scholarly journals Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal

Children ◽  
2021 ◽  
Vol 9 (1) ◽  
pp. 12
Author(s):  
Claudia Salerno ◽  
Valeria D’Avola ◽  
Luca Oberti ◽  
Elena Almonte ◽  
Elena Maria Bazzini ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Case Series ◽  
Narrative Review ◽  
Genetic Syndromes ◽  
Genetic Syndrome ◽  
Pubmed Search ◽  
Treatment Plans ◽  
Oral Abnormalities ◽  
Oral Anomalies

Rare genetic syndromes, conditions with a global average prevalence of 40 cases/100,000 people, are associated with anatomical, physiological, and neurological anomalies that may affect different body districts, including the oral district. So far, no classification of oral abnormalities in rare genetic syndromes is present in the literature. The aim of this narrative review is to analyze literature on rare genetic syndromes affecting dento-oro-maxillofacial structures (teeth, maxillary bones, oral soft tissues, or mixed) and to propose a classification according to the detected oral abnormalities. In addition, five significant cases of rare genetic syndromes are presented. The Scale for the Assessment of Narrative Review Articles (SANRA) was followed for this review. From 674 papers obtained through PubMed search, 351 were selected. Sixty-two rare genetic syndromes involving oral manifestations were found and classified. The proposed classification aims to help the clinician to easily understand which dento-oro-maxillofacial findings might be expected in the presence of each rare genetic syndrome. This immediate framework may both help in the diagnosis of dento-oro-maxillofacial anomalies related to the underlying pathology as well as facilitate the drafting of treatment plans with the involvement of a multidisciplinary team.

A Comprehensive Review on Classification of Oral Ulcerative Lesions

2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Hina Handa
Keyword(s):  
Oral Cavity ◽  
Soft Tissues ◽  
Clinical Manifestations ◽  
Diagnosis And Treatment ◽  
Diagnostic Skills ◽  
Oral Mucosal Lesions ◽  
Treatment Plans ◽  
Common Group ◽  
Ulcerative Lesions

Oral mucosal lesions are a broad group of lesions which are located in the soft tissues of the oral cavity identified by its specific etiology, clinical manifestations, differential diagnosis and treatment. White lesions of the oral cavity constitute a rather common group of lesions that are encountered during routine clinical dental practice. The process of clinical diagnosis and treatment planning is of great concern to the patient as it determines the prognosis. There should be in-depth knowledge to the consultant about the varied clinical features, etiology of the disease and various treatment plans. Clinical diagnostic skills and ideal judgment forms the key to successful management of white lesions of the oral cavity This review will discuss many of the most common intraoral white lesions including their clinical presentation, how to make an accurate diagnosis

scholarly journals Congenital Rhabdomyosarcoma Presenting as a Neck Mass at Birth

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Leah E. Waldman ◽  
Alex K. Williamson ◽  
John B. Amodio ◽  
Lee Collins
Keyword(s):  
Malignant Tumor ◽  
Gene Fusion ◽  
Soft Tissues ◽  
Case Reports ◽  
Pediatric Population ◽  
Case Series ◽  
Neck Mass ◽  
Gene Rearrangements ◽  
Prognostic Information

Rhabdomyosarcoma is a malignant tumor of the soft tissues which preferentially affects the pediatric population. Neonatal rhabdomyosarcoma is rare, and much of the published literature concerning this entity consists of isolated case reports and small case series. Recent work involving the classification of rhabdomyosarcoma has helped to delineate prognostic information based on gene rearrangements. Here, we present a case of congenital rhabdomyosarcoma seen in utero which manifested as a neck mass at birth and was found to harbor a favorable gene fusion.

Genetic Implication and Dental Consideration in Syndromes with Benign and Malignant Oral Neoplastic Component: A Narrative Review

2019 ◽  
Vol 10 (2) ◽  
pp. 59-64
Author(s):  
Saurabh Singh ◽  
Khushboo Gupta ◽  
Siva Kumar Pendalya ◽  
Kameswari Kondreddy
Keyword(s):  
Early Recognition ◽  
Case Reports ◽  
Case Series ◽  
Neck Region ◽  
Signs And Symptoms ◽  
Narrative Review ◽  
Original Research ◽  
Expert Committee ◽  
Pubmed Search ◽  
English Articles

Background and Objective: The presence of an internal and often occult malignancy may be forewarned by various oral manifestations. Several of these findings are preferentially localized to the head and neck region, including the oral cavity. This places the dental practitioner in a unique position to detect these signs and symptoms of occult neoplastic involvement. Because they may be present before an established syndrome or cancer diagnosis, even representing the initial expression of disease in some cases, early recognition by a dentist may lead to timely diagnosis and management of these syndromes. Thus, the aim of this narrative review was literature search and gathering data of such syndromes. Materials and Methods: A Medline–PubMed search was conducted of the literature using the keywords “syndrome,” “dental management,” “Cowden’s syndrome,” “Peutz–Jeghers syndrome,” “malignant component,” “Gardner’s syndrome,” “Gorlin–Goltz syndrome,” and “McCune–Albright syndrome.” The search strategy was limited to human studies (case reports and case series), full-text English articles published from January 1, 2000, to mid-2019. Irrelevant articles or articles with inadequate information were omitted. Results: A total of 36 pieces of literature were reviewed, of which 13 were literature reviews, 15 case reports, 3 expert committee guides and updates, and 4 original research papers, and 1 was a book. Conclusion: These syndromes pose risk during dental practice, which necessitates extra awareness and caution to prevent potential complications. Although, the multidisciplinary approach in treating these cases is not well documented, any related information may be helpful in understanding the pathogenesis and the nature of these syndromes.

Surgical Approach to Hemipalatal Discrepancy in Tessier 7 Reconstruction: Review of Literature and Case Series

2021 ◽  
pp. 105566562098404
Author(s):  
Aditi M. Kanth ◽  
Max Krevalin ◽  
Oluwaseun A. Adetayo
Keyword(s):  
Cleft Palate ◽  
Pediatric Patients ◽  
Soft Tissues ◽  
Relevant Literature ◽  
Surgical Techniques ◽  
Case Series ◽  
Review Of Literature ◽  
Mesh Terms ◽  
Facial Clefts ◽  
Pubmed Search

Objective: The authors present findings and techniques to address hemipalatal discrepancy in patients with Tessier 7 cleft and associated cleft palate during cleft palatoplasty. Design: The authors report 2 cases of pediatric patients with Tessier 7 facial clefts and associated cleft palate. One patient presents on the broader oculo-auriculo-vertebral spectrum and the other is has isolated Tessier cleft 7. Additionally, a PubMed search was performed using the MeSH terms “tessier 7,” “cleft palate”, “macrostomia,” “tessier 7 AND cleft palate,” “macrostomia AND cleft palate,” AND “hemipalatal discrepancy.” All relevant literature was identified and underwent full review for qualitative analysis. Results: Two patients met criteria for inclusion in this article. The surgical techniques utilized to mitigate the hemipalatal length discrepancy are detailed, and intraoperative photographs are provided. The results of the literature review are also presented. Tessier 7 craniofacial cleft and palatal clefts, when occurring in combination, is noted to result in discrepant hemipalatal length with short maxillary palate length on the affected side as well hypoplasia of the associated speech musculature. The postoperative palatal length after palatoplasty in both patients was longer than the preoperative hypoplastic palatal length. Conclusions: When occurring in combination, Tessier 7 craniofacial cleft and concomitant palatal cleft results in discrepant hemipalatal length, and deficiency of the bony maxillary palatal shelves, and associated speech musculature and soft tissues. The techniques described in this article may assist in maximizing postoperative palatal length.

scholarly journals A Comprehensive Review on Classification of Oral Ulcerative Lesions

2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Hina Handa
Keyword(s):  
Oral Cavity ◽  
Soft Tissues ◽  
Clinical Manifestations ◽  
Oral Lesion ◽  
Diagnosis And Treatment ◽  
Diagnostic Skills ◽  
Treatment Plans ◽  
Common Group ◽  
Ulcerative Lesions

A brief overview of the superficial oral lesion Oral mucosal lesions are a broad group of lesions which are located in the soft tissues of the oral cavity identified by its specific etiology, clinical manifestations, differential diagnosis and treatment. White lesions of the oral cavity constitute a rather common group of lesions that are encountered during routine clinical dental practice. The process of clinical diagnosis and treatment planning is of great concern to the patient as it determines the prognosis. There should be in-depth knowledge to the consultant about the varied clinical features, etiology of the disease and various treatment plans. Clinical diagnostic skills and ideal judgment forms the key to successful management of white lesions of the oral cavity This review will discuss many of the most common intraoral white lesions including their clinical presentation, how to make an accurate diagnosis

Aumento de coroa estética sem elevação de retalho – abordagem minimamente invasiva

2020 ◽  
Vol 12 (45) ◽  
pp. 34-39
Author(s):  
Flavia Sukekava ◽  
Julia Helena Luiz ◽  
Paloma Palma ◽  
Jaques Luiz
Keyword(s):  
Minimally Invasive ◽  
Correct Diagnosis ◽  
Case Series ◽  
Minimally Invasive Techniques ◽  
Bone Removal ◽  
Use Of Technology ◽  
Treatment Plans ◽  
Invasive Techniques ◽  
Crown Lengthening ◽  
Gummy Smile

Gummy smile is a characteristic in which the patient exposes more than 2 mm of keratinized gingiva in forced smile. With a multifactorial cause, its correct planning depends directly on the correct diagnosis. Usually, the procedures that involve manipulation and the enlargement of the aesthetical crown lengthening are surgical. The objective of this case series was to show the advantages of surgical crown augmentation surgery in aesthetic areas with minimally invasive techniques. Three cases of gummy smile were presented, with different treatment plans and techniques for execution. In the 3 cases, bone removal was performed with piezoelectric ultrasound, which made the postoperative more comfortable for patients. These cases illustrate the use of technology to reduce morbidity in patients who need to undergo bone removal to treat gingival smile.

Imaging Features of Primary Tumors of the Hand

2020 ◽  
Vol 16 ◽  
Author(s):  
Filippo Boriani ◽  
Edoardo Raposio ◽  
Costantino Errani
Keyword(s):  
Soft Tissue ◽  
Soft Tissues ◽  
Epithelioid Sarcoma ◽  
Case Series ◽  
Malignant Neoplasm ◽  
Benign Tumors ◽  
Imaging Features ◽  
Primary Tumors ◽  
Therapeutic Decisions ◽  
Tumors Of The Hand

: Musculoskeletal tumors of the hand are a rare entity and are divided into skeletal and soft tissue tumors. Either category comprises benign and malignant or even intermediate tumors. Basic radiology allows an optimal resolution of bone and related soft tissue areas, ultrasound and more sophisticated radiologic tools such as scintigraphy, CT and MRI allow a more accurate evaluation of tumor extent. Enchondroma is the most common benign tumor affecting bone, whereas chondrosarcoma is the most commonly represented malignant neoplasm localized to hand bones. In the soft tissues ganglions are the most common benign tumors and epithelioid sarcoma is the most frequently represented malignant tumor targeting hand soft tissues. The knowledge regarding diagnostic and therapeutic management of these tumors is often deriving from small case series, retrospective studies or even case reports. Evidences from prospective studies or controlled trials are limited and for this lack of clear and supported evidences data from the medical literature on the topic are controversial, in terms of demographics, clinical presentation, diagnosis prognosis and therapy.The correct recognition of the specific subtype and extension of the tumor through first line and second line radiology is essential for the surgeon, in order to effectively direct the therapeutic decisions.

scholarly journals Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 268
Author(s):  
Marta Ferrari ◽  
Stefano Stagi
Keyword(s):  
Down Syndrome ◽  
Autoimmune Diseases ◽  
Normal Population ◽  
Underlying Mechanism ◽  
Short Review ◽  
Immune Dysregulation ◽  
Infectious Complications ◽  
Genetic Syndromes ◽  
Genetic Syndrome

Within immune system-related diseases, autoimmunity has always represented a field of great interest, although many aspects remain poorly understood even today. Genetic syndromes associated with immunity disorders are common and represent an interesting model for a better understanding of the underlying mechanism of autoimmunity predisposition. Among these conditions, Down syndrome (DS) certainly deserves special attention as it represents the most common genetic syndrome associated with immune dysregulation, involving both innate and adaptive immunity. Autoimmunity represents a well-known complication of DS: it is estimated that people affected by this disease present a risk four to six times higher than the normal population to develop autoimmune diseases such as celiac disease, type 1 diabetes mellitus, and hypo- or hyperthyroidism. Several factors have been considered as possible etiology, including genetic and epigenetic modifications and immune dysregulation. In times in which the life expectancy of people with DS has been extremely prolonged, thanks to improvements in the diagnosis and treatment of congenital heart disease and infectious complications, knowledge of the mechanisms and proper management of autoimmune diseases within this syndrome has become essential. In this short review, we aim to report the current literature regarding the genetic, immune, and environmental factors that have been proposed as the possible underlying mechanism of autoimmunity in individuals with DS, with the intent to provide insight for a comprehensive understanding of these diseases in genetic syndromes.

scholarly journals Topical Treatments and Their Molecular/Cellular Mechanisms in Patients with Peripheral Neuropathic Pain—Narrative Review

Pharmaceutics ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 450
Author(s):  
Magdalena Kocot-Kępska ◽  
Renata Zajączkowska ◽  
Joanna Mika ◽  
David J. Kopsky ◽  
Jerzy Wordliczek ◽  
...  
Keyword(s):  
Neuropathic Pain ◽  
Pain Management ◽  
Clinical Studies ◽  
Neuronal Cells ◽  
Case Series ◽  
Narrative Review ◽  
Peripheral Sensitization ◽  
Cellular Mechanisms ◽  
Peripheral Neuropathic Pain ◽  
Topical Treatments

Neuropathic pain in humans results from an injury or disease of the somatosensory nervous system at the peripheral or central level. Despite the considerable progress in pain management methods made to date, peripheral neuropathic pain significantly impacts patients’ quality of life, as pharmacological and non-pharmacological methods often fail or induce side effects. Topical treatments are gaining popularity in the management of peripheral neuropathic pain, due to excellent safety profiles and preferences. Moreover, topical treatments applied locally may target the underlying mechanisms of peripheral sensitization and pain. Recent studies showed that peripheral sensitization results from interactions between neuronal and non-neuronal cells, with numerous signaling molecules and molecular/cellular targets involved. This narrative review discusses the molecular/cellular mechanisms of drugs available in topical formulations utilized in clinical practice and their effectiveness in clinical studies in patients with peripheral neuropathic pain. We searched PubMed for papers published from 1 January 1995 to 30 November 2020. The key search phrases for identifying potentially relevant articles were “topical AND pain”, “topical AND neuropathic”, “topical AND treatment”, “topical AND mechanism”, “peripheral neuropathic”, and “mechanism”. The result of our search was 23 randomized controlled trials (RCT), 9 open-label studies, 16 retrospective studies, 20 case (series) reports, 8 systematic reviews, 66 narrative reviews, and 140 experimental studies. The data from preclinical studies revealed that active compounds of topical treatments exert multiple mechanisms of action, directly or indirectly modulating ion channels, receptors, proteins, and enzymes expressed by neuronal and non-neuronal cells, and thus contributing to antinociception. However, which mechanisms and the extent to which the mechanisms contribute to pain relief observed in humans remain unclear. The evidence from RCTs and reviews supports 5% lidocaine patches, 8% capsaicin patches, and botulinum toxin A injections as effective treatments in patients with peripheral neuropathic pain. In turn, single RCTs support evidence of doxepin, funapide, diclofenac, baclofen, clonidine, loperamide, and cannabidiol in neuropathic pain states. Topical administration of phenytoin, ambroxol, and prazosin is supported by observational clinical studies. For topical amitriptyline, menthol, and gabapentin, evidence comes from case reports and case series. For topical ketamine and baclofen, data supporting their effectiveness are provided by both single RCTs and case series. The discussed data from clinical studies and observations support the usefulness of topical treatments in neuropathic pain management. This review may help clinicians in making decisions regarding whether and which topical treatment may be a beneficial option, particularly in frail patients not tolerating systemic pharmacotherapy.

scholarly journals Migration and embedding of dental foreign bodies in the soft tissues of the maxilla: A case series

2021 ◽  
Author(s):  
Noritaka Ohga ◽  
Chiharu Satoh ◽  
Hironobu Hata ◽  
Ken-ichiro Sakata ◽  
Jun Sato ◽  
...  
Keyword(s):  
Foreign Bodies ◽  
Soft Tissues ◽  
Case Series
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