Orofacial Manifestations Research Articles

Oral Manifestations of Haematological Disorders (RBC Disorders)

Haematological abnormalities are diverse in nature, in its causation as well as in its clinical manifestations, most ofwhich are exhibitedin the oral cavity. In fact,the oral site in many instances could act as the forerunner of itsmanifestations before the expression of systemic signs and symptoms. The symptoms of haematological disorders are sovaried and nonspecific but often represent the initial sign of an underlying disease. Anaemic disorders are associated with orofacial signs and symptoms including iron deficiency anaemia (IDA), Plummer–Vinson syndrome (PVS), megaloblastic anaemia, sickle cell anaemia, thalassaemia and aplastic anaemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteosclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacialpetechiae, conjunctival haemorrhage, nose-bleeding, spontaneous and post-traumatic gingival haemorrhage and prolonged post-extraction bleeding are common orofacialmanifestations.These manifestations must beproperly recognized to detect the abnormality in the early stages.This paper was aimed to review the literature and identify orofacial manifestations of haematological diseases, with particular reference to anaemia’s. Keywords : a naemia, haematological disorders, glossitis, oral manifestations, pallor mucosa Cite this Article Shoborose Tantray, Seema Sharma. Oral Manifestations of Haematological Disorders (RBC Disorders). Research & Reviews: Journal of Oncology and Hematology . 2020; 9(1): 18–22p.

Orofacial manifestations and dental management of systemic lupus erythematosus: A review.

Systemic lupus erythematosus (SLE) is an autoimmune multisystem disease with numerous clinical manifestations. There is no consensus about the ideal oral management for this group of patients to date. This review aimed to describe the broad spectrum of orofacial and clinical manifestations and their therapeutic approaches. Studies concerning orofacial manifestations of SLE and dental treatment modalities were selected by a literature search (1978-2019) using Google Scholar, PubMed/MEDLINE electronic databases. The initial search strategy provided a total of 129 articles, and of these, 30 were included for qualitative synthesis. The reviewed studies revealed that SLE patients are more at risk of compromised oral and dental health exhibiting increased risk of periodontal diseases and temporomandibular joint disorders. The use of systemic drugs especially immunosuppressive and anticoagulants in SLE patients may also influence their oral management. Results emphasize the need to carry out, at an early stage of the disease, an appropriate oral management of these patients to improve oral health-related quality of life and to prevent the need of more invasive therapeutics. A multidisciplinary approach is needed for dental and medical management of such patients.

CD4 cells count as a prognostic marker in HIV patients with comparative analysis of various studies in Asia Pacific region

Purpose:To evaluate the correlation between CD4+ cells count with orofacial and systemic manifestations in newly diagnosed HIV seropositive patients and comparison of results with the previous studies.Materials and Methods:Hundred (100; 57 males and 43 females) newly diagnosed HIV seropositive patients, before starting antiretroviral therapy (ART) were included in the study. These patients were clustered according to CD4+ cells count into three groups: 0–200 cells/mm3, 201–499 cells/mm3, and more than 500 cells/mm3. Orofacial and systemic manifestations of these patients were recorded and correlated with CD4 cells count values.Results:There was no significant correlation found between CD4+ cells count values of males and females using independent t-test. Chi-square test showed significant correlation between the systemic manifestations and CD4+ cells count categories. Tuberculosis was found to be the most common systemic manifestation in both the genders. In addition, a significant correlation was between the CD4+ cells count and orofacial manifestations, where oral candidiasis was found to be the most common manifestation in both the genders.Conclusion:The prevalence of systemic and orofacial manifestations increases with decrease in the CD4+ cells count of HIV seropositive patients. Hence, it can be used as diagnostic and prognostic marker for immune suppression in HIV positive patients.

Orofacial manifestations of COVID-19: a brief review of the published literature

Coronavirus disease 2019 (COVID-19) has spread exponentially across the world. The typical manifestations of COVID-19 include fever, dry cough, headache and fatigue. However, atypical presentations of COVID-19 are being increasingly reported. Recently, a number of studies have recognized various mucocutaneous manifestations associated with COVID-19. This study sought to summarize the available literature and provide an overview of the potential orofacial manifestations of COVID-19. An online literature search in the PubMed and Scopus databases was conducted to retrieve the relevant studies published up to July 2020. Original studies published in English that reported orofacial manifestations in patients with laboratory-confirmed COVID-19 were included; this yielded 16 articles involving 25 COVID-19-positive patients. The results showed a marked heterogeneity in COVID-19-associated orofacial manifestations. The most common orofacial manifestations were ulcerative lesions, vesiculobullous/macular lesions, and acute sialadentitis of the parotid gland (parotitis). In four cases, oral manifestations were the first signs of COVID-19. In summary, COVID-19 may cause orofacial manifestations that might be the initial features in several cases. However, the occurrence of orofacial manifestations in COVID-19 seems to be underreported, mainly due to the lack of oral examination of patients with suspected and/or confirmed COVID-19. Oral examination of all suspected and confirmed COVID-19 cases is crucial for better understanding and documenting COVID-19-associated orofacial manifestations.

Clinical orofacial and myofunctional manifestations in an adolescent with Noonan Syndrome: a case report

ABSTRACT Noonan syndrome is an autosomal dominant genetic disease with different manifestations, including Speech, Language and Hearing Sciences ones. The authors describe the orofacial and myofunctional manifestations of an adolescent diagnosed with Noonan syndrome, by consulting the Speech, Language and Hearing Sciences record of a 17-year-old male patient, who underwent screening and speech therapy evaluation with a confirmed genetic diagnosis of Noonan syndrome. The results were qualitatively analyzed. The patient had a long facial type, with a disproportion between the lower and middle thirds of the face, ogival palate, and Mallampati class IV. A deficit in mobility and sensitivity of phonoarticulatory organs was also identified, absence of pathological oral and gag reflexes, decreased lip tone and tongue tension, increased speed chewing and inefficient grinding, functional swallowing for assessed consistencies, mild verbal and nonverbal apraxia, and moderate dysarthria. The results confirmed the presence of alterations in the speech-language organs, proving the relevance of the Speech, Language and Hearing Sciences evaluation in Noonan Syndrome, to allow adequate follow-up and treatment.

Retinal detachment in Stickler syndrome: A review of surgical outcomes and prognosis

Stickler syndrome is an inherited disorder of the collagen connective tissues with ophthalmic, orofacial, auditory, and articular manifestations. The risk of retinal detachment in Stickler syndrome is very high, and it is considered to be the most common cause of retinal detachment in children. Repair of retinal detachment in Stickler syndrome is challenging with variability in surgical and visual outcomes. Early diagnosis, close follow up and prompt intervention is necessary to prevent serious complication of retinal detachment and visual loss. Here we are reviewing the retinal detachment in Stickler syndrome, surgical outcomes and prognosis.

Predicting Neurological Disorders Linked to Oral Cavity Manifestations Using an IoMT-Based Optimized Neural Networks

Anatomically, oral cavity and central nervous system have a close relationship; the mouth and face are the location for 30–40% of the body’s sensory and motor nerves. The identification of orofacial manifestations of neurological disorders is usually in direct relation with the responsibilities of a dental surgeon. Therefore, familiarizing dental surgeons with theses manifestations is essential to have better recognition, diagnosis, and correct decisions upon treating their associated Neurological Disorders. These manifestations should be efficiently analyzed using novel effective techniques since their related neurological disorders need to be early identified to avoid serious consequences. Furthermore, preventive dental care for patients with neurological disorders and all kind of rehabilitative treatments necessitates well-planned and effective novel approaches. The Internet of Medical Thing (IoMT) is a relatively new technology that allows the transfer of medical data over a secure network of medical sensors and wearable devices. The data transferred are of utmost importance in diseases diagnosis and treatment. In this paper, an IoMT-based Intelligent Guided Particle Local Search with Optimized Neural Networks (IGPLONN) approach is proposed. Firstly, dental data are collected from the International Collaboration on Cancer Reporting (ICCR) oral cavity and central nervous system. Secondly, features are extracted from data and IGPLONN algorithm is utilized to select the effective features by minimizing the feature dimension that helps improve the overall prediction rate. Finally, the obtained features are transferred to the central health application through the IoMT platform where they can be analyzed by dental practitioners for neurological disorders prediction. The hybrid optimized technique improves the overall oral-linked neurological diseases detection rate. Moreover, it efficiently manages the forecast parameters that are used to predict the dental metastasis with minimum computational complexity. The performance of the proposed system has been experimentally evaluated on MATLAB to verify its excellence. The results revealed that proposed IoMT-based IGPLONN method attains the maximum accuracy of 98.3% compared to other methods.

Granulomatosis with polyangiitis(wegener’s granulomatosis); an important rare differential diagnosis for generalized hyperplastic gingivitis.

Granulomatosis with polyangiitis (GPA) formerly known as Wegener’s granulomatosis is a rare lifethreatening disease which can affect multiple organs of the body including oral cavity. The oral manifestation of GPA has been named as strawberry gingivitis due to its characteristic features. We report a case of GPA in a 68-year-old lady who presented with Strawberry gingivitis as the initial symptom and successfully managed with prednisone and cyclophosphamide. This case demonstrates an orofacial manifestation of a systemic disease which emphasises the importance of awareness of this kind of manifestations among dental professionals in order to facilitate early diagnosis. Key words: Anti neutrophil cytoplasmic antibody, Granulomatosis with polyangiitis, Strawberry gingivitis.

WILLIAMS-BEUREN SYNDROME AND ORAL FINDINGS

Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Virtually every organ and system can be affected in WBS as a result of haploinsufficiency. Most cases are sporadic, although familial cases with autosomal dominant inheritance have been reported. Oral abnormalities are also described in clinical manifestations of the disease. This study describes orofacial features in 17 patients with WBS. Patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common oral findings. The present study contributes to the knowledge of orofacial manifestations in WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help to improve their quality of life.

Standardizing the Clinical Orofacial Examination in Juvenile Idiopathic Arthritis: An Interdisciplinary, Consensus-based, Short Screening Protocol.

To develop a consensus-based, standardized, short (< 3 min) clinical examination protocol to assess the multidimensional, orofacial manifestations of juvenile idiopathic arthritis (JIA). The study was conducted by a multidisciplinary task force from the Temporomandibular Joint Juvenile Arthritis Working Group (TMJaw). The study used an acknowledged sequential approach involving (1) a global multidisciplinary online questionnaire study, (2) a systematic literature review and consensus meetings to identify items for inclusion, (3) pilot testing of included items, (4) test of reliability in 22 subjects with JIA by 4 examiners, (5) test of construct validity in a case-control study involving 167 subjects, and (6) establishment of final recommendations. Six items were recommended for the final examination protocol: (1) clinician-assessed pain location, (2) temporomandibular (TMJ) joint pain on palpation (open and closed mouth), (3) mandibular deviation at maximal mouth opening (≥ 3 mm), (4) maximal unassisted mouth opening capacity, (5) frontal facial symmetry, and (6) facial profile. All recommended items showed acceptable reliability and construct validity. The average mean examination time was 2 min and 42 s (SD ± 38.5 s). A consensus-based, short clinical examination protocol was developed. The protocol takes less than 3 min to complete and provides information about orofacial symptoms, TMJ dysfunction, and dentofacial deformity. The standardized examination protocol is applicable to routine clinical care, as well as future research studies.

Dental and craniofacial features associated with GNAS loss of function mutations.

Pseudohypoparathyroidism (PHP, OMIM #103580) is a very rare disease (incidence 0.3-1/100,000). Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 that encodes the alpha subunit of the stimulatory G protein (Gsα) cause inactivating parathyroid hormone (PTH)/PTHrP signalling disorder type 2 (iPPSD2 or PHP type 1A), which is characterized by Albright hereditary osteodystrophy and resistance to multiple hormones that act through the Gsα signalling pathway (including PTH, thyroid-stimulating hormone, and α-melanocyte-stimulating hormone). To date, little information is available on craniofacial features in patients with PHP. The small number of patients studied in previous reports as well as the lack of molecular characterization of the patients may have precluded the detection of specific orofacial manifestations in the different PHP subtypes. We conducted a systematic analysis of dental and craniofacial features in 19 patients with iPPSD2 and maternal GNAS inactivating mutations to assess the frequency and specificity of the anomalies. Facial examinations showed reduced vertical, sagittal, and transverse development of the mid-facial structures. Intraoral and radiographic examinations revealed that 89 per cent of the patients had at least one dental anomaly, including tooth submergence leading to severe infraocclusion in 83 per cent of cases. Craniofacial analysis of lateral cephalometric radiographs also showed a significant alteration in the development of the cranial base and maxillary and mandibular structures in these patients. Patients with iPPSD2 and maternal GNAS mutations had specific craniofacial alterations and dental abnormalities. These specific defects should be assessed in order to provide appropriate dental and orthodontic care to these patients. (clinical trial registration: 1920371 v 0, French Nationale Data Processing and Liberties Commission - CNIL).

Oral health-related quality of life in rare diseases associated with oral symptoms, diagnostic delay, and sex

In Germany, around four million people are affected by arare disease, from which 15% show orofacial manifestations. The aim of this cross-sectional study was to determine the oral health-related quality of life of people with rare diseases and to investigate the relationship between oral symptoms, diagnostic delay, and gender. Aquestionnaire with open-ended questions, including questions from the validated oral health impact profile (OHIP) G14 questionnaire, was developed to survey the subjective oral health-related quality of life. The questionnaire was sent to 125 German member associations of the umbrella organization of self-help groups. The correlation between OHIP values and the threefactors was evaluated using aregression model with asignificance level of p = 0.01. In total, 473 participants affected by 96 different rare diseases were included in this analysis. The OHIP value for participants without oral manifestations was 6.54 points lower than for those with oral symptoms (p = 0.001). For oral symptoms, the OHIP increased by 0.080 points (p = 0.014) with each year of diagnostic delay. Aconnection with sex was not found. Regardless of the presence of oral symptoms, people with rare diseases in Germany show apoorer oral health-related quality of life than is known to the normal population. If oral symptoms are present, they show anegative correlation with oral health-related quality of life. On average, it takes 8.37 years for adisease to be correctly diagnosed. The earlier arare disease is diagnosed, the better the oral health-related quality of life of those affected.

Oral features of systemic sclerosis: A case-control study.

The aim of this study was to evaluate the orofacial parameters of systemic sclerosis (SSc) and its related systemic features. A descriptive case-control study was performed from November 2015 to October 2016. Ninety-three individuals were included and divided into SSc group (n=50) and healthy controls (C, n=43). Systemic sclerosis individuals were mostly women (43/50, 86%), with a mean age of 46years (±11.6years). Telangiectasia (42/50, 84%) and reduced mouth opening (35/50, 70%) were the most frequent orofacial findings. The periodontitis frequency was much higher in SSc individuals than in healthy controls (90.7%×48.83%; p<.001). In addition, SSc individuals presented a distinctive pattern of periodontitis, with low probing pocket depth (2±0.65mm×2±0.24; p<.001), higher gingival recession (4±2.13×0.14±0,22; p<.001), higher periodontal attachment loss (6±1.34mm×2±0.43, p<.001), and lower gingival bleeding index values (7.05±7.25×21.57±15.66; p<.001). Orofacial manifestations were common in SSc and included a unique pattern of periodontal manifestation, characterized by lower gingival bleeding index, higher periodontal attachment loss, and low probing depth.

Oro-facial manifestations in lepromatous leprosy patients in Central India: clinical findings from a cross-sectional study.

To clinically evaluate the oro-facial manifestations in lepromatous leprosy patients undergoing multidrug therapy in Central India. Two hundred patients from 2 leprosy treatment centers in Central India who satisfied the diagnostic criteria set by the WHO (2006-2010) committee on leprosy were included in the study. To avoid bias, only patients who started the multi-drug treatment regimen less than 1year ago were included. All the patients were examined for the presence of oral and facial manifestations. To confirm that the oro-facial manifestations were not due to HIV co-infection, serological diagnostic tests including ELISA, Immunocomb, and Tri-dot were performed. Majority of the patients (n = 189) exhibited oral (n = 145) and/or facial (n = 147) manifestations. The most common oral lesions were found to be fissuring and depapillation of the tongue followed by fibrosis and loss of uvula. Among the facial manifestations, facial skin lesions and loss of eyebrows were most prevalent followed by sagging of facial skin and facies leonine. The facial manifestations of leprosy are quite common, readily recognizable, and relatively specific to the disease. Thus, the presence of facial manifestations, especially with co-existing oral lesions must prompt the clinician to mandate further investigations to confirm the diagnosis. As evidenced by the present study, facial manifestations and oral lesions are an integral part of leprosy. In addition to being a diagnostic parameter, facial manifestations and oral lesions could potentially be used to monitor the disease progression and treatment outcome.

Viral, bacterial, and fungal infections of the oral mucosa: Types, incidence, predisposing factors, diagnostic algorithms, and management.

For millions of years, microbiota residing within us, including those in the oral cavity, coexisted in a harmonious symbiotic fashion that provided a quintessential foundation for human health. It is now clear that disruption of such a healthy relationship leading to microbial dysbiosis causes a wide array of infections, ranging from localized, mild, superficial infections to deep, disseminated life-threatening diseases. With recent advances in research, diagnostics, and improved surveillance we are witnessing an array of emerging and re-emerging oral infections and orofacial manifestations of systemic infections. Orofacial infections may cause significant discomfort to the patients and unnecessary economic burden. Thus, the early recognition of such infections is paramount for holistic patient management, and oral clinicians have a critical role in recognizing, diagnosing, managing, and preventing either new or old orofacial infections. This paper aims to provide an update on current understanding of well-established and emerging viral, bacterial, and fungal infections manifesting in the human oral cavity.

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Stickler syndrome (SS) is characterized by ophthalmic, articular, orofacial, and auditory manifestations. SS is usually autosomal dominantly inherited with variants in COL2A1 or COL11A1. Recessive forms are rare but have been described with homozygous variants in COL9A1, COL9A2, and COL9A3 and compound heterozygous COL11A1 variants. This article expands phenotypic descriptions in recessive SS due to variants in genes encoding Type IX collagen. Clinical features were assessed in four families. Genomic DNA samples derived from venous blood were collected from family members. Six affected patients were identified from four pedigrees with variants in COL9A1 (one family, one patient), COL9A2 (two families, three patients), and COL9A3 (one family, two patients). Three variants were novel. All patients were highly myopic with congenital megalophthalmos and abnormal, hypoplastic vitreous gel, and all had sensorineural hearing loss. One patient had severe arthropathy. Congenital megalophthalmos and myopia are common to dominant and recessive forms of SS. Sensorineural hearing loss is more common and severe in recessive SS. We suggest that COL9A1, COL9A2, and COL9A3 be added to genetic screening panels for patients with congenital hearing loss. Although recessive SS is rare, early diagnosis would have a high impact for children with potentially dual sensory impairment, as well as identifying risk to future children.

Orofacial clinical features in arnold chiari type i malformation: a case series

Background: Arnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I and discuss their demographic distribution and clinical features in light of the literature.

Rare Diseases with Periodontal Manifestations.

Background: The object of this paper was to provide an overview of rare diseases (RDs) with periodontal manifestations and allocate them to relevant categories. Methods: In ROMSE, a database for “Rare Diseases with Orofacial Involvement”, all 541 entities were analyzed with respect to manifestations of periodontal relevance. Inclusion criteria were periodontally relevant changes to the oral cavity, in accordance with the 2018 version of the Classification of Periodontal and Peri-Implant Diseases and Conditions. Rare diseases were recorded, using the methodology described, and subsequently compared with the Orphanet Classification of Rare Diseases. Results: A total of 76 RDs with periodontal involvement were recorded and allocated in accordance with the Classification of Periodontal and Peri-Implant Diseases and Conditions. Of the 541 RDs analyzed as having known orofacial manifestations, almost 14 percent indicated a periodontally compromised dentition. Conclusions: Around 14 percent of RDs with an orofacial involvement showed periodontally relevant manifestations, which present not only as a result of gingivitis and periodontitis, but also gingival hyperplasia in connection with an underlying disease. Thus, dentists play an important role in therapy and early diagnoses of underlying diseases based on periodontally relevant manifestations.

Evaluation of Mandible Fractures in Patients With Sickle Cell Anemia—A Nationwide Study

Sickle cell anemia is the most commonly inherited blood disorder in the United States. Despite its prevalence, clinicians know little about the extent of its impact on orofacial manifestations. All patients with diagnoses of mandible fracture and sickle cell anemia admitted from 2004 through 2014 were identified using the National Inpatient Sample. Patient demographics, fracture regions, and complications were characterized by descriptive statistics. Fifty-one of 48,464 patients admitted for mandible fracture had sickle cell anemia. The mean age of the identified patients was 25years (range, 4 to 58yr). Of all admitted patients, mandible angle fracture was the most common (19%), followed by fracture of the body of the mandible. Seventy-five percent of cases reviewed were treated with open reduction and internal fixation. Most mandible fractures in patients with sickle cell anemia were located in the angle of the mandible. Complications were minimal and outcomes were satisfactory. Aseptic necrosis of the jaw was a frequent complication of mandible fracture in patients with sickle cell anemia. These results provide clinicians with a better understanding of the distribution and hospital course of patients with sickle cell anemia and facial fractures.

Orthodontically Relevant Manifestations in People with Rare Diseases

Background: Approximately 15% of all rare diseases occur with orofacial manifestations. Symptoms and manifestations of relevance to orthodontists represent a considerable proportion of these diseases and require appropriate strategies for their treatment. This article provides an overview of the orthodontically relevant manifestations of rare diseases. Material and Methods: Overall, 3,639 rare diseases listed at the Orphanet, OMIM or Pubmed database were evaluated for orofacial manifestations. All rare diseases which were indicated with at least one orofacial manifestation were recorded in a database for rare diseases with orofacial manifestations called “ROMSE,” which was developed by the authors. All the rare diseases were analysed with regard to orthodontically relevant orofacial manifestations, such as dysgnathia, changes in the number of teeth, failures of eruption, pathologies of bone metabolism or orofacial clefts. For all rare diseases with orthodontic relevance, an exact analysis was undertaken. Results: The orthodontically relevant orofacial manifestation termed dysgnathia is described in 151 of 535 identified rare diseases (28.2%). In these 151 rare diseases, 15 different subforms of dysgnathia, in the sense of skeletal misdevelopments of the jaws but without dental abnormalities, were described. Also changes in the number of teeth (17.9%), orofacial clefts (27.6%), failures of eruption (8.4%) and pathologies of the bone (2.1%) were described. Conclusions: Orthodontics play an important role in the diagnosis and treatment of orofacial manifestations in rare diseases. Databases such as ROMSE are a first step toward providing valid information in publicly accessible databases.