Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus

Background: Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Thus, the aim of the study was: a) to demonstrate the clinical and histopathological features of a three-generation Turkish family with oral WSN b) to determine whether KRT4 or KRT13 gene mutation was the molecular basis of WSN. Material and Methods: Out of twenty members of the family ten were available for assessment. Venous blood samples from six affected and five unaffected members and 48 healthy controls were obtained for genetic mutational analysis. Polymerase chain reaction was used to amplify all exons within KRT4 and KRT13 genes. These products were sequenced and the data was examined for mutations and polymorphisms. Results: Varying presentation and severity of clinical features were observed. Analysis of the KRT13 gene revealed the sequence variant Y118D as the disease-causing mutation. One patient revealed several previously unreported polymorphisms including a novel mutation in exon 1 of the KRT13 gene and a heterozygous deletion in exon 1 of KRT4. This deletion in the KRT4 gene was found to be a common polymorphism reflecting a high allele frequency of 31.25% in the Turkish population. Conclusions: Oral WSN may manifest variable clinical features. The novel mutation found in the KRT13 gene is believed to add evidence for a mutational hotspot in the mucosal keratins. Molecular genetic analysis is required to establish correct diagnosis and appropriate genetic consultation (AU)

No disponible

Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series.

PURPOSE: The objective of this case series was to determine the oral, dental and craniofacial features of patients with EvC syndrome. MATERIAL AND METHODS: Eight patients with EvC syndrome were enrolled. A complete family history, pedigree analysis, detailed medical history were collected. Findings of clinical examination, including craniofacial and orodental manifestations, and radiological investigations were thoroughly studied. RESULTS: All eight patients had characteristic face, hypertrophic frenulum, conical and peg-shaped teeth, hypodontia of deciduous and/or permanent teeth and also skeletal dysplasia, small chest, short stature and hypoplastic nails. Additionally dysmorphic filtrum, serrated appearance of gingiva, diastema, enamel hypoplasia, microdontia, taurodontism, single rooted permanent molar, delayed eruption and high caries rate were observed with varying degrees. Cephalometric evaluation revealed skeletal Class III growth pattern in four subjects and Class II growth pattern in one subject. CONCLUSION: Evaluation of craniofacial and orodental anomalies of EvC syndrome is required for accurate differential diagnosis from other congenital syndromes.

Validation of the Turkish version of the Liverpool Oral Rehabilitation Questionnaire version 3 (LORQv3) in prosthetically rehabilitated patients with head and neck cancer.

BACKGROUND: The Liverpool Oral Rehabilitation Questionnaire version 3 (LORQv3) is a measure assessing the impact of oral rehabilitation on patients' health-related quality of life (HRQOL).The aims of the study were to adapt culturally the LORQv3 for Turkish-speaking head and neck cancer patients who had undergone prosthetic rehabilitation and to undertake an initial investigation of its psychometric properties. METHODS: The Turkish version of the LORQv3 was translated and culturally adapted into Turkish, and tested on a sample of 46 head and neck cancer patients who had undergone prosthetic rehabilitation at a university clinic. Patients were categorized into three groups: Patients with maxillary obturator prostheses treated by surgery alone (n = 15); Patients with maxillary obturator prostheses treated by surgery plus radiotherapy, with or without chemotherapy (n = 23); and, Nasopharyngeal cancer patients without maxillary defects wearing conventional dental prostheses who had been treated by radiotherapy with or without chemotherapy (n = 8). Data were collected through clinical examinations and self-reported questionnaires, including socio-demographic characteristics, the LORQv3, and the University of Washington Quality of Life questionnaire version 4 (UW-QOLv4). The psychometric evaluation included validity (content, face, construct, and criterion) and reliability (internal consistency and test-retest). RESULTS: All sections of the LORQv3 showed satisfactory internal consistency, with Cronbach's alpha between 0.71 to 0.82. Kappa statistics showed moderate to perfect test-retest reliability for the 33 LORQv3 items. We found significant negative correlations between the LORQv3 and the UW-QOL v4 for some related items. The LORQv3 also identified differences in responses among patient groups, supporting its construct and criterion validity. CONCLUSIONS: This study provides initial evidence in support of the validity and reliability of the Turkish version of LORQv3 in prosthetically rehabilitated patients with head and neck cancer; it could be used in clinical practice in Turkey.

Clinical and radiological evaluation of inverse impaction of supernumerary teeth

Objective: To describe the clinical and radiological features of children with inverted supernumerary teeth. Study Design: Thirty eight patients with inverted supernumerary teeth (ST) were enrolled in this descriptive and restrospective study. Data from patient records including age, gender, status of dentition, number of ST, number of ST in inverted position, coexistence of ST in inverted and normal direction of eruption, location, orientation, morphology, clinical complications, management and radiography were assessed during 3-years period. Results: Thirty eight patients with a mean age of 9.10±1.97 years (range:6-13) and a strong male preponderance of 3.7:1 (male:30, female:8) had a total of 69 ST, of which 41 were in inverted position. Thirty five patients had one (92.1%) inverted tooth, whereas 3 patients had two inverted teeth per case (7.9%). All cases were located in the maxilla. Midline was the most frequent site for the single inverted supernumerary tooth in 18 (47.4%) patients, followed equally by the right and left premaxillary region in 10 patients each (26.3%). Regarding morphology, 30 patients had conical (78.9%) and 8 (21.1%) had incisiform ST. No tuberculate shaped ST was detected. There was no statistically significant difference between number of inverted teeth and delayed tooth (..) (AU)

Clinical and radiological evaluation of inverse impaction of supernumerary teeth.

OBJECTIVE: To describe the clinical and radiological features of children with inverted supernumerary teeth. STUDY DESIGN: Thirty eight patients with inverted supernumerary teeth (ST) were enrolled in this descriptive and restrospective study. Data from patient records including age, gender, status of dentition, number of ST, number of ST in inverted position, coexistence of ST in inverted and normal direction of eruption, location, orientation, morphology, clinical complications, management and radiography were assessed during 3-years period. RESULTS: Thirty eight patients with a mean age of 9.10 ± 1.97 years (range:6-13) and a strong male preponderance of 3.7:1 (male:30, female:8) had a total of 69 ST, of which 41 were in inverted position. Thirty five patients had one (92.1%) inverted tooth, whereas 3 patients had two inverted teeth per case (7.9%). All cases were located in the maxilla. Midline was the most frequent site for the single inverted supernumerary tooth in 18 (47.4%) patients, followed equally by the right and left premaxillary region in 10 patients each (26.3%). Regarding morphology, 30 patients had conical (78.9%) and 8 (21.1%) had incisiform ST. No tuberculate shaped ST was detected. There was no statistically significant difference between number of inverted teeth and delayed tooth eruption, diastema, local malocclusion, palatinal swelling (p>0.05). There was no statistically significant difference between complications and age (p>0.05). Surgical removal at the time of diagnosis with subsequent follow-up during completion of permanent dentition was the treatment approach in all cases. CONCLUSIONS: Thorough clinical examination followed by a comprehensive radiographic screening is the crucial determinant of an accurate diagnosis of an impacted ST. Early diagnosis and timely management are key factors to prevent or minimize the complications, which may influence function and esthetics of the teeth and even psychological condition of the growing child.

Implant-assisted dental rehabilitation of a patient with maxillary rhabdomyosarcoma.

Rhabdomyosarcoma is a malignant, soft tissue neoplasm consisting of cells derived from the primitive mesenchyme that exhibit a profound tendency to undergo myogenesis. Multimodality therapy for tumors in the head and neck regions has a significant effect on maxillofacial skeletal growth, dental development, and the whole ecologic system of the oral cavity. Here we aimed to discuss the influence of head-neck cancer therapy in pediatric patients with long-term follow-up and present a case with implant-assisted dental rehabilitation and also functional and aesthetic outcomes.

The evaluation of fibrin sealants and tissue adhesives in oral surgery among patients with bleeding disorders.

OBJECTIVE: The aim of this study was to evaluate the efficiency of two local hemostatic agents administered with apreoperative dose of replacement therapy in patients with bleeding disorders undergoing oral surgery. MATERIAL AND METHODS: The study included 21 patients that were randomly divided into 3 groups. Patients in Group1 (n = 7) received preoperative replacement therapy and postoperative fibrin sealant applied to the surgical site. Patientsin Group 2 (n = 7) received preoperative replacement therapy and postoperative tissue adhesive applied to the surgicalsite. Patients in Group 3 (n = 7) were given replacement therapy pre- and postoperatively. RESULTS: Postoperative bleeding was not observed in 17 of the 21 patients, including 5 in Group 1 (71.42%), 6 in Group2 (85.71%), and 6 in Group 3 (85.71%). Hemorrhagic complications occurred in only 4 of the 21 patients. CONCLUSION: The use of fibrin sealant and tissue adhesive was beneficial, as they reduced the level of factor concentratesused for replacement therapy and resulted in rapid hemostasis at the surgical site, facilitating the ability to performserial surgical procedures concurrently.

Metastatic mandibular neuroblastoma: a rare cause of tooth mobility.

Neuroblastoma (NBL), a malignant embryonic tumor derived from neural crest cells, is the most common tumor worldwide among children less than 1 year of age. Metastasis to the mandible is uncommon. This article reports the case of a 15-month-old male diagnosed with NBL with bone metastasis including the mandible which resulted in severe tooth mobility. Dentists or pediatricians should consider the primary or metastatic tumors of the maxillofacial region in the differential diagnosis in children presenting with premature loss of teeth related to tooth mobility.

Flat-type verruciform xanthoma of the tongue and its differential diagnosis.

We present herein a case of oral verruciform xanthoma (VX) in order to discuss this relatively rare entity in light of current information. A 38-year-old woman, non-smoker, presented with a lesion at the left ventral surface of the tongue. The lesion is characterized by a mild epithelial proliferation and sub-epithelial accumulation of foam cells, which were positive for CD68, and negative for CD1a and S-100 protein. Human papillomavirus (HPV) DNA typing for low, intermediate, and high-risk groups was also performed and no etiological link between HPV and this lesion was found. The past medical history of the patient was unremarkable and further investigations did not reveal any biochemical abnormalities or systemic disease. Verruciform xanthoma is an uncommon benign lesion of undetermined etiology. It is a superficial normolipemic xanthoma, probably reflecting a multifactorial reactive and dystrophic process unrelated to HPV. It is noteworthy that in a small and superficial biopsy, xanthoma cells may be scanty and can be missed, especially if the pathologist is unfamiliar with the existence of this uncommon lesion. Its clinical and pathological recognition and correct diagnosis is critical because VX can occur in conjunction with other systemic and cutaneous inflammatory diseases; therefore, it necessitates further clinical assessment.

Maxillofacial and dental manifestations in a patient with mandibulo-acral dysplasia.

Mandibulo-acral dysplasia (MAD) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature. This report presents a patient with MAD, suffering from difficulty in mastication and speech, together with limited lip closure and aesthetic problems related to the clinical outcomes of the syndrome. The aim of reporting this case is to detail the first widely determined dental and maxillofacial abnormalities of a rare syndrome, mandibulo-acral dysplasia, and to contribute to the data regarding the etiology of consanguinity.