Autoimmune bullous diseases (AIBDs) still represent a considerable a source of morbidity and mortality: early identification of a specific AIBD is often difficult due to overlapping clinical and/or laboratory features and time-consuming invasive laboratory tests. We aimed to investigate the potential role of a new imaging technology, line-field confocal optical coherence tomography (LC-OCT), in the non-invasive diagnosis of AIBDs. LC-OCT was performed at lesional, perilesional and contralateral healthy sites in 30 patients, before histology and direct immunofluorescence. LC-OCT examination was able to identify the level of split (subcorneal/suprabasal/subepidermal/sublamina densa), to provide detailed images of the bulla roof morphology and content (eg, erythrocytes/acantholytic cells/polymorphonucleates). Areas of intra/subepidermal detachment were also detected also at clinically normal perilesional skin sites. LC-OCT can support physicians, real time and at bed-site, in the differential diagnosis of various AIBDs and their mimickers. Moreover, it can be used for the identification of subclinical lesions and therapy tapering.

Line field confocal optical coherence tomography: An adjunctive tool in the diagnosis of autoimmune bullous diseases.

Oral squamous cell carcinoma (OSCC) is the most prevalent form of cancer of lips and oral cavity, and its diagnostic delay, caused by misdiagnosis at the early stages, is responsible for high mortality ratios. Biopsy and histopathological assessment are the gold standards for OSCC diagnosis, but they are time-consuming, invasive, and do not always enable the patient's compliance, mainly in cases of follow-up with the need for more biopsies. The use of adjunctive noninvasive imaging techniques improves the diagnostic approach, making it faster and better accepted by patients. The present review aims to focus on the most consolidated diagnostic techniques, such as vital staining and tissue autofluorescence, and to report the potential role of some of the most promising innovative techniques, such as narrow-band imaging, high-frequency ultrasounds, optical coherence tomography, and in vivo confocal microscopy. According to their contribution to OSCC diagnosis, an ideal three-step diagnostic procedure is proposed, to make the diagnostic path faster, better, and more accurate.

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Noninvasive Imaging Methods to Improve the Diagnosis of Oral Carcinoma and Its Precursors: State of the Art and Proposal of a Three-Step Diagnostic Process.

Down syndrome (DS) is a genetic disorder associated with early-onset periodontitis and other periodontal diseases (PDs). The present work aimed to systematically review the scientific literature reporting studies in vivo on oral microbiota features in subjects with DS and related periodontal health and to highlight any correlation and difference with subjects not affected by DS, with and without PDs. PubMed, Web of Science, Scopus and Cochrane were searched for relevant studies in May 2021. The participants were subjects affected by Down syndrome (DS) with and without periodontal diseases; the study compared subjects with periodontal diseases but not affected by DS, and DS without periodontal diseases; the outcomes were the differences in oral microbiota/periodontopathogen bacterial composition among subjects considered; the study design was a systematic review. Study quality was assessed with risk of bias in non-randomized studies of interventions (ROBINS-I). Of the 954 references retrieved, 26 studies were considered. The conclusions from the qualitative assessment of the papers revealed an increasing knowledge over the last years of the microbiota associated with DS and their periodontal diseases, in comparison with healthy subjects and subjects with other kinds of mental disabilities. Few data have emerged on the mycobiome and virobiome of DS, hence, further investigations are still necessary.

Oral Microbiota Features in Subjects with Down Syndrome and Periodontal Diseases: A Systematic Review.

OBJECTIVES Intraoral ultra-high frequency ultrasound (UHFUS) is an emerging technique in oral medicine, due to its possibility to provide submillimeter resolution imaging of superficial mucosal structures. In this study, the potential role of UHFUS in the diagnosis of oral pemphigus vulgaris (PV) and mucous membrane pemphigoid (MMP) is assessed. MATERIALS AND METHODS Consecutive patients with suspected oral PV or MMP were enrolled. All patients underwent clinical examination, laboratory tests, intraoral UHFUS scan, and biopsy. Histology and direct immunofluorescence were set as benchmark for diagnosis confirmation. The sensitivity and specificity of UHFUS compared to histology were assessed. Mann-Whitney test was performed to evaluate the presence of differences in the echogenicity of PV and MMP. P-value was set at P < 0.05. RESULTS Twenty-five patients were included. Thirteen patients were diagnosed with PV, and twelve with MMP. The UHFUS features of PV and MMP lesions were described. Image analysis showed statistically significant differences between the echogenicity of PV and MMP lesions (P < 0.05). Good concordance between UHFUS and histology was found. UHFUS showed 75% sensitivity in the diagnosis of PV and 66.7% in the diagnosis of MMP. CONCLUSIONS UHFUS appears a valuable tool in the diagnosis of PV and MMP. Although histology and immunofluorescence remain the gold standard, UHFUS role in the diagnostic algorithm of PV and MMP seems promising as a chair-side tool consistently enhancing clinical evaluation of oral bullous lesions.

Ultra‐high frequency ultrasound in the differential diagnosis of oral pemphigus and pemphigoid: An explorative study

Neurofibromatosis type 1 (NF1) is a common genetic disease whose dermatological lesions are at the forefront of its development. Cutaneous manifestations include cafe au lait spots, intertriginous freckling, and neurofibromas which appear during childhood and adolescence and are part of the clinical criteria to diagnose NF1. However, it is only recently that oral manifestations have been highlighted in many studies as frequently associated to NF1. This article aims to review oral and cutaneous manifestations related to NF1 and to report a case of a 51-year-old male with skin and oral neurofibromas related to NF1. Our patient presented with lesions on the gingiva, a rare localization that takes a hypertrophic form mimicking other various pathological conditions. Although not frequent, malignant transformation in NF1, especially regarding plexiform neurofibromas, is well established. Patients with NF1 therefore have regular follow-ups based on clinical examination, as sarcomatous transformation brings an extremely poor prognosis, recurrences and distant metastasis being common.

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Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions.

Objectives:Optical coherence tomography (OCT) is a non-invasive technique based on optical imaging with a micrometre resolution. The purpose of this study is to investigate the potential role of OC...

https://www.birpublications.org/doi/pdf/10.1259/dmfr.20190071

Optical coherence tomography imaging of oral mucosa bullous diseases: a preliminary study

Down syndrome (DS) is an autosomal disorder associated with mental and physical involvement. The typical craniofacial phenotype and the dental anomalies in DS subjects have been widely described, but a systematic report on the manifestations affecting the oral mucosae in children with DS is still lacking. This systematic review aimed to establish the prevalence of oral mucosal manifestations in children/young adults with DS. Pubmed, Web of Science, and Scopus were investigated in September 2020. Documents in English on DS children/young adults (up to 25 years) reporting oral mucosal findings were considered. Study quality was assessed with ROBIN-I. Of the 150 references retrieved, 14 studies were considered eligible. The risk of bias ranged from low to unclear. Fissured tongue appeared to increase with age and was more prevalent in DS children than in the general population. Lip fissures and cheilitis were heterogeneously reported. Candida spp. carriage with and without active candidiasis was more frequent in DS children/young adults than in controls. C. albicans was the most prevalent species. Few other oral mucosal conditions have been reported sporadically. The heterogeneity of the works revealed the need for more appropriate oral examination to intercept the oral manifestations of oral mucosa and prevent recurrent candidiasis.

Oral Manifestations in Children and Young Adults with Down Syndrome: A Systematic Review of the Literature

Background: Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder. The expression of NF1 is extremely variable considering the broad spectrum of mutations affecting the gene(s) responsible for the pathology. Aim: To investigate the prevalence of oral manifestations in a group of children affected by neurofibromatosis type 1. Design: 100 pediatric patients, with genetically confirmed NF1 were enrolled in this study and matched to a total of 100 healthy children. Clinical examination was used to investigate: dental caries, dental abnormalities, periodontal health, neurofibromas, malocclusions, and enamel defects. Results: Mann Whitney’s test concerning prevalence of dental caries resulted in a no significant difference between the two groups (p = 0.90); a significant difference was highlighted as regards the other kinds of manifestations as well: enamel defects (p = 0.01), neurofibromas (p = 0.0043) and poor oral hygiene (p = 0.0002) with a higher prevalence of these features in NF1 patients than healthy controls. Similar results come out, regarding dental abnormalities in which can observe a significant difference between shape anomalies (p < 0.001). Conclusion: According to data obtained from the present study, it can be stated that NF1-related oral manifestations can be detected during childhood and adolescence. In particular for neurofibromas, enamel defects, shape anomalies, and poor oral hygiene.

Francesca Loffredo

Papers

Optical coherence tomography imaging of oral mucosa bullous diseases: a preliminary study

Oral Manifestations in Children and Young Adults with Down Syndrome: A Systematic Review of the Literature

Oral Clinical Manifestations of Neurofibromatosis Type 1 in Children and Adolescents