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This study aims to investigate the toxic effects of metals, which dental technicians are exposed to, on the oral mucosa cells in dental prosthesis laboratories (DPL). To monitor cytotoxic effects, mutations of pyknosis, Karyolysis Karyorrhexis, binucleus, micronucleus, and broken-egg were evaluated. Experimental group comprised of a total of 30 volunteer DPL employees from various DPLs, and 30 teachers and office workers were volunteered to be a part of the control group. Age range of DPL employees and whether they consume alcohol or smoke cigarettes were also considered as sub-variables. Peripheral smear technique was applied by taking samples from the oral mucosa of the experimental group and the control group. Anomalies determined between technicians and control group were statistically significant ( p  < .05). However, our findings revealed that the sub-variables (ie, age range, alcohol, and smoking) did not significantly affect the anomalies.

Purpose: Oral-mucosal pressure injury (PI) is the most commonly encountered medical device-related PIs. This study was performed to identify risk factors and construct a risk prediction model for oral-mucosal PI development in intubated patients in the intensive care unit., Methods: The study design was prospective, observational with medical record review. The inclusion criteria stipulated that 1) participants should be > 18 years of age, 2) there should be ETT use with holding methods including adhesive tape, gauze tying, and commercial devices. Data of 194 patient-days were analysed. The identification and validation of risk model development was performed using SPSS and the SciKit learn platform., Results: The risk prediction logistic models were composed of three factors (bite-block/airway, commercial ETT holder, and corticosteroid use) for lower oral-mucosal PI development and four factors (commercial ETT holder, vasopressor use, haematocrit, and serum albumin level) for upper oral-mucosal PI development among 10 significant input variables. The sensitivity and specificity for lower oral-mucosal PI development were 85.2% and 76.0%, respectively, and those for upper oral-mucosal PI development were 60.0% and 89.1%, respectively. Based on the results of the machine learning, the upper oral-mucosal PI development model had an accuracy of 79%, F1 score of 88%, precision of 86%, and recall of 91%., Conclusions: The development of lower oral-mucosal PIs is affected by immobility-related factors and corticosteroid use, and that of upper oral-mucosal PIs by undernutrition-related factors and ETT holder use. The high sensitivities of the two logit models comprise important minimum data for positively predicting oral-mucosal PIs., (Copyright © 2020 Tissue Viability Society. Published by Elsevier Ltd. All rights reserved.)

Background: Mucosal diseases of the oral cavity are relatively common, and patients often seek initial assessment from their general practitioner., Objective: The aim of this article is to provide an overview of common oral mucosal diseases to help with formulating a differential diagnosis and stratifying the urgency of referral., Discussion: Pathological mucosal conditions of the oral cavity and jaws commonly present as a mucosal ulcer or a white, red or pigmented lesion. In this review, the authors outline the most common conditions organised according to their clinical presentation and describe their typical appearance and management.

Introduction: Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate., Objective: In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population., Methods: We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS ® version 19.0, by applying Chi-Square tests. Values with p<0.05 were considered statistically significant., Results: Of the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p=0.773). The average age of children was 3.75 years (standard deviation±3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly., Conclusion: This study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts., (Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.)

A fixed drug eruption consists of erythematous patches that appear on the skin and/or mucous membranes following administration of a drug which, once healed, leaves residual hyperpigmentation. We report a 76-year-old male who presented to the Thriasio General Hospital, Athens, Greece, in 2016 with erythema, oedema and blistering of the lower lip and glans penis following the administration of silodosin for benign prostatic hyperplasia. The eruption regressed two weeks after silodosin was discontinued.

Introduction: Mucosal involvement is commonly seen in patients with lupus; however, oral examination is often forgotten. Squamous cell carcinoma arising within oral lupoid plaques has been described, emphasizing the importance of identifying and treating oral lupus., Methods: We undertook a retrospective single-centre study looking at oral findings in patients attending our multidisciplinary lupus clinic between January 2015 and April 2016., Results: A total of 42 patients were included. The majority of patients were female (88%) and had a diagnosis of discoid lupus erythematosus (62%). Half of the patients had positive oral findings, 26% had no oral examination documented, and 24% had documented normal oral examinations., Conclusion: Our findings suggest that oral pathology is common in this cohort of patients. Regular oral examination is warranted to identify oral lupus and provide treatment. Associated diseases such as Sjogren's syndrome may also be identified. Patients should be encouraged to see their general dental practitioners on a regular basis for mucosal review. Any persistent ulcer that fails to respond to treatment or hard lump needs urgent histopathological evaluation to exclude malignant transformation to squamous cell carcinoma.

Diabetes mellitus (DM) is characterized by high blood glucose. Excessive production of free radicals may cause oxidative damage to DNA and other molecules, leading to complications of the disease. It may be possible to delay or reduce such damage by administration of antioxidants such as folic acid (FA). The objective of this study was to determine the effect of FA on nuclear abnormalities (NAs) in the oral mucosa of patients with DM. NAs (micronucleated cells, binucleated cells, pyknotic nuclei, karyorrhexis, karyolysis, abnormally condensed chromatin, and nuclear buds) were analyzed in 2000 cells from 45 healthy individuals (control group) and 55 patients with controlled or uncontrolled type I or II DM; 35 patients in the latter group were treated with FA. Samples were taken from the FA group before and after treatment. An increased rate of NAs was found in patients with DM in comparison with that of the control group (P<0.001). FA supplementation in patients with DM reduced the frequency of NAs (20.4 ± 8.0 before treatment vs. 10.5 ± 5.2 after treatment; P<0.001). The type I and type II DM and controlled and uncontrolled DM subgroups were analyzed in terms of sex, age, and smoking habit. The significantly reduced frequencies of buccal mucosa cells with micronuclei, binucleation, pyknosis, karyorrhexis, karyorrhexis+abnormally condensed chromatin, karyolysis, and nuclear buds produced by FA supplementation in DM patients (P<0.02) are consistent with the idea that free radicals are responsible for the increased frequency of NAs in DM patients., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Midline upper-lip fistulas are an extremely rare variant of congenital facial malformations. Less than 30 cases have been reported in the literature since 1970. We report the case of a 2 and a half-year-old girl presenting with a median congenital blind fistula of the upper lip, without any relation with the oral cavity. A recurrent swelling of the upper lip was the main symptom. Complete surgical excision of the cyst or of the fistulous tract must be obtained to avoid recurrence., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Background: Deregulation of β-catenin is associated with malignant transformation; however, its relationship with potentially malignant and malignant oral processes is not fully understood. The aim of this study was to determine and compare the nuclear β-catenin expression in oral dysplasia and oral squamous cell carcinoma (OSCC)., Material and Methods: Cross sectional study. Immunodetection of β-catenin was performed on 72 samples, with the following distribution: 21 mild dysplasia, 12 moderate dysplasia, severe dysplasia 3, 36 OSCC including 19 well differentiated, 15 moderately differentiated and 2 poorly differentiated. Through microscopic observation the number of positive cells per 1000 epithelial cells was counted. For the statistical analysis, the Kruskal Wallis test was used., Results: Nuclear expression of β-catenin was observed in all samples with severe and moderate dysplasia, with a median of 267.5, in comparison to mild dysplasia whose median was 103.75. Only 10 samples (27.7%) with OSCC showed nuclear expression, with statistically significant differences between groups (p < 0.05)., Conclusions: Our results are consistent with most of the reports which show increased presence of β-catenin in severe and moderate dysplasia compared to mild dysplasia; however the expression of nuclear β-catenin decreased after starting the invasive neoplastic process. This suggests a role for this protein in the progression of dysplasia and early malignant transformation to OSCC. Immunodetection of β-catenin could be a possible immune marker in the detection of oral dysplasia.

We report an oblique lip-alveolar band, a rare banding of soft tissue that involves the lip and alveolus, which we have found in five patients with cleft lip and palate (0.2%), compared with an incidence of the Simonartz lip-lip band of 5.7%). To our knowledge this has not been reported previously. In two patients the bands affected the cleft lip and alveolus bilaterally, with or without the palatal cleft, and in three the bands were unilateral cleft lip and alveolus with or without the palatal cleft., (Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Background: This paper aims to review the case of a girl who presented with a number of dental anomalies, in addition to unusual skin, nail and hair conditions. Tragically an undiagnosed cardiomyopathy caused unexpected sudden death. The case is discussed with reference to a number of dermatological and oral conditions which were considered as possible diagnoses., Case Report: AW had been under long term dental care for prepubertal periodontitis, premature root resorption of primary teeth, soft tissue and dental anomalies, and angular cheilitis. Separately she had also been seen by several dermatologists with respect to palmar plantar keratosis, striae keratoderma, wiry hair and abnormal finger nails. Tragically the patient suffered a sudden unexpected death and the subsequent post mortem identified an undiagnosed dilated cardiomyopathy., Conclusion: The most likely diagnosis is that this case is a variant of Carvajal Syndrome with additional dental anomalies. To date we have been unable to identify mutations in the desoplakin gene. We aim to emphasise the importance of recognising these dental and dermatological signs when they present together as a potential risk factor for cardiac abnormalities., (© 2012 The Authors. International Journal of Paediatric Dentistry © 2012 BSPD, IAPD and Blackwell Publishing Ltd.)

The authors present five cases of combined oral mucosa-mandible defects reconstructed with the vascularized internal oblique-iliac crest myoosseous free flap. This technique has many advantages compared to other conventional methods such as the radial flap, scapula flap, and fibula flap. Vascularized iliac crest flaps provide sufficient high-quality bone suitable for reconstructing segmental mandibular defects. Although fibular flaps allow longer donor bone tissue to be harvested, the iliac crest can provide an esthetic shape for mandibular body reconstruction and also provides sufficient bone height for dental implants. Conventional vascularized iliac crest myoosseous flaps have excessive soft tissue bulk for reconstruction of intraoral soft tissue defects. The modification discussed in the present article can reduce soft tissue volume, resulting in better functional reconstruction of the oral mucosa. Another advantage is that complete replacement of the oral mucosa is observed in as early as one month post-operation. The final mucosal texture is much better than that obtained with other skin paddle flaps, which is especially beneficial for the placement of dental implant prostheses. Donor site morbidity looks to be similar to, if not less than that observed for other modalities in terms of function and esthetics. For combined oral mucosa-mandible defects, the vascularized internal oblique-iliac crest myoosseous free flap shows good results with respect to hard and soft tissue reconstruction.

In brachycephalic dogs, the skull bone shortening is not paralleled by a decreased development of soft tissues. Relatively longer soft palate is one of the main factors contributing to pharyngeal narrowing during normal respiratory activity of these dog breeds, which are frequent carriers of the brachycephalic airway obstructive syndrome (BAOS), which affects most part of them during their postnatal life. No histological studies assessing the morphology and the normal tissue composition of the soft palate in brachycephalic dogs are available, neither has ever been determined whether the elongated soft palate is a primary or secondary event. Aim of this study was to describe the morphology of the caudal soft palate in brachycephalic dogs with Grade I BAOS to identify potential features possibly favoring the pathogenesis of BAOS. Specimens from brachycephalic dogs (N = 11) that underwent preventive surgery were collected from surgery, processed for histology, and examined at six transversal levels. The brachycephalic soft palates showed peculiar features such as thickened superficial epithelium, extensive oedema of the connective tissue, and mucous gland hyperplasia. Several muscular alterations were evidenced in addition. The results of this investigation add to the general knowledge of the anatomy of soft palate in the canine species and establish baseline information on the morphological basis of the soft palate thickening in brachycephalic dogs., (Copyright © 2011 Wiley-Liss, Inc.)

Background: Various surgical options are available for reconstruction of intraoral soft tissue defects. For smaller defects of the oral mucosa in different anatomic locations of the oral cavity the nasolabial flap is a very useful and simple alternative to other pedicled flaps and free flaps., Methods: The results of reconstruction of oral mucosal defects or facial skin defects using 29 nasolabial flaps in 22 patients were reviewed retrospectively., Results: The patient group consisted of 16 patients (70%) with squamous cell carcinoma of the oral cavity, 2 patients (10%) with cystic lesions of the maxilla, 3 patients (15%) with osteonecrosis of the jaw, and 1 patient with an oral metastasis of a lung carcinoma. Healing was uneventful in 93%, partial or complete flap loss was observed in 7%., Conclusions: The nasolabial flap is a valuable alternative for reconstruction of smaller defects of the oral cavity in particular in older and medically compromised patients.

Soft tissue grafts are commonly used to restore and/or improve mucogingival deformities and conditions around teeth or on edentulous ridges. This include vertical and/or horizontal ridge deficiency, lack of gingiva/keratinized tissue, decreased vestibular depth and abnormal color. The present article describes and illustrates different procedures using autologous soft tissue grafts including masticatory mucosal free graft, masticatory mucosal pedicle graft, subepithelial free connective tissue graft, and subepithelial dermal graft. The functional and esthetic advantages and limitations of each graft for each condition are discussed.

Objectives: The purpose of this study was to document the results of bleomycin A5 sclerotherapy for cervicofacial lymphatic malformations (LMs), and the clinical data of 65 patients between October 2004 and October 2007 were reviewed., Methods: Of the 65 patients in the study, 60 patients were given intralesional injection of bleomycin A5. Five patients underwent partial resection, and then an injection of bleomycin A5 for the remaining lesion. The outcomes were assessed by physical examination and Doppler ultrasonography scan. The follow-up time was from 6 months to 3 years after the last injection (mean, 16 months)., Results: Among the 65 patients, 41 were men and 24 were women (1.7:1 male:female ratio), the age range was 3 months to 45 years (mean, 12 years). Thirty-two lesions (49%) were macrocystic, 30 (46%) were microcystic, and 3 (5%) were combined. Each patient received 1 to 10 injections (mean, 3.0 injections) for the whole course of treatment, and the total dose of bleomycin A5 was from 8 to 80 milligrams (mean, 24.0 mg). Twenty-six of 32 macrocystic lesions (81%) showed greater than 90% reduction, whereas another 6 (19%) exhibited 50% to 90% reduction. Nineteen of 30 microcystic lesions (63%) showed greater than 90% reduction; 10 (33%) had 50% to 90% reduction; and 1 (4%) had less than 50% size reduction. Of the 3 combined lesions, 2 (67%) had greater than 90% shrinkage, and 1 (3%) had less than 50% reduction. The complications included ulceration of oral mucosa, minor soft tissue atrophy, mild fever, and hematoma. There was no recurrence throughout the follow-up period., Conclusion: These data suggest bleomycin A5 is a safe and effective intralesional agent for the treatment of macrocystic LMs, superficial oral mucosa LM, and localized deep microcystic lesions. For extensive macrocystic LMs involving contiguous anatomic areas and diffuse microcystic lesions involving deep tissues, bleomycin A5 injection combined with resection is necessary., (Copyright © 2011 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.)

Introduction: Congenital maxillomandibular fusion is a very rare condition with few cases reported. Cases of combinations of bony or soft tissue adhesions between the mandible and maxilla with cleft of the lip or palate, aglossia, popliteal pterygium and van der Woude syndrome have been reported., Case Report: The aim of this paper is to report a case of fibrous maxillomandibular fusion of the jaws, with synechiae of buccal mucosa and the gingivae, which was referred to the Oral and Maxillofacial team of the Korle-Bu Teaching Hospital, Accra, Ghana soon after delivery. Separation of the fusion was done under nitrous oxide/oxygen sedation. Cleft of the hard palate was discovered during surgery., Conclusion: Maxillomandibular syngnathia is considered rare and synechiae with other maxillofacial abnormalities without syngnathia could exist and should not be ruled out. This report adds more information to the literature, by reporting a baby with synechiae and a cleft of the palate. Prompt, definitive diagnosis and management of other abnormalities in the baby could only be done under deep sedation. This was necessary to avoid deformity and early death.

Double lip is a rare oral anomaly caused by hyperplastic tissue of the labial mucosa that becomes more prominent with tension caused by smiling. This congenital or acquired abnormality can interfere with chewing, speaking, and esthetics. Recognition of double lip and appropriate surgical treatment can reduce these potential problems. The purpose of this article is to review the literature regarding double lip and present an unusual case of recurrence simultaneously involving the upper and lower lips.

A retrospective study was undertaken of 3100 facial cleft cases in order to analyse and determine the incidence of the isolated cleft of the hard palate. This presented as a very rare occurrence in three different variations, each having specific clinical appearances. The literature search revealed three publications each describing a single isolated hard palate cleft. However, these publications described hard palate clefts witnessed with other additional submucosal clefts or due to infection of the hard palate. They differ, in most cases, from the development and appearances of the clefts described in this paper. This single paper describes 13 cases, demonstrating the three variations of the isolated cleft of the hard palate.

We report a sporadic case of congenital lateral cleft palate and lateral palatal synechiae and suggest that its mechanism is embryonal. This is the first published case that we know of with cleft palate-lateral synechiae syndrome including the lateral cleft palate.

Ellis-van Creveld syndrome (EvC) is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2, have been identified to cause the condition. It has been considered as a skeletal dysplasia with an incidence of approximately 1 out of 1,50,000 live births. A high prevalence has been reported among certain populations like Amish and Arabs of Gaza strip. There are more than 300 cases of EvC reported into the literature. About 50-60% of cases have been reported with congenital cardiac malformations.

Objective: To determine the safety and effectiveness of endoscopic partial adenoidectomy for the treatment of nasal obstruction in children with submucosal cleft palate., Methods: The medical files of children with symptoms of nasal obstruction and submucosal cleft palate who underwent partial transnasal endoscopic adenoidectomy from January 1993 to December 2003 were reviewed. Operative complications, relief of nasal obstruction, presence of postoperative velopharyngeal insufficiency were recorded., Results: There were no operative complications. All the children had relief of nasal obstruction. Velopharyngeal insufficiency was not observed during the postoperative follow-up., Conclusions: Endoscopic partial adenoidectomy is a safe and effective procedure for the treatment of nasal obstruction in children with submucosal cleft palate.

No markers for the unaffected parents of children with achondroplasia (ACH) are known to date. Here, the value of oral mucosal reflectance in identifying unaffected parents of ACH patients with sporadic mutations was assessed. The study involved ACH children (n = 30), unaffected ACH parents (n = 60), and a sex- and age-matched controls (control children, n = 30; control parents, n = 60). Light reflectance of the lower gingival and vestibular oral mucosa was measured using an imaging reflectance system in the optical spectrum (400-700 nm wavelengths). Significantly higher reflectance values in the 410 to 630 nm wavelength range were observed in ACH patients (P < or = .0063), whereas significantly lower reflectance values over the whole optical spectrum were observed in ACH parents (P < or = .0001). A reflectance cutoff value < or =4.71% at the 430 nm wavelength identified ACH parents with 100% sensitivity and 96.4% specificity. These findings indicate the presence of previously unrecognized oral mucosal reflectance abnormalities in unaffected ACH parents of ACH children.

Down syndrome is a leading genetic cause of mental retardation. Here, we show high fractal dimensions and Lempel-Ziv complexity and lower minimum path fractal dimension (P < or = .0006) for the oral vascular networks of patients (n = 14) and their unaffected parents. This newly recognized sign may provide a useful phenotypical marker for identifying couples potentially at risk for offspring with Down syndrome.

Ehlers-Danlos syndrome (EDS) leads to impaired extracellular matrix (ECM) structure. Since ECM plays a major role in blood vessel geometry, we tested the hypothesis of an abnormal geometrical complexity of the visible microvascular network in EDS. Twelve patients with EDS-II or EDS-III and a control population (n=12) were examined. The geometry characteristics for the networks on the lower vestibular oral mucosa were analyzed using high-resolution photographic images. Fractal dimension, D, at 2 scales (D 1-46 and D 1-15), blood vessel tortuosity (minimum-path fractal dimension , Dmin ), and relative Lempel-Ziv complexity (L-Z) values were determined. EDS vascular networks exhibited significantly higher D 1-46 (P <.00001) and D 1-15 (P <.00001), as well as L-Z complexity (P <.00001), together with lower Dmin values (P=.0001) than controls. These findings indicate the presence of a previously unrecognized microvascular network abnormality on the oral mucosa in EDS patients, and provide an additional phenotypical marker for the condition.

Objective: A 1-day-old baby girl with a cleft of the secondary palate and a soft tissue band connecting the upper and lower jaws and preventing mouth opening was referred to the cleft lip and palate team by her pediatrician. This case represents a further example of an interesting but rare anomaly known as congenital alveolar synechia syndrome that requires early management to allow normal feeding and oral development.

Objective: The pathogenesis and clinical significance of true umbilical cord knots remain controversial. Here, we tested the hypothesis of the presence of congenital oral mucosal changes in newborns with true umbilical cord knots., Study Design: Seven consecutive infants with true umbilical cord knots and 50 gestational age- and sex-matched controls were enrolled. The proportion of oral frenulum abnormalities and the two-dimensional vascular network geometry [fractal dimension, D, at two scales: D(1-46), and D(1-15), with the relative Lempel-Ziv complexity, (L-Z)], were analyzed., Results: Infants with true umbilical cord knots showed significantly higher proportions of mandibular frenulum agenesis compared to controls (p = 0.000006). The oral vascular networks of these infants exhibited a significantly higher D(1-46) and D(1-15) (p < 0.0001, respectively), and higher L-Z values (p < 0.0001) than control networks., Conclusion: These findings indicate the presence of significant congenital oral mucosal changes in newborn infants with true umbilical cord knots, thus suggesting a previously unrecognized association between true umbilical cord knots and a subclinical extracellular matrix disorder., (Copyright 2004 S. Karger AG, Basel)

Congenital adhesions between different parts of the oral cavity rarely occur. These adhesions usually present difficulty in feeding and even respiration soon after birth. In the case presented here the mild form of gum synechia without associated congenital anomaly was treated by excision of the anterior and posterior alveolar bands. Potential jaw and temporomandibular joint development was not compromised and functional problems were eliminated with such a noninvasive procedure.

Physical examination of a 20-year-old male patient suffering from dysphagia revealed an abnormally short and medially displaced palatoglossal arch. The mucosa was released by an inverse V incision, and the palatoglossal muscle was found to be located more laterally and cephalad than its usual insertion, attached to the posterior edge of the hard palate. The muscle was transposed medially and caudally to its normal localization on the soft palate, and the palatoglossal arch was reconstructed by closure of the mucosal incision in an inverse Y manner. The patient's complaint disappeared and no complications were observed in the postoperative period.

A wide range of hereditary anomalies, characterized by hair defects and only partially known from the genetics point of view, involves the teeth and oral mucosa with particular features. Teeth alterations are extremely heterogeneous; very frequently gums, palate, tongue and lips are affected. Waiting for a more comprehensive genetic definition and classification, these anomalies are grouped according to the hair defect (hypotrichosis, hypertrichosis and mixed-type).

Previous studies have demonstrated that keratin K10 plays an important role in mediating cell signaling processes, since the ectopic expression of this keratin induces cell cycle arrest in proliferating cells in vitro and in vivo. However, apart from its well known function of providing epithelial cells with resilience to mechanical trauma, little is known about its possible roles in nondividing cells. To investigate what these might be, transgenic mice were generated in which the expression of K10 was driven by bovine K6beta gene control elements (bK6(beta)hK10). The transgenic mice displayed severe abnormalities in the tongue and palate but not in other K6-expressing cells such as those of the esophagus, nails, and hair follicles. The lesions in the tongue and palate included the cytolysis of epithelial suprabasal cells associated with an acute inflammatory response and lymphocyte infiltration. The alterations in the oral mucosa caused the death of transgenic pups soon after birth, probably because suckling was impaired. These anomalies, together with others found in the teeth, are reminiscent of the lesions observed in some patients with pachyonychia congenita, an inherited epithelial fragility associated with mutations in keratins K6 and K16. Although no epithelial fragility was observed in the bK6(beta)hK10 oral epithelia of the experimental mice, necrotic processes were seen. Collectively, these data show that the carefully regulated tissue- and differentiation-specific patterns displayed by the keratin genes have dramatic consequences on the biological behavior of epithelial cells and that changes in the specific composition of the keratin intermediate filament cytoskeleton can affect their physiology, in particular those of the oral mucosa.

Objective: To report a newborn with van der Woude syndrome, Pierre Robin sequence, and oral synechiae. Pierre Robin sequence is a rare manifestation of van der Woude syndrome as are oral synechiae. We speculate that the oral synechiae may be causally related to the development of Pierre Robin sequence in this patient.

Bannayan-Riley-Ruvalcaba (BRR) syndrome is a rare inherited condition. We describe the protean orofacial manifestations of this syndrome in one family and consider their management. The dental surgeon should be aware of this entity, its orofacial connotations and the possible association with Cowden's syndrome.

The National Birth Defects Prevention Study was designed to identify infants with major birth defects and evaluate genetic and environmental factors associated with the occurrence of birth defects. The ongoing case-control study covers an annual birth population of 482,000 and includes cases identified from birth defect surveillance registries in eight states. Infants used as controls are randomly selected from birth certificates or birth hospital records. Mothers of case and control infants are interviewed and parents are asked to collect buccal cells from themselves and their infants for DNA testing. Information gathered from the interviews and the DNA specimens will be used to study independent genetic and environmental factors and gene-environment interactions for a broad range of birth defects. As of December 2000, 7,470 cases and 3,821 controls had been ascertained in the eight states. Interviews had been completed with 70% of the eligible case and control mothers, buccal cell collection had begun in all of the study sites, and researchers were developing analysis plans for the compiled data. This study is the largest and broadest collaborative effort ever conducted among the nation's leading birth defect researchers. The unprecedented statistical power that will result from this study will enable scientists to study the epidemiology of some rare birth defects for the first time. The compiled interview data and banked DNA of approximately 35 categories of birth defects will facilitate future research as new hypotheses and improved technologies emerge.

The presence of mucogingival deformities often have an impact on patients in terms of esthetics and function. The variety of the conditions makes it difficult to place gingival and alveolar mucosa deformities under a single definition. Mucogingival deformities, as defined in this paper, may be congenital, developmental, or acquired defects. These may occur around natural teeth or implants and in edentulous ridges. They may be localized to soft tissues or be associated with defects in the underlying bone. They may show different degrees of severity and extension. A classification of mucogingival deformities should provide a method for identifying the different conditions in order to improve diagnosis, etiologic identification, research, treatment, and insurance evaluation.

P53 has important regulatory functions in cell growth, differentiation and apoptosis. Here we analyzed the effects of p53 on the growth response of oral mucosal keratinocytes (OMKCs) using p53-deficient (p53-/-) mice. No morphological difference was found between p53-/- and wild-type (p53+/+) oral mucosa. In a long-term culture, p53-/- OMKCs continued to proliferate past the point at which p53+/+ became senescent. The percentage of p53-/- OMKCs in the G0/G1 phase was lower than that of p53+/+ OMKCs. Proliferation of cultured OMKCs induced by epidermal growth factor (EGF) and interleukin-(IL)-1alpha was more strongly enhanced in p53-/- than in p53+/+ mice. Such an enhanced response was not due to increased mRNA expression of growth factor receptors. These data suggest that p53 acts as a modulator of G1 arrest in OMKCs and is also involved in the regulation of responses to EGF and IL-1alpha without affecting the expression of their receptors.

Objective: To describe our experience in treating congenital buccopharyngeal membranes and reflect on lessons learned managing this rare anomaly., Design: Case series of two patients followed 3 and 6 years, respectively., Setting: Two different academic tertiary-care medical centers., Patients: Two patients with congenital buccopharyngeal membranes., Intervention: Multiple pharyngoplasties, including the use of lasers, rotated mucosal flaps, and oropharyngeal stents., Results: The first patient has had her tracheotomy removed, but she still uses a gastrostomy tube and has an expressive speech delay. The second patient can eat well but has persistent speech and airway problems, largely due to his micrognathia., Conclusions: Centrally dehiscent buccopharyngeal membranes are rare and require carefully planned treatment. Associated anomalies worsen the prognosis. We propose a set of recommendations to assist in the management of this difficult problem.

White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologically, the plaques show evidence of hyperproliferation, acanthosis and tonofilament aggregation. These types of pathogenic changes are characteristic of many of the epidermal keratin disorders. Keratins are expressed in pairs by epithelial cells in a tissue and cell specific manner. The major differentiation specific keratins of the buccal mucosa, nasal, esophageal and anogenital epithelia are K4 and K13 (ref. 7). The tissue distribution and nature of the lesions in patients affected by WSN suggested that mutations in K4 and/or K13 might be responsible for this disorder. We have now confirmed this hypothesis and report here a three base-pair (bp) deletion in the helix initiation peptide of K4 in affected members from two families with this condition.

Five pregnant rats were treated during organogenesis with sc injections of acyclovir (50 mg/kg body weight) on days 9, 10 and 11 of pregnancy. The fetuses (N=62) were evaluated on day 20 of gestation and presented decreased body weight as well as delayed differentiation of fetal rat palate epithelium, with increased nuclear volume, decreased cytoplasmic and cellular volumes, decreased epithelial and keratin thicknesses, and increased cellular numerical density.

The purpose of the present investigation was to consider possible aetiological aspects of mandibular tooth agenesis by comparing the pattern of mandibular molar and premolar agenesis with radiological evidence of the mandibular canal. Orthopantomograms from 33 children affected by agenesis of at least four premolar and/or molar teeth in the mandible were investigated. Three children were affected by ectodermal dysplasia. Two anthropological mandibles with absence of mandibular canals were included in the study for comparison. According to the investigation, agenesis should be divided into three groups, based on an analysis of agenesis location, the presence of nerve canals in the jaws, and finally, data on possible bone, skin and oral mucosa abnormalities. The three aetiological groups suggested are: agenesis related to nerve tissue, agenesis related to the oral epithelium, and agenesis related to the supporting tissue.

We report on 3 Brazilian children with short stature, microcephaly, cleft palate, lateral synechiae, and mild mental retardation. One patient was an isolated case and the other had an equally affected brother. Genetic aspects and phenotypic manifestations are compared with those of previous reports with oral synechiae. Recurrence in sibs suggests autosomal recessive inheritance.