatically reduced salivary fluid and acidic proline rich protein production was identified in a 38-year-old man with HED. Computed tomography was performed, revealing that one submandibular gland and both parotid glands were hypoplastic, whereas the right submandibular gland seemed to be absent. These findings are in line with a general developmental disturbance also involving the salivary glands. As salivary tests are inexpensive and easy to perform, it is suggested to routinely evaluate salivary secretion in persons with HED, to prevent a possible negative impact on oral health.

Salivary secretion and oral health in narcolepsy: a pilot study.

Complaints of dry mouth and poor dental health are common in persons with narcolepsy. The aim of this study was to investigate whether salivary secretion is reduced in narcolepsy. Persons using tricyclic anti-depressants (TCAs) were excluded, since TCAs are known to reduce salivary secretion. Thus, two patient subgroups were studied, one on central stimulant (CS) treatment (medicated group, n = 12), and one unmedicated group (n = 8), representing all persons with narcolepsy living in the Oslo area meeting these criteria. The survey group and 20 age- and sex-matched healthy control persons without symptoms of dry mouth were examined with respect to the following parameters: unstimulated (UWS) and chewing-stimulated (SWS) whole salivary flow rates, citric-acid-stimulated parotid and submandibular flow rates, buffering effect, and number of some aciduric micro-organisms in the oral cavity. As a group, persons with narcolepsy had lower whole salivary flow rates, a lower buffering effect, and higher Candida albicans scores than the control group. When the patients were divided into the medicated and unmedicated groups, these differences were valid only for the medicated group. Whether the observed differences were effects of CS medication or reflected that these persons were more seriously affected by the disease has to be further explored.

Conscious sedation by rectal administration of midazolam or midazolam plus ketamine as alternatives to general anesthesia for dental treatment of uncooperative children.

The trial included 24 children (aged 2-7 yr) referred for dental treatment under general anesthesia, since conventional behavioral management methods had failed to achieve treatment acceptance. As an alternative, they received, on two separate occasions with "identical" dental treatment, conscious sedation by rectal administration of either midazolam (0.3 mg/kg body weight (bwt)) or midazolam (0.3 mg/kg bwt) plus ketamine (1.0 mg/kg bwt). This allowed a double-blind, crossover design. The aims were to assess conscious sedation, combined with local anesthesia, as an alternative to general anesthesia, and further to evaluate the effects obtained by addition of a low dose of ketamine to rectally administered midazolam. The feasibility of dental treatment was rated as excellent or good for 16 of the 24 children when premedicated with midazolam, and for 18 of the 24 children when ketamine was added to midazolam. At least some treatment could be given to all children. Verbal contact was maintained with all children throughout both treatment sessions. The children were significantly less anxious when they arrived for the second session. Amnesia and drowsiness were significantly increased when ketamine was added to midazolam. The combination also tended to be more efficient in relief of anxiety and prevention of pain, but there were large variations in the children's responses to the drugs. Midazolam significantly reduced the blood oxygen level, but not with ketamine added. For most children, both regimens proved to be appropriate as alternatives to general anesthesia.(ABSTRACT TRUNCATED AT 250 WORDS)

Remaining teeth, oral dryness and dental health habits in middle-aged Norwegian rheumatoid arthritis patients.

The aim of the study was to assess the effect of rheumatoid arthritis (RA) upon dental health. A questionnaire was mailed to all seropositive rheumatoid arthritis (RA) patients aged 44-56 yr in the files of the two main departments of rheumatology in South Eastern Norway. Data were obtained from 125 patients, constituting 91% of the target group. The number of remaining teeth in these patients was not related to disease duration or physical dysfunction, whereas a relationship to prolonged use of medication for pain relief was indicated. Factors known to affect tooth loss in the general population, such as smoking habits, dental attendance, interdental cleaning habits, previous dental disease, and place of residence were found to be important in RA patients as well. The RA patients from Oslo had a mean number of 25 remaining teeth, which is the same as reported for the general Oslo population at this age. Oral dryness was reported by more than 50% of the RA patients, but was not related to the number of teeth. The conclusion is that serious and long lasting rheumatoid arthritis had little influence on the number of remaining teeth in this middle-aged group of Norwegians.

[The mentally retarded dental patients. Who are they?]. / Psykisk utviklingshemmede--tannhelselovens gruppe B. Hvem er de?

More than 30,000 Norwegians are mentally retarded and about 50% of them are severely retarded and often multihandicapped. Before 1975 the majority of the severely retarded resided in large institutions. New legislation has led to an increasing emphasis on decentralization and integration in local communities. Mental retardation is caused by prenatal brain damage in 90% of the cases. Chromosomal aberrations like Down and Fragile-X syndromes are the most common causes. A high proportion of individuals with autism, cerebral palsy, epilepsy and sensory defects are mentally retarded, and the most common additional diagnoses in mental retardation are speech defects, epilepsy, cerebral palsy, congenital heart disease, sight and hearing impairment and hydrocephalus. Almost 1/3 of the mentally retarded adults have developed psychiatric disturbances. Families with mentally retarded children are affected emotionally, socially and economically, and the burden increases as the mentally retarded individual grows older.

[The mentally retarded and the dental health services. Treatment needs and preventive strategies]. / Tannhelsetjenesten og de psykisk utviklingshemmede. Behandlingstilbud og behov.

Mentally retarded individuals are, since 1984 a priority group for the Norwegian public dental health service. This group of patients may have many problems which affect oral health. Difficulties with feeding are common, as are various oral motor problems like rumination, bruxism, mouth breathing and drooling. The impaired oral function may cause retention of food, reduced self-cleaning from lips and tongue and long-term use of puree food. Obstipation is a common problem which is often treated with prunes, raisins or sweetened laxatives. In behaviour modification programs sweets are often used as rewards. Tooth cleaning may cause problems for many parents and caretakers due to lack of cooperation or anatomical malformation of oral structures or teeth. Dental treatment may also be difficult to perform. Recent research in Nordic countries supports earlier reports that mentally retarded individuals have a high incidence of plaque, periodontal disease and malocclusion. Caries does not seem to be a problem. Nevertheless, older individuals with mental retardation have more untreated caries and missing teeth than average. Early intervention with oral motor training and frequent regular preventive treatment (4 x per year) will reduce caries, periodontal disease, early tooth loss and the need for treatment under general anesthesia in the future.

Dental caries and periodontitis in persons with Down syndrome.

In a central institution for persons with mental retardation, the dental status in 30 adult patients with Down syndrome was compared with that in a carefully selected group of gender- and age-matched mentally retarded patients. This investigation showed an increased frequency of periodontitis in the population with Down syndrome. The caries rate, however, did not differ demonstrably between the groups. Edentulism was more frequent in patients with Down syndrome than in controls, and this fact may substantiate the observation of increased frequency of periodontitis. Caries seems to be less prevalent in institutionalized patients with mental retardation than in the population at large.

[Laurence-Moon-Bardet-Biedl syndrome]. / Laurence-Moon-Bardet-Biedl syndrom.

In 1984, 32 persons with Laurence-Moon-Bardet-Biedl syndrome (LMBB) were registered in Norway. This means that the disorder was seen at a rate of 1 in 128,000 inhabitants. Of these, 26 attended the Frambu Health Centre, where they consulted a pediatrician, a psychologist, a dentist, a social worker, a geneticist, a teacher for the blind and an ophthalmologist. The cardinal signs were retinitis pigmentosa, obesity and polydactyly. We also found that all the patients had disturbance of tooth formation. Many had hypogenitalism. Mental retardation is usually included as a cardinal sign. Our impression is that most of the patients have normal intelligence. But this will be investigated further in a follow-up study on young people with LMBB.

Effect of a slow release transcutaneous scopolamine application on salivary flow, pH, buffering action, and salivary levels of Streptococcus mutans and lactobacilli.

A motion sickness plaster releasing a powerful antisialogogic agent, scopolamine, was tested in a double blind clinical trial for its effect on salivary parameters in 14 healthy young men. The agent caused a decline in salivary flow rates, which was most pronounced during unstimulated conditions. Salivary pH and buffer capacity were also reduced. Salivary levels of Streptococcus mutans and lactobacilli showed a tendency to increase during 2 days on the antisialogogic agent, but the effect on S. mutans levels was not statistically significant.