Oral Lesions as the Primary Manifestations of Behçet's Disease: The Importance of Interdisciplinary Diagnostics-A Case Report.

BACKGROUND: Behçet's disease (BD) is a rare chronic auto-inflammatory systemic disease with non-specific oral manifestations, categorised as generalised variable vessel vasculitis that requires an interdisciplinary approach to diagnose due to its phenotypic heterogeneity. Whilst the oral lesions that reoccur in BD underpin the complex diagnostic process, the crucial role of dental professionals is highlighted in a case report summarised herein. We present a case of a 47-year-old male referred to the Oral Medicine Department by a rheumatologist after previous hospitalization for thrombosis of the iliac vein and inferior vena cava. He had elevated inflammatory C-reactive protein biomarker and an increased erythrocyte sedimentation rate. Recurrent episodes of folliculitis, oral and genital ulcers were reported. Clinical examination revealed multiple ulcerations in the oral mucosa. The complementary, histopathological analysis performed to rule out other disorders, based on excisional biopsy, showed non-keratinised stratified squamous epithelium with areas of exocytosis and ulceration. The connective tissue presented an intense mixed inflammatory infiltrate, congested blood vessels, haemorrhage, vasculitis, and HLA-B genotyping identified the expression of HLA-B15, further supporting the BD diagnosis. Treatment was initiated with colchicine, prednisolone, and weekly subcutaneous administration of methotrexate and resulted in the complete remission of oral lesions and no recurrence of other manifestations. CONCLUSIONS: This BD case report emphasizes the importance of a multidisciplinary approach in diagnosing BD, including the use of histopathological assessment and genetic profiling. It highlights the significance of thorough intraoral assessment and referral to a multidisciplinary team for diagnosis. The oral manifestations of BD as the primary symptoms often indicate underlying major systemic pathologies. The authors stress the need for a structured diagnostic algorithm to facilitate timely and effective management of BD.

Gingival and alveolar mucosal reactive hyperplastic lesions: a retrospective clinical and histological study of 996 cases

Background: gingival/alveolar mucosal reactive hyperplastic lesions (GRHL), including fibrous hyperplasia (FH), pyogenic granuloma (PG), peripheral ossifying fibroma (POF) and peripheral giant cell lesion (PGCL), are a common group of oral diseases. The aim of the present study was to access the frequency and distribution of the clinical and histological features of these disorders in a Brazilian population. Material and methods: all specimens diagnosed as GRHL in three Oral Pathology laboratories were selected for the study. Clinical information was retrieved from the laboratory biopsy forms and hematoxylin and eosin stained histological slides were reviewed for analysis of the histological characteristics. Results: final sample was composed of 996 specimens, including 463 FH (47%), 280 PG (28%), 183 POF (18%) and 70 PGCL (7%). Females were more affected by FH, PG, and POF, and most cases affected adults with mean ages ranging from 40 to 53 years. FH, PG, and POF were more common in the upper gingiva/alveolar mucosa. Most PG, POF and PGCL were pedunculated, in contrast with FH (p<0.001). PG, FH and POF were mostly red or normal mucosal in color, while PGCL were mostly red/purple (p<0.001). PGCL were larger, followed by POF, FH and PG (p<0.001). Some histological features were characteristically found in some conditions, but they were also encountered in other lesions with variable frequencies. Conclusions: Oral medicine specialists, oral pathologists and periodontists are usually the professionals in contact with patients presenting GRHL and it is of upmost relevance that they should be familiarized with their clinical and histological profile. (AU)

Preliminary Assessment of the Quality of Life and Daily Burden of Caregivers of Persons with Special Needs: A Questionnaire-Based, Cross-Sectional Survey.

Caregivers of persons with special needs (PSN) experience a variety of burdens and elevated levels of stress and anxiety throughout their lives, leading to a physical, psychological, emotional, social, and financial overload. This analytical study with a cross-sectional design and a quantitative approach aimed to appraise quality of life (QoL), reflecting the daily workload of informal family caregivers of PSN. METHODS: Four structured, validated questionnaires were utilised: sociodemographic, WHOQOL-bref, Zarit Burden Interview, and Functional Independence Measure Scale in 60 anonymous volunteered respondents. RESULTS: The informal caregivers were middle-aged mothers (81.7%), married (55%), stay-at-home spouses (60%) with high school degrees (51.6%), providing a care for their relatives with special needs for more than 20 years (41.8%). Most of the PSN were diagnosed with autistic spectrum disorder (ASD, 61.8%), had a wide spectrum of intellectual deficits, and required constant support for their basic needs. They were mainly adolescent males without physical limitations (83.4%) on disorder-specific medications (90%). The study revealed that those caregivers had a median perception of QoL considering four essential domains, with a highest score recorded for the physical domain (64.3 +/- 16.1 SD). A moderate burden level prevailed, revealing neither a correlation between the workload expressed by caregivers and the patient's functional capacity, nor in the performance of daily self-care tasks (Spearman correlation test p > 0.05), apart from the environmental domain (mild correlation = 0.335, p < 0.05). CONCLUSIONS: The reported average level of overload associated with QoL of informal caregivers exists, affecting a vast proportion of the respondents. The absence of a direct association between workload and the functional capacity/daily self-care tasks can be related to the significant personal dedication of family caregivers, regardless of their socioeconomic status.

Dental Treatment under General Anesthesia in Patients with Special Needs Provided by Private and Public Healthcare Services-A Retrospective, Comparative Study.

In special care dentistry, general anesthesia (GA) is considered as an alternative option to facilitate treatment for uncooperative patients with special needs (PSN) who require invasive dental interventions. OBJECTIVE: to evaluate the profile of dental treatment procedures performed and the characteristics of PSN who underwent dental treatment under GA, provided by private and public healthcare providers. METHODS: A retrospective, observational study involving a sample of 100 PSN treated in hospital and specialist secondary care settings. Demographic data and clinical information were collected. The analysis of data was performed using descriptive analysis and frequency statistical tests. RESULTS: out of 100 participants, 63% of the PSN who received care in the private sector and the remaining 37% of PSN registered with public-funded care providers, aged 6 to 80 years old, were treated under GA. Autistic spectrum disorder was the most common medical diagnosis recorded (33%). More than half (52%) of the PSN treated by private care providers sought specialist care in an outpatient setting prior to GA vs. 5% of the PSN treated by public-funded providers. The utilization of sedation prior to GA was more common in the private sector. A vast majority (86%) of all subjects underwent multiple dental extractions (86%) and restorations (62%). CONCLUSIONS: comprehensive dental care under GA, which composes an integral part of special care dentistry, can be safely provided in a hospital setting, in both private and public sectors. While early intervention using sedation and behavioral management partially mitigates the need for dental care under GA, the vast majority of PSN may require dental treatment under GA in future to facilitate complex dental care.

Oral candidiasis in patients with haematological diseases: Diagnosis through clinical and cytopathological examinations.

OBJECTIVE: This study is the first to analyse the prevalence of oral candidiasis in onco-haematological patients by physical and oral cytopathological examinations. METHODS: This is a cross-sectional and observational study with a retrospective sample composed of participants hospitalised in the haematology clinic, who were diagnosed with haematological diseases. All participants received an oral mucosal examination and scraping from oral mucosa. RESULTS: Of the 62 participants, 56.5% were male and 82.3% were white, with mean age of 57 years. Lymphoma was the most common haematological disease (24.2%). In total, 48.4% of the sample was diagnosed with oral candidiasis. Of the participants with oral candidiasis, 13 (21.0%) had a clinical diagnosis. Cytopathological analysis revealed 17 more (27.4%) cases without oral lesions indicative of candidiasis. Erythematous candidiasis (P = 0.02), pseudomembranous candidiasis (P < 0.001), clinical candidiasis (P < 0.001), fibrous hyperplasia (P = 0.032), and coated tongue (P = 0.012) showed a correlation with a candidiasis cytopathological diagnosis. CONCLUSIONS: Oral candidiasis is common among patients with haematological disease, and the cytopathological examination proved to be a useful tool, confirming clinical diagnosis of candidiasis and identifying subclinical cases. These data are of great relevance considering the possible complications that these patients may develop, such as longer hospitalisations, worsening of the general condition or even death due to candidemia.

Applicability of the Geographic Tongue Area and Severity Index among Healthcare Professionals: A Cross-Sectional Clinical Validation of a Newly Developed Geographic Tongue Scoring System.

Geographic tongue (GT) is a chronic condition of unknown aetiology, with no defined parameters to establish the protocol for evidence-based management. Validation of a newly developed and proposed clinical index to assess the severity of GT could assist in its diagnosis, especially in cases associated with systemic dermatological diseases in the form of psoriasis. OBJECTIVE: To verify the applicability of the geographic tongue area and severity index (GTASI). This involved healthcare professionals from different specialties to evaluate the usefulness of the GTASI in supporting GT classification, as well as the follow-up process. METHODS: One hundred cases of previously diagnosed GT were initially evaluated by three independent, experienced researchers/clinicians to obtain a standardised classification baseline. Subsequently, nine cases of GT were selected, three cases for each category-mild, moderate and severe. These stages were professionally evaluated by 51 healthcare professionals from three groups: 17 dentists (33%), 22 oral medicine specialists (43%) and 12 specialist dermatologists (24%) during a cross-sectional survey. RESULTS: The quantitative and qualitative assessment based on experts' opinions in the cross-sectional survey demonstrated an acceptable, similar level of GT clinical diagnosis (p > 0.05), with coherence between the various groups of professionals critically appraising the GTASI. An apparent divergence was observed for the moderate GT category, as well as in the group of less experienced evaluators. CONCLUSION: Whilst the validation of GTASI applicability was successfully executed, the general dental practitioners, specialists in oral medicine and dermatologists were equally capable of correct GT diagnosis and appropriately rating its severity. These coherent results were especially replicated among the experienced clinicians. The validation of the newly proposed index confirmed its reliability as a feasible instrument in oral medicine, with the prospect of its wider implementation in clinical practice.

Atypical oral candidiasis in a psoriatic patient during targeted immunotherapy with an interleukin 17 inhibitor (secukinumab).

BACKGROUND: Secukinumab is a human monoclonal antibody immunoglobulin that neutralises interleukin (IL)-17A, and as such, is effective in the treatment of psoriasis. However, as IL-17A is essential in protection against fungal infections, patients treated with this drug may develop candidiasis. This report presents a case of atypical oral candidiasis occurring during targeted drug immunotherapy with an interleukin 17 (IL-17) inhibitor (secukinumab), with the aim of emphasisinge the necessity of periodical oral health assessment and monitoring. It provides a rational clinical approach to therapeutic protocol in the treatment of side effects associated with novel medications for autoimmune diseases. CASE PRESENTATION: Symptomatic tongue lesions were observed in a 50-year-old female patient on a monthly systemic treatment of 300 mg of secukinumab, which appeared after 60 days of using the medication. Two inconclusive biopsies and an unsuccessful application of oral corticosteroids made the diagnostic process challenging. Papillae on the back of the tongue were atrophied, forming a well-defined erythema and white non-detachable plaques on the lateral border of the tongue. Cytopathological and histopathological exam results were compatible with a diagnosis of oral candidiasis. Topical antifungal medication led to subsequent regression of the tongue lesions. During asymptomatic period and follow up for 7 months, a reduced monthly dose 150 mg of secukinumab was administered. CONCLUSIONS: Patients undergoing treatment with IL-17 blockers, such as secukinumab, should be carefully monitored in order to avoid oral side effects resulting from the use of this medication.

Prevalência das lesões orais em idosos atendidos no serviço de estomatologia do Instituto de Saúde de Nova Friburgo ­ UFF/RJ / Prevalence of oral lesions in the elderly treated at the stomatology service of the Instituto de Saúde de Nova Friburgo ­ UFF/RJ

Objetivo: realizar um levantamento epidemiológico acerca das alterações na mucosa oral dos pacientes acima de 60 anos, atendidos no serviço de Estomatologia do Instituto de Saúde de Nova Friburgo - UFF/RJ, no período de 2013 a 2018, e estabelecer as principais causas e formas de tratamento. Materiais e Métodos: estudo retrospectivo e observacional, com análise descritiva, através da coleta de dados nos prontuários: idade, sexo, cor da pele, ocupação, lesão e sua localização. Resultados: foram analisados 640 prontuários, destes, 395 (61,7%) apresentaram lesão, sendo 132 (20,6%) deles com mais de uma lesão. Dos 395 com lesão, 57,0% (225) eram do sexo feminino. A cor de pele branca representou 56,7% (224), porém 107 prontuários não apresentaram essa informação. A amostra contou com pacientes de 60 a 91 anos, com média de 65 anos. No total foram encontradas 613 lesões. Queilite actínica foi a mais prevalente 15,5% (95), seguida da estomatite protética 14,0% (86) e hiperplasia fibrosa 13,4% (82). Conclusão: os indivíduos idosos do presente estudo apresentaram alta frequência de lesões orais, sendo a queilite actínica, estomatite protética e hiperplasia fibrosa as mais comuns.

Objective: to carry out an epidemiological survey of oral mucosa lesions of patients aged over 60 years, attended at the Stomatology Service of the Nova Friburgo Health Institute - UFF/RJ, from 2013 to 2018, and to establish the main etiologies and forms of treatment. Materials and Methods: retrospective and observational study through data collection from medical records as: age, gender, skin color, occupation, lesion and its location. Results: 640 medical records were analyzed, of which 395 (61.7%) had lesions, 132 (20.6%) had more than one lesion. Of the 395 with injuries, 57.0% (225) were female. White skin color represented 56.7% (224), but 107 medical records did not present this information. The sample included patients aged 60 to 91 years, with a mean of 65 years. In total, 613 injuries were found. Actinic cheilitis was the most prevalent 15.5% (95), followed by prosthetic stomatitis 14.0% (86) and fibrous hyperplasia 13.4% (82). Conclusion: the elderly individuals in the present study had a high frequency of oral lesions, with actinic cheilitis, denture stomatitis and fibrous hyperplasia being the most common.

Evaluation of sclerotherapy with different dilutions of ethanolamine oleate in the treatment of oral varicose veins / Avaliação da escleroterapia com diferentes diluições de oleato de etanolamina no tratamento de varizes orais

ABSTRACT Objective: This study aim to evaluate the effectiveness of sclerotherapy protocols with different dilutions of ethanolamine oleate in the treatment of oral varicose veins. Methods: Clinical data and images of 14 cases treated with sclerotherapy were analyzed and descriptive analyses were performed. Results: Females (58%) and white skin color (83%) prevailed. Age varied between 14 and 79 years, with 47 years on mean (SD = 19 years). The most common anatomical locations were the buccal mucosa and lower lip. The final volume of the sclerosing agent (Ethamolin®) ranged from 0.4 to 4.3ml and the concentration ranged from 5% to 100%. The number of sessions ranged from 1 to 12 and the number of points per application was 1 to 7 points. Pain and edema were seen in 43% and 29% of patients, respectively. Conclusion: Sclerotherapy with monoethanolamine oleate diluted in anesthetic is a safe and effective option for the treatment of this lesion, regardless of concentration. However, edema and pain seem to be directly associated with increased drug concentration.

RESUMO Objetivos: Este estudo tem como objetivo avaliar a efetividade de protocolos de escleroterapia com diferentes diluições de oleato de etanolamina no tratamento de varizes orais. Métodos: Dados clínicos e imagens de 14 casos tratados com escleroterapia foram avaliados, sendo realizado análises descritivas. Resultados: As mulheres (58%) e a cor de pele branca (83%) prevaleceram na amostra. A idade variou entre 14 e 79 anos, com média de 47 anos (DP = 19 anos). As localizações anatômicas mais comuns foram a mucosa jugal e o lábio inferior. O volume final do agente esclerosante (Ethamolin®) variou de 0,4 a 4,3ml e a concentração variou de 5% a 100%. O número de sessões variou de 1 a 12 e o número de pontos por aplicação foi de 1 a 7 pontos. Dor e edema foram observados em 43% e 29% dos pacientes, respectivamente. Conclusão: A escleroterapia com oleato de monoetanolamina diluído em anestésico é uma opção segura e eficaz para o tratamento das varizes orais, independentemente da concentração. No entanto, edema e dor parecem estar diretamente associados ao aumento da concentração do medicamento.

Geographic tongue severity index: A new and clinical scoring system.

OBJECTIVE: This study was designed to develop a severity index for geographic tongue (GT) based on the Psoriasis Area and Severity Index. STUDY DESIGN: This cross-sectional observational study, with a retrospective sample of 100 participants, included 5 photographs of each case (dorsum, right border, left border, apex, and lingual belly), totaling 500 images of GT, which were evaluated by 3 experienced researchers in the area of GT and psoriasis. At the end of the analysis, GT was classified as mild, moderate, or severe. RESULTS: Of the 100 patients, white women were most prevalent, accounting for 53% of cases. Of these participants, 34% had psoriasis and 24% reported a burning sensation. The values of the proposed new index obtained at time 1 (0.855) and time 2 (0.819) presented low variability, and intra- and interrater correlations produced satisfactory values ranging from 0.950 to 0.898 and 0.898 to 0.850, respectively. CONCLUSION: The new index, Geographic Tongue Area and Severity Index, provides a better characterization of GT by assessing the severity of lesions in an easy and reliable manner, and it is indicated as a first step for interpreting the condition in clinical routines and clinical trials.

Peripheral giant cell granuloma associated with a dental implant.

BACKGROUND: Peripheral giant cell granuloma (PGCG) is an uncommon pathology that affects gingival or alveolar mucosa. Although PGCG can be associated with dental implants, little is known about this lesion and implant osseointegration as well as its etiopathogenesis and the treatments available. This study sought to report a rare case of PGCG associated with dental implant, emphasizing its clinical and histopathological aspects. CASE PRESENTATION: A 53-year-old man had an exophytic, reddish lesion, around a crown attached to a dental implant located in the left mandible. Radiographically, there was bone loss around the implant. After excisional biopsy, histological examination revealed a submucosal proliferation of multinucleated giant cells rendering the diagnosis of peripheral giant cell granuloma. Patient has been under follow-up for 6 months with no recurrence. CONCLUSIONS: Peri-implant lesions must be completely removed to prevent recurrence of PGCG and implant failure, even in cases suspected to be reactive. Besides, histological examination must be performed on all peri-implant reactions to achieve the appropriate diagnosis and, consequently, the best treatment and follow up.

Contribution of benzodiazepines in dental care of patients with special needs.

BACKGROUND: Conscious sedation in dental treatment of patients with special needs (PNEs) has the purpose of controlling events such as anxiety and fear, as well as promoting muscle relaxation and mastery of uncoordinated movements. Benzodiazepines (BZDs) are among the most used drugs due to their anxiolytic, hypnotic and sedative properties. The objective of this investigation is to demonstrate a study on the contribution of conscious sedation with BZD in PNEs. MATERIAL AND METHODS: The study included 40 PNEs, non-collaborators, submitted to conscious oral sedation with Midazolam (0.5 mg/kg) for dental treatment, receiving vital signs monitoring in the pre, trans and postoperative periods. RESULTS: Male patients were more frequent with 70% of the cases, with a mean age of 18 years. As for medical diagnosis, autism and mental deficiency were the most prevalent. The most performed procedures were restoration (32%) and exodontia (30%). There was a statistically significant reduction in systolic and diastolic blood pressure parameters (p<0.05) in the transoperative and postoperative periods when compared to the preoperative period. Conscious sedation with BZDs resulted in 83% positive responses. CONCLUSIONS: The results demonstrate that this technique is safe and effective, and can be used in outpatient care for PNEs. However, the risk/benefit ratio should be correctly evaluated. Key words:Special patients, oral sedation, benzodiazepines, midazolam, dental care.

Evaluation of the Th17 pathway in psoriasis and geographic tongue.

BACKGROUND: Psoriasis is a skin-articular disease with unclear etiopathogenesis. It has been suggested that the disease is immune-mediated by T-lymphocytes, predominantly Th17 cells. Similar to psoriasis, geographic tongue is an inflammatory disease with participation of Th17 cells and direct correlation with psoriasis. OBJECTIVE: To investigate and compare the inflammatory responses and the Th17 pathway in psoriasis and geographic tongue. METHODS: This was a cross-sectional study with 46 participants that were categorized into three groups: (A) patients with psoriasis vulgaris; (B) patients with geographic tongue and psoriasis; (C) patients with geographic tongue without psoriasis. All patients underwent physical examination, and a skin and oral biopsy for histopathological examination and immunohistochemical analysis with anti-IL6, anti-IL17, and anti-IL23 antibodies. RESULTS: Histological analysis of all lesions showed mononuclear inflammatory infiltrate. However, moderate intensity was prevalent for the patients with geographic tongue and psoriasis and geographic tongue groups. Immunopositivity for the antibodies anti-IL6, anti-IL17, and anti-IL23 revealed cytoplasmic staining, mainly basal and parabasal, in both psoriasis and geographic tongue. Regarding IL-6, in patients with geographic tongue and psoriasis cases the staining was stronger than in patients with geographic tongue without psoriasis cases. IL-17 evidenced more pronounced and extensive staining when compared to the other analyzed interleukins. IL-23 presented similar immunopositivity for both geographic tongue and psoriasis, demonstrating that the neutrophils recruited into the epithelium were stained. STUDY LIMITATION: This study was limited by the number of cases. CONCLUSION: The inflammatory process and immunostaining of IL-6, IL-17, and IL-23 were similar in geographic tongue and psoriasis, suggesting the existence of a type of geographic tongue that represents an oral manifestation of psoriasis.

Evaluation of the Th17 pathway in psoriasis and geographic tongue

Abstract Background: Psoriasis is a skin-articular disease with unclear etiopathogenesis. It has been suggested that the disease is immune-mediated by T-lymphocytes, predominantly Th17 cells. Similar to psoriasis, geographic tongue is an inflammatory disease with participation of Th17 cells and direct correlation with psoriasis. Objective: To investigate and compare the inflammatory responses and the Th17 pathway in psoriasis and geographic tongue. Methods: This was a cross-sectional study with 46 participants that were categorized into three groups: (A) patients with psoriasis vulgaris; (B) patients with geographic tongue and psoriasis; (C) patients with geographic tongue without psoriasis. All patients underwent physical examination, and a skin and oral biopsy for histopathological examination and immunohistochemical analysis with anti-IL6, anti-IL17, and anti-IL23 antibodies. Results: Histological analysis of all lesions showed mononuclear inflammatory infiltrate. However, moderate intensity was prevalent for the patients with geographic tongue and psoriasis and geographic tongue groups. Immunopositivity for the antibodies anti-IL6, anti-IL17, and anti-IL23 revealed cytoplasmic staining, mainly basal and parabasal, in both psoriasis and geographic tongue. Regarding IL-6, in patients with geographic tongue and psoriasis cases the staining was stronger than in patients with geographic tongue without psoriasis cases. IL-17 evidenced more pronounced and extensive staining when compared to the other analyzed interleukins. IL-23 presented similar immunopositivity for both geographic tongue and psoriasis, demonstrating that the neutrophils recruited into the epithelium were stained. Study limitation: This study was limited by the number of cases. Conclusion: The inflammatory process and immunostaining of IL-6, IL-17, and IL-23 were similar in geographic tongue and psoriasis, suggesting the existence of a type of geographic tongue that represents an oral manifestation of psoriasis.

Quantification of histopathological changes in patients with psoriasis before and after phototherapy.

BACKGROUND: One of the most used resources for the treatment of psoriasis is ultraviolet radiation (UV) with psoralens (PUVA) and narrow-band UV (UVB-NB 311-312 nm). Although many researchers have assessed the histopathological effects of this therapy modality, none used a morphological classification system specific to psoriasis. PURPOSE: To assess the clinical and histopathological response in the phototherapy treatment of plaque psoriasis with PUVA and UVB-NB with use of PASI and TROZAK. METHODS: Histopathological changes of plaque psoriasis were quantified with help of the grading system for psoriasis-Trozak in 20 patients of both sexes, before and after 32 PUVA phototherapy sessions (10 patients-GPUVA) and UVB-NB (10 patients-GUVB-NB). The severity and extension of psoriasis was evaluated through PASI. The slides stained with hematoxylin and eosin were scanned in an Aperio CS2 scanner (Leica Biosystems) and evaluated through the software ImageScopeTM (Aperio Technologies). Statistical analysis was performed with the use of the program SPSS 22.0, with application of the Wilcoxon and Mann-Whitney tests. RESULTS: All patients presented improvement in psoriatic plaques with decrease in PASI after treatment (P < 0.01) and significant reduction in histopathological changes in psoriasis from 15.4 ± 1.7 to 3.7 ± 3.2 (P < 0.01) in group GPUVA and from 13.2 ± 1.7 to 4.9 ± 5.2 (P < 0,01) in group GUVB-NB. CONCLUSIONS: Phototherapy, regardless of type, is an effective treatment for moderate and severe psoriasis, with possibility of being quantified clinically by PASI and histopathologically by Trozak.

Variable expressivity and novel PTEN mutations in Cowden syndrome.

Cowden syndrome (CS) is a phosphatase and tensin homolog gene (PTEN)-associated condition characterized by multiple mucocutaneous hamartomas and an increased risk of malignancies. We reported an isolated case and another of several individuals in one family affected by CS. The isolated case showed typical features, including fibrocystic breast disease, benign thyroid nodules, and multiple papillomatous lesions in the face and oral cavity, and the cause was a novel nonsense mutation-guanine (G) to thymine (T) transition at position 940 (c.940 G>T)-in PTEN. In the family, the proband showed erythema nodosum, duodenal ulcer, intestinal polyps, cervical lipoma, renal cysts, and glaucoma, whereas multiple members of her family were found to have intestinal polyps, and a sister had been diagnosed with breast cancer at early age. An intronic mutation-T>G transition at the +32 position of intron 8 (c.1026+32 T>G)-was found in this family, with in silico analysis revealing the creation of a new donor splice site. This study confirmed the involvement of PTEN in CS and the variable clinical expressivity of disease.

Prevalence and heritability of psoriasis and benign migratory glossitis in one Brazilian population

Abstract: Background: An oral condition associated to psoriasis is benign migratory glossitis. The review of the literature does not show any publication about heritability in both soriasis and benign migratory glossitis and prevalence of psoriasis in the Brazilian population. Objective: This research was carried out in order to determine the prevalence of psoriasis and benign migratory glossitis in the Brazilian population from a Brazilian sample, as well as the heritability in these conditions. Methods: Six thousand patients were studied from the records of the outpatient dermatology department. The sample had 129 patients with cutaneous psoriasis, 399 with benign migratory glossitis without psoriasis and a control group with 5,472 patients. After data collection, the statistical analysis was made using Woolf, Chi-square and Falconer tests. Results: The prevalence of psoriasis was 2.15% and the benign migratory glossitis was 7.0%. The prevalence of benign migratory glossitis in the psoriasis group was high (16.3%), and that was statistically significant. Family history in the psoriasis group was 38% for the condition itself and 2,75% for benign migratory glossitis and in the benign migratory glossitis group was 17.54% for the condition itself and 1.5% for psoriasis. The study of heritability was 38.8% for psoriasis and 36.6% for benign migratory glossitis, both with medium heritability. Study limitations: This study was only in the state of São Paulo. Conclusion: This is the first publication that quantifies how much of these conditions have a genetic background and how important the environmental factors are in triggering them.

Prevalence and heritability of psoriasis and benign migratory glossitis in one Brazilian population.

BACKGROUND: An oral condition associated to psoriasis is benign migratory glossitis. The review of the literature does not show any publication about heritability in both soriasis and benign migratory glossitis and prevalence of psoriasis in the Brazilian population. OBJECTIVE: This research was carried out in order to determine the prevalence of psoriasis and benign migratory glossitis in the Brazilian population from a Brazilian sample, as well as the heritability in these conditions. METHODS: Six thousand patients were studied from the records of the outpatient dermatology department. The sample had 129 patients with cutaneous psoriasis, 399 with benign migratory glossitis without psoriasis and a control group with 5,472 patients. After data collection, the statistical analysis was made using Woolf, Chi-square and Falconer tests. RESULTS: The prevalence of psoriasis was 2.15% and the benign migratory glossitis was 7.0%. The prevalence of benign migratory glossitis in the psoriasis group was high (16.3%), and that was statistically significant. Family history in the psoriasis group was 38% for the condition itself and 2,75% for benign migratory glossitis and in the benign migratory glossitis group was 17.54% for the condition itself and 1.5% for psoriasis. The study of heritability was 38.8% for psoriasis and 36.6% for benign migratory glossitis, both with medium heritability. STUDY LIMITATIONS: This study was only in the state of São Paulo. CONCLUSION: This is the first publication that quantifies how much of these conditions have a genetic background and how important the environmental factors are in triggering them.