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Background White sponge nevus is a rare autosomal dominant disorder that affects the non-keratinised stratified squamous epithelium. Mutations in the genes that encode mucosa-specific keratins 4 and 13 are strongly linked to the manifestation of white sponge nevus. This study involved mutational analysis of the genes encoding keratin-4 and keratin-13 in two Swedish families with white sponge nevus. Methods The diagnosis of white sponge nevus was based on disease history, clinical characteristics of the lesions and, in the majority of the cases, histopathological examination. Samples were collected from the affected buccal mucosa using buccal swabs. DNA was subsequently extracted and amplified using Touch-Down-PCR. The keratin-4 and -13 genes were sequenced and a genetic analysis was performed. Results A novel heterozygous missense mutation was identified in exon 1A of the keratin-4 gene in Family 2. In addition, previously reported heterozygous missense mutations were identified in the keratin-4 (E449K, A72V, Q156R, R208H) and keratin-13 (L115P) genes in both families. Conclusion We describe a novel heterozygous missense mutation in the keratin-4 gene of a Swedish family with white sponge nevus. Our results support the notion that mutations in keratin-4 and -13 are the underlying cause of white sponge nevus. This article is protected by copyright. All rights reserved.

Objective: The World Workshop on Oral Medicine VII chose the oral microbiome as a focus area. Part 1 presents the methodological state of the science for oral microbiome studies. Part 2 was guided by the question: What is currently known about the microbiome associated with oral squamous cell carcinoma and potentially malignant disorders of the oral mucosa?. Materials and Methods: A scoping review methodology was followed to identify and analyse relevant studies on the composition and potential functions of the oral microbiota using high-throughput sequencing techniques. The authors performed searches in PubMed and EMBASE. After removal of duplicates, a total of 239 potentially studies were identified. Results: Twenty-three studies on oral squamous cell carcinoma, two on oral leukoplakia and four on oral lichen planus were included with substantial differences in diagnostic criteria, sample type, region sequenced and sequencing method utilised. The majority of studies focused on bacterial identification and recorded statistically significant differences in the oral microbiota associated with health and disease. However, even when comparing studies of similar methodology, the microbial differences between health and disease varied considerably. No consensus on the composition of the microbiomes associated with these conditions on genus and species level could be obtained. Six studies on oral squamous cell carcinoma had included in silico predicted microbial functions (genes and/or pathways) and found some similarities between the studies. Conclusions: Attempts to reveal the microbiome associated with oral mucosal diseases are still in its infancy, and the studies demonstrate significant clinical and methodological heterogeneity across disease categories. The immense richness and diversity of the microbiota clearly illustrate that there is a need for additional methodologically comparable studies utilising deep sequencing approaches in significant cohorts of subjects together with functional analyses. Our hope is that following the recipe as outlined in our preceding companion paper, that is Part 1, will enhance achieving this in the future and elucidate the role of the oral microbiome in oral squamous cell carcinoma and potentially malignant disorders of the oral mucosa.

Oral lichen planus (OLP) is a chronic inflammatory mucocutaneous disease of unknown etiology. OLP has recently been linked to thyroid disease, mainly hypothyroidism. The aim of this study was to determine the prevalence of thyroid disease in Colombian patients with OLP. A total of860 clinical records of patients attending the clinics of oral medicine and oral and maxillofacial surgery at IPS CES Sabaneta, Colombia, between 2010 and 2016 were reviewed. Fourteen patients (1.6%) had a diagnosis of OLP. The prevalence of hypothyroidism in patients with OLP was 35.7%, compared to 3.95% in the entire study population (OR 15.92, 95% CI: 5.63-50.09, P = 0.0001). Patients with concomitant hypothyroidism and OLP presented with less severe oral lesions compared to those without thyroid disease. This study supports the notion that patients with OLP should be screened for thyroid disease.El liquen plano oral (LPO) es una enfermedad mucocutánea inflamatoria crónica de etiología desconocida. El LPO ha sido asociado recientemente con la enfermedad de la tiroides, especialmente con hipotiroidismo. El objetivo con este estudio fue determinar la prevalencia de la enfermedad de la tiroides en pacientes colombianos con LPO. Un total de 860 historias clínicas de pacientes que asistieron entre 2010 y 2016 a las clínicas de medicina oral y de cirugía oral y maxilofacial de la IPS CES Sabaneta, Colombia, fueron revisadas. Catorce pacientes (1.6%) habían sido diagnosticados con LPO. La prevalencia de hipotiroidismo en pacientes con LPO fue 35.7%, comparada con 3.95% en toda la población de estudio (RM 15.92, 95% IC: 5.63-50.09, P = 0.0001). Pacientes con hipotiroidismo y LPO concomitante presentaron lesiones orales menos severas comparado con aquellos sin enfermedad de la tiroides. Este estudio respalda la idea de que se debe investigar la presencia de enfermedad de la tiroides en pacientes con LPO.

Objective: Glucocorticoid (GC) treatment suppress the hypothalamic-pituitary-adrenal axis, which may lead to tertiary adrenal insufficiency. This study aimed to investigate the prevalence of tertiary adrenal insufficiency among patients with oral lichen planus treated with topical GC (clobetasol propionate) in the oral cavity, a standard treatment option for this condition. Methods: In this cross-sectional study, we included 24 patients with oral lichen planus receiving long-term (> 6 weeks) clobetasol propionate treatment. Adrenal function was assessed by measuring serum cortisol between 8–9 AM, after a withdrawal of treatment for 48 hours. For patients with serum cortisol concentrations below 280 nmol/L (10 µg/dL), a 250 µg corticotropin stimulation test was performed. Results: Twenty patients had normal serum cortisol concentrations (range 280–621 nmol/L), whereas four patients had low serum cortisol concentrations (13, 45, 63, and 229 nmol/L, respectively). A corticotropin stimulation test revealed partial adrenal insufficiency in two patients (serum cortisol peak level 350 nmol/L and 360 nmol/L) and severe adrenal insufficiency in another two patients (serum cortisol peak level 150 nmol/L and 210 nmol/L). Conclusion: In this small study, approximately 20% of patients receiving chronic topical GCs treatment for oral lichen planus had tertiary adrenal insufficiency. It is essential to be aware of this potential risk and to inform patients about the need for GC stress-doses during an intercurrent illness episode.

To study the prevalence and profile of thyroid disease in a cohort of referred patients with oral lichen planus (OLP) in comparison with a random population sample and to examine the clinical characteristics of OLP patients with and without thyroid disease.Data from 1611 patients with OLP and 1615 patients from the general population were collected by using a standardized registration method. Patients with OLP using levothyroxine (OLP/levothyroxine+) were re-examined to collect information about existing OLP lesions and to confirm the thyroid disease diagnosis. The clinical characteristics of OLP lesions in this group were compared with those in an age- and gender-matched population of patients with OLP without a history of thyroid disease or levothyroxine medication (OLP/levothyroxine-).Nearly 11% (n=170) of the patients with OLP were taking levothyroxine compared with 2.5% (n=40) of the controls (multivariate odds ratio 2.99, 95% confidence interval 2.03-4.44; P.0001). No difference was found in the thyroid disease profile between the groups. At the time of re-examination, patients with OLP/levothyroxine- displayed more erythematous OLP lesions and complained of more severe symptoms compared with the OLP/levothyroxine+ group (P.001).The prevalence of thyroid disease in patients with OLP was significantly higher than in the general population. The OLP lesions of patients with concomitant thyroid disease have a different presentation over time, which indicates a specific subgroup of OLP.

The primary objective of this study was to investigate the association of systemic diseases, use of medications, allergies and tobacco habits with geographic tongue (GT) and fissured tongue (FT) lesions. The secondary objectives were to evaluate the clinical characteristics of tongue lesions and to compare the overall results for referred and non-referred patients.Non-referred patients with GT (GTgp; n = 130) and FT (FTgp; n = 62) were examined by general practitioners (gp) and compared to a control group without oral mucosal lesions (C; n = 1029). Referred patients with GT (GTs; n = 166) and FT (FTs; n = 15) were examined by oral medicine specialists (s) and compared to GTgp and FTgp. Statistical analyses were performed using unpaired t-test or Fisher's exact test. A multiple logistic regression model was developed to control for age and gender as confounders.Compared to the C group, GTgp patients used more anti-hypertensive medications and Swedish snus (p 0.01). The GTgp group consisted of older males (p 0.001) compared to C. Compared to the GTgp group, the GTs group was younger, more likely to have symptomatic lesions (p 0.0001) and comprised of more females. Among the groups examined, FT patients had the highest mean age.This study identified an association between GT and anti-hypertensive medications, as well as the use of Swedish snus. It also found differences in the activities and symptoms of the lesions between referred patients and their counterparts who were seen in general dental practice; these parameters influenced the results when these conditions were taken into account.

Objective To determine the levels of antithyroid antibodies and thyroid hormones in the sera of patients with oral lichen planus (OLP), and to quantify the expression of thyroid proteins in OLP lesions. Subjects and methods Venous blood samples were drawn from 110 patients with OLP who had no history of thyroid disease or levothyroxine supplementation (OLP+/LT4 -). A random population sample of 657 healthy subjects was used as the control group. Two additional groups were used as comparators. Immunohistochemical and qPCR analyses were performed on tissue specimens collected from the patients with OLP and thyroid disease and healthy subjects. Results No association was found between the presence of antithyroid antibodies and OLP. More patients in the OLP+/LT4 - group showed high levels of thyroid-stimulating hormone and low levels of free thyroxine than were seen in the control group. Thyroid-stimulating hormone receptor was more highly expressed in the OLP lesions of patients with thyroid disease than in the healthy oral mucosa. Conclusions A significant number of patients with OLP who are not previously diagnosed with thyroid disease have thyroid parameters that are compatible with hypothyroidism. The expression of thyroid-stimulating hormone receptor in OLP lesions suggests that mechanisms related to autoimmune thyroid disease are involved in the aetiology of OLP.

Objectives: To study the severity of symptoms and estimate the prevalence of oral mucosal lesions in a non-referral adult Swedish population, as registered by general dental practitioners. This study also aims to evaluate the possibi-lity of dental practitioners collecting large quantities of reliable and accurate clinical data on oral mucosal lesions. Study Design: Data from 6,448 adult Swedish patients were collected by general dental practitioners using a standardized registration method. A correlation analysis between a group with oral mucosal lesions and a control group, with no oral mucosal lesions, was performed for various parameters such as symptoms from the oral mucosa, systemic diseases, medication, allergy history, tobacco habits and the patient’s own assessment of their general health. In addition, clinical photos were taken of all oral mucosal lesions in order to determine the degree of agreement between the diagnoses made by general dental practitioners and those made by oral medicine specialists. Results: A total of 950 patients (14.7%) presented with some type of oral mucosal lesion and of these, 141 patients (14.8%) reported subjective symptoms. On a visual analogue scale, 43 patients (4.5%) scored their symptoms

Background Several drugs have been regarded as a possible aetiological factor for oral lichen planus (OLP). Objective To investigate the medication profile of patients with OLP and its possible association with the pathogenesis of OLP. Methods Data from 956 patients with OLP and 1029 controls were collected using a standardized registration method. All regular medications were recorded and classified according to the Anatomical Therapeutic Chemical Classification System. Results Patients with OLP used thyroid preparations (P