Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Genodermatoses represent a group of uncommon, hereditary, single-gene skin disorders, characterized by multisystem involvement, heterogeneous clinical manifestations and different degrees of morbidity and mortality. Some genodermatoses may have oral mucosa and nail involvement, since the oral cavity and cutaneous organ system, including nails, share a close embryologic origin. Nail disorders can manifest with nail hypoplasia or nail hypertrophy. Clinical pictures of affected oral mucosa can be extremely heterogeneous, ranging from asymptomatic papules to painful blisters, leukokeratosis, oral papillomas and fibromas to oral potentially malignant disorders and cancerous lesions. Oral mucosa and nails pathological features may occur synchronously or not and are usually associated with other systemic and skin manifestations. In some cases, oral mucosa and nails diseases may be distinct and constitute the principal sign of the genetic disorder, in other cases they represent only a part of the puzzle for the confirmation of the diagnosis. Continued awareness of the correlation between oral mucosa and nails findings can help physicians to diagnose genodermatosis in a timely manner, allowing more effective clinical management and prevention and/or early detection of complications. This article provides an overview of all specific genodermatoses affecting both oral mucosa and nails. Moreover, the correlation between teeth and nails is summarized in tabular form.

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Verrucopapillary Lesions of the Oral Cavity: A Review

International Healthcare Research Journal ◽

10.26440/ihrj/0407.10365 ◽

2020 ◽

Vol 4 (7) ◽

pp. RV1-RV7

Author(s):

Sana Khaled ◽

Santosh R. Bharadwaj ◽

Bushra Anjum ◽

Satyanarayana D.

Keyword(s):

Oral Cavity ◽

Human Papilloma Virus ◽

Oral Mucosa ◽

Diagnostic Approach ◽

Diagnostic Challenge ◽

Papilloma Virus ◽

Histopathological Features ◽

Potentially Malignant ◽

Malignant Lesions

Verrucopapillary lesions are a spectrum of benign, potentially malignant and malignant lesions of the oral mucosa which usually are misdiagnosed. They pose a great diagnostic challenge mainly due to confusing terminology and also due to similar clinical and histopathological features which often makes these lesions indistinguishable from one another. The human papilloma virus (HPV) plays a important role in the pathogenesis of majority of these lesions. This review aims to summarize and highlight the key clinical and histopathological features of these lesions, and also provides a diagnostic approach to these entities.

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Relationship between chronic trauma of the oral mucosa, oral potentially malignant disorders and oral cancer

Journal of Oral Pathology and Medicine ◽

10.1111/j.1600-0714.2010.00901.x ◽

2010 ◽

pp. no-no ◽

Cited By ~ 7

Author(s):

Eduardo David Piemonte ◽

Jerónimo Pablo Lazos ◽

Mabel Brunotto

Keyword(s):

Oral Cancer ◽

Oral Mucosa ◽

Oral Potentially Malignant Disorders ◽

Chronic Trauma ◽

Potentially Malignant Disorders ◽

Potentially Malignant

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Clinical Review and Management of Oral Potentially Malignant Disorders with Epithelial Dysplasia

10.31219/osf.io/cgfmd ◽

2021 ◽

Author(s):

Mustafa Mohammed Abdulhussain ◽

Ali Sami Muhsin

Keyword(s):

Oral Mucosa ◽

Precancerous Lesion ◽

Oral Lesion ◽

Epithelial Dysplasia ◽

Premalignant Lesions ◽

Oral Potentially Malignant Disorders ◽

Oral Epithelial Dysplasia ◽

Normal Oral Mucosa ◽

Potentially Malignant Disorders ◽

Potentially Malignant

Background: Oral potentially malignant disorders (OPMDs) comprise any disorders, tumors, in addition to any microscopic alterations that have a risk of malignant development of cancers of the mouth. When epithelial dysplasia is detected in an oral lesion, it is termed as a precancerous lesion. Finding: Several changes in the color or thickness of normal oral mucosa might be detected during the clinical diagnosis of the oral lesions. Leukoplakia of the oral cavity is a clinical name for one of the most predominant OPMDs of the oral mucosa. When comparing oral examination with naked eyes to planning to apply staining with special stain or using an image of optical fluorescence, the incidence of patients with oral epithelial dysplasia may rise, as well as the clearing of the lesion boundary. Increased size of more than 2cm2, the presence of colored regions with a red hue, the presence of lichenoid process characteristics, and severe epithelial dysplasia are all considered risk factors. One-third of premalignant lesions may progress to cancer, whereas the other two-thirds may stay stable or regress without progressing to malignancy. Conclusion: It is critical to research the patients' unique characteristics, which include psychological, genetic, dietary, and dental problems. When epithelial dysplasia is present in an oral lesion, it is termed a precancerous lesion. Oral potential malignant diseases with epithelial dysplasia may or may not develop into carcinoma and may or may not be recurrent.

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Clinical Review and Management of Oral Potentially Malignant Disorders with Epithelial Dysplasia

Journal of Health and Medical Sciences ◽

10.31014/aior.1994.04.04.186 ◽

2021 ◽

Vol 4 (4) ◽

Author(s):

Mustafa Mohammed Abdulhussain ◽

◽

Ali Sami Muhsin

Keyword(s):

Oral Mucosa ◽

Precancerous Lesion ◽

Oral Lesion ◽

Epithelial Dysplasia ◽

Premalignant Lesions ◽

Oral Potentially Malignant Disorders ◽

Oral Epithelial Dysplasia ◽

Normal Oral Mucosa ◽

Potentially Malignant Disorders ◽

Potentially Malignant

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Evaluation of Proinflammatory, NF-kappaB Dependent Cytokines: IL-1α, IL-6, IL-8, and TNF-α in Tissue Specimens and Saliva of Patients with Oral Squamous Cell Carcinoma and Oral Potentially Malignant Disorders

Journal of Clinical Medicine ◽

10.3390/jcm9030867 ◽

2020 ◽

Vol 9 (3) ◽

pp. 867 ◽

Cited By ~ 4

Author(s):

Karolina Babiuch ◽

Beata Kuśnierz-Cabala ◽

Barbara Kęsek ◽

Krzysztof Okoń ◽

Dagmara Darczuk ◽

...

Keyword(s):

Squamous Cell Carcinoma ◽

Oral Squamous Cell Carcinoma ◽

Cell Carcinoma ◽

Oral Mucosa ◽

Oral Potentially Malignant Disorders ◽

Tnf Α ◽

Potentially Malignant Disorders ◽

Potentially Malignant ◽

Nf Kappab ◽

Tissue Specimens

Background: Oral squamous cell carcinoma (OSCC) is a life-threatening disease. It could be preceded by oral potentially malignant disorders (OPMDs). It was confirmed that chronic inflammation can promote carcinogenesis. Cytokines play a crucial role in this process. The aim of the study was to evaluate interleukin-1alpha (IL-1α), interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor alpha (TNF-α) in tissue specimens and saliva of patients with OSCC and OPMDs. Methods: Cytokines were evaluated in 60 tissue specimens of pathological lesions (OSCCs or OPMDs) and in 7 controls (normal oral mucosa, NOM) by immunohistochemistry and in saliva of 45 patients with OSCC or OPMDs and 9 controls (healthy volunteers) by enzyme-linked immunosorbent assays. Results: Immunohistochemical analysis revealed significantly higher expression of IL-8 in OSCC specimens and TNF-α in OSCCs and OPMDs with dysplasia as compared to NOM. Moreover, expression of TNF-α was significantly higher in oral leukoplakia and oral lichen planus without dysplasia, whereas expression of IL-8 only in oral leukoplakia without dysplasia in comparison with NOM. Salivary concentrations of all evaluated cytokines were significantly higher in patients with OSCC than in controls. Moreover, levels of IL-8 were significantly higher in saliva of patients with OPMDs with dysplasia as compared to controls and in OSCC patients as compared to patients with dysplastic lesions. There was also significant increase in salivary concentrations of IL-6, IL-8 and TNF-α in patients with OSCC as compared to patients with OPMDs without dysplasia. Conclusion: The study confirmed that proinflammatory, NF-kappaB dependent cytokines are involved in pathogenesis of OPMDs and OSCC. The most important biomarker of malignant transformation process within oral mucosa among all assessed cytokines seems to be IL-8. Further studies on a larger sample size are needed to corroborate these results.

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Nuclear Blebbing Frequency in Tobacco-Induced Oral Potentially Malignant Disorders: A Pilot Study

Acta Cytologica ◽

10.1159/000516496 ◽

2021 ◽

pp. 1-8

Author(s):

Roopa Yadahalli ◽

Supriya Kheur ◽

Aanchal Adwani ◽

Ramesh Bhonde ◽

A. Thirumal Raj ◽

...

Keyword(s):

Oral Mucosa ◽

Tobacco Use ◽

Oral Submucous Fibrosis ◽

Oral Leukoplakia ◽

Clinical Staging ◽

Oral Potentially Malignant Disorders ◽

Normal Oral Mucosa ◽

Significant Difference ◽

Potentially Malignant Disorders ◽

Potentially Malignant

Introduction: Tobacco contains several genotoxic agents including N-nitrosamine which has the potential to cause significant nuclear damage. Nuclear blebbing is a form of protrusion on the nuclear membrane and could potentially be caused by tobacco-induced genotoxicity and is closely associated with malignancy. Thus, the present study aimed to assess if tobacco-associated oral potentially malignant disorders including oral submucous fibrosis (OSF) and oral leukoplakia have a higher nuclear blebbing frequency than patients with normal oral mucosa with no history of tobacco use. Methods: The sample consisted of patients with OSF (n = 30) and oral leukoplakia (n = 10) and normal oral mucosa (n = 10). Exfoliated cells collected from the study groups were smeared on a clean microscopic slide and stained by May-Grunwald-Giemsa stain. A baseline frequency of nuclear blebbing was evaluated using a bright-field microscope with a ×100 objective. The number of nuclear blebbing per 1,000 epithelial cells was recorded and expressed in percentage. ANOVA, the Mann-Whitney U test, and Spearman’s correlation were used to analyze the data. Results: The mean rank of distribution of nuclear blebbing showed significant difference between all 3 groups, with the highest frequency noted in leukoplakia, followed by oral submucous and normal oral mucosa. Within OSF, the frequency of nuclear blebbing significantly increased from early stage to advanced stage. In OSF, a statistically significant positive linear correlation was noted between duration (in years), frequency (per day) of tobacco use, clinical grading, and nuclear blebbing. Discussion/Conclusions: The frequency of nuclear blebbing was significantly higher in oral potentially malignant disorders than normal mucosa. Nuclear blebbing also exhibited a strong dose- and time-dependent correlation with tobacco usage and clinical staging in OSF. The nuclear blebbing frequency could be a noninvasive, economic tool to assess malignant risk in tobacco-induced oral potentially malignant disorders.

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The role of an ophthalmologist in the Alström syndrome diagnosis

Vojnosanitetski pregled ◽

10.2298/vsp170314160k ◽

2019 ◽

Vol 76 (8) ◽

pp. 843-846

Author(s):

Jelena Karadzic ◽

Jelica Pantelic ◽

Igor Kovacevic ◽

Marija Trenkic-Bozinovic

Keyword(s):

Early Childhood ◽

Visual Impairment ◽

Genetic Disorder ◽

Single Gene ◽

Retinal Dystrophy ◽

Clinical Manifestations ◽

Molecular Genetic Analysis ◽

Chromosome 2 ◽

Gamma Glutamyl Transpeptidase ◽

Genetic Syndrome

Introduction. The Alstr?m syndrome (AS) is an extremely rare autosomal recessive genetic disorder, affecting fewer than 1: 1,000,000 people globally. It is a single gene disorder due to the mutation of ALMS1 on chromosome 2 (2p13). The AS affects multiple organs and systems. Approximately 800 affected individuals have been identified worldwide so far. Some cases of the AS may go unrecognized for years as many of the clinical features develop over a longer period of time. As the nystagmus and retinitis pigmentosa are the most consistent findings, usually the first visible sign and present at the early infant period, the main aim of this article is to emphasize the importance of the ophthalmologist in establishing an adequate diagnosis of this rare syndrome. Case report. This article describes a Serbian patient with the Alstr?m syndrome, whose diagnosis was genetically confirmed using the whole exome sequencing. Our patient was a 7-year-old obese male with symptoms of progressive visual impairment, photophobia and nystagmus diagnosed in early childhood. On admission, the bilateral visual acuity was poor, RE 0.06, LE 0.01, the intraocular pressure within range. The funduscopy showed central retinal pigmentation, thus suggesting cone-rod retinal dystrophy with ?bull?s eye maculopathy?. The initial laboratory work at the time of the consultation revealed the elevated triglycerides levels and hyperinsulinemia, increased transaminases and gamma-glutamyl transpeptidase serum activity, whereas the glucose and glycated hemoglobin (HbA1C) levels were normal. The bilirubin test results were normal. Overall, the clinical manifestations were absent. The patient?s cardiac function was normal and the echocardiography did not indicate any abnormalities at the time. His sensorineural hearing was normal as well. A molecular genetic analysis was performed. Two composite heterozygous mutations were discovered within the ALMS1 gene sequence. In addition to the clinical presentation, the mutation detection confirmed the initial diagnosis of the AS. Conclusion. The Alstr?m syndrome should be kept in mind in case of an obese child with photophobia, nystagmus and visual impairment present from early childhood. Fundus examination by an ophthalmologist may significantly help to establish the diagnosis of this rare genetic syndrome.

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Expression of Interleukin-1ß and Interleukin-8 in Oral Potentially Malignant Disorders and Carcinomas

Frontiers in Oral Health ◽

10.3389/froh.2021.649406 ◽

2021 ◽

Vol 2 ◽

Author(s):

Jeaneth Lopez-Labady ◽

Ronell Bologna-Molina ◽

Mariana Villarroel-Dorrego

Keyword(s):

Oral Mucosa ◽

Study Groups ◽

Normal Mucosa ◽

Interleukin 8 ◽

Oral Potentially Malignant Disorders ◽

Normal Oral Mucosa ◽

Potentially Malignant Disorders ◽

Potentially Malignant ◽

Oral Epithelial ◽

Oral Lichen

Objective: To evaluate interleukin-1ß (IL-1ß) and interleukin-8 (IL-8) epithelial expressions in potentially malignant disorders of the oral mucosa as malignant predictive markers.Study design: About 55 tissues embedded in paraffin, comprising 15 oral lichen planus (OLP) lesions, 15 leukoplakias, 15 oral squamous cell carcinomas (OSCC), and 10 samples of normal oral mucosa were included in the study. IL-1ß and 8 expressions were assessed by immunohistochemistry using antibodies antihuman IL-1ß human (sc-7884, Santa Cruz® H-153) and antihuman IL-8 (ab7747, abcam®). The number of positive cells was compared using Student's t-test. Any p-value < 0.05 was considered statistically significant.Results: Nuclear and cytoplasmatic keratinocyte staining were positive for both cytokines in all study groups. However, a statistically significant decrease was observed within all cases compared to normal mucosa, both staining for IL-1β and 8. Moreover, IL-8 showed significant differences between OLP and leukoplakia, and when compared to OSCC.Conclusions: Oral epithelial expression of IL-1β and 8 seems to decrease when the malignant transformation of the oral mucosa increases.

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Cerebrovascular Disease in the Setting of Posterior Reversible Encephalopathy Syndrome

Frontiers in Neurology ◽

10.3389/fneur.2021.765333 ◽

2021 ◽

Vol 12 ◽

Author(s):

XiaoQing Cheng ◽

JianRui Li ◽

Ying Lan ◽

Jia Liu ◽

Sui Chen ◽

...

Keyword(s):

Subarachnoid Hemorrhage ◽

Literature Review ◽

Cerebrovascular Disease ◽

Posterior Reversible Encephalopathy Syndrome ◽

Clinical Manifestations ◽

Timely Manner ◽

Diagnostic Challenge ◽

Posterior Reversible Encephalopathy ◽

Cerebral Vasoconstriction ◽

Reversible Encephalopathy

Overlap between the pathogenesis of posterior reversible encephalopathy syndrome and that of cerebrovascular disease can confound their clinical and radiological presentations, posing a diagnostic challenge. This article presents a literature review and discussion of the clinical manifestations, pathological mechanisms, and imaging manifestations of subarachnoid hemorrhage and vasculitis leading to posterior reversible encephalopathy syndrome, coexistence of posterior reversible encephalopathy syndrome with reversible cerebral vasoconstriction syndrome, and hemorrhage and infarction secondary to posterior reversible encephalopathy syndrome. The findings show that posterior reversible encephalopathy syndrome shares some overlapping pathophysiological mechanisms with cerebrovascular disease. Importantly, neuroimaging plays an important role in identifying this entity in a timely manner and differentiating it from other diseases.

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DIAGNOSTIC VALUE OF SPECIFIC ANTIBODY SYNTHESIS IN BRAIN OF PATIENTS WITH NEUROINFECTIONS

Wiadomości Lekarskie ◽

10.36740/wlek201908103 ◽

2019 ◽

Vol 72 (8) ◽

pp. 1437-1441

Author(s):

Pavel Dyachenko ◽

Igor Filchakov ◽

Anatoly Dyachenko ◽

Victoria Kurhanskaya

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Clinical Manifestations ◽

Diagnostic Value ◽

Diagnostic Challenge ◽

Specific Antibodies ◽

Intrathecal Synthesis ◽

Varicella Zoster ◽

Mrz Reaction ◽

Wide Range

Introduction: Viral encephalitis accounts for 40-70% of all cases worldwide, central nervous system infections pose a diagnostic challenge because clinical manifestations are not typically pathognomonic for specific pathogens, and a wide range of agents can be causative. The aim: To assess the diagnostic value of intrathecal synthesis of specific antibodies in patients with inflammatory lesions of the central nervous system. Materials and methods: Within the framework of the study, two groups of 90 people in each were formed from the patients with neuroinfections admitted to our Center. Intrathecal synthesis (ITS) of total (unspecific) IgG in members of one of group (group of compare) was determined. Brain synthesis of specific antibodies (Ab) to some neurotropic pathogens (herpes simplex virus 1/2, cytomegalovirus, Epstein-Barr virus, varicella zoster virus, rubella virus, Borrelies) was studied in the second group of patients (group of interest). There were no statistically significant differences between groups by gender and age. Encephalitis and encephalomyelitis prevailed among patients of both groups Results: ITS of total IgG was established in 30 (33.3 ± 6.1 %) patients of the first group with IgG index more than 0.6 indicating on inflammatory process in CNS and no marked changes of CSF. ITS of specific Ab was determined in 23 of 90 (25.6 ± 4.6 %) patients included into group of interest. In more than half of cases Ab to several infectious agents were detected simultaneously. ITS of various specificity, in particular, to measles and rubella viruses, and VZV, known as MRZ-reaction, is characteristic of some autoimmune lesions of CNS, multiple sclerosis first of all. In fact, further research of 5 patients with MRZ-reaction confirmed their autoimmune failure of CNS. Detection of ITS in the CSF samples didn’t depend on concentration of specific Ab in serum and CSF and wasn’t followed by HEB dysfunctions which were observed with the same frequency in patients with or without ITS (13.0 % and 13.6 % respectively). Conclusion: Specific Ab synthesis to several neurotropic pathogens in the CSF of significant part of examined patients was established. Thus, diagnostic value of ITS of specific immunoglobulins seems to be limited to cases in which autoimmune damage of the CNS is suspected.

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