Oral ulceration in Stüve-Wiedemann syndrome: a new presentation

2021 ◽  
Vol 14 (8) ◽  
pp. e241530
Author(s):  
Kiran Singh ◽  
Khaled Borghol ◽  
Rhodri Williams ◽  
Kevin McMillan
Keyword(s):  
Autosomal Recessive ◽  
Pain Threshold ◽  
Maxillofacial Surgery ◽  
Autosomal Recessive Disorder ◽  
Oral And Maxillofacial Surgery ◽  
General Anaesthetic ◽  
Oral Lesions ◽  
Skeletal Malformations ◽  
Intralesional Steroid ◽  
Pain Patients

Stüve-Wiedemann syndrome (SWS) is a rare, autosomal recessive disorder, causing dysautonomia and multisystem failure. Symptoms include skeletal malformations, restricted joint mobility and desensitisation to pain. Patients with SWS presenting with intraoral lesions are extremely rare and this is probably due to their shortened lifespan. We present a case of a 9-month-old patient who presented to our Oral and Maxillofacial Surgery (OMFS)Unit with a chronic inflamed ulcer affecting the tongue, secondary to trauma from erupting central incisors. We believe that depapillation in conjunction with an increased pain threshold contributed to its development. The patient was successfully treated by extraction of the lower central incisors and intralesional steroid injections under general anaesthetic. This case highlights that patients with SWS can present to the OMFS clinician with oral lesions and that they can be safely managed under general anaesthesia.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

scholarly journals Granulomatosis with polyangiitis: potentially lethal gingival lesions presenting to the dentist

2019 ◽  
Vol 12 (4) ◽  
pp. e229607 ◽  
Author(s):  
Amy Patrick ◽  
Keith Altman
Keyword(s):  
Rare Disease ◽  
Granulomatosis With Polyangiitis ◽  
Maxillofacial Surgery ◽  
Oral And Maxillofacial Surgery ◽  
Oral Lesions ◽  
Blood Tests ◽  
Eosinophilic Infiltrate ◽  
Gingival Bleeding ◽  
History Of ◽  
Surgery Department

Gingival pathology is a daily presentation, however a small number of systemic conditions can manifest similar to a common gingival condition and have fatal results. Dentist referred 56-year-old woman to Oral and Maxillofacial Surgery department with a 2-week medical history of gingival bleeding not responding to local measures. Biopsy showed eosinophilic infiltrate and vasculitis, and blood tests showed positive markers including cytoplasmic antineutrophil cytoplasmatic antibodies. Granulomatosis with polyangiitis is a rare disease affecting the respiratory tract, blood vessels and kidneys. Oral lesions are rarely the primary presenting feature. When left untreated, most cases are fatal within a year of diagnosis. The diagnosis can only be made when certain criteria are found, including granular oral lesions exhibiting an eosinophilic inflammatory infiltrate on biopsy. With 5% of cases showing intraoral lesions as the primary feature, it is essential that dentists have the knowledge of this rare disease to refer and not to treat as a common gingival condition.

scholarly journals The accuracy value of the dentist’s clinical diagnosis in oral lesions performed on biopsy

2013 ◽  
Vol 25 (2) ◽  
Author(s):  
Galih Fata Anadza ◽  
Endang Syamsudin ◽  
Abel Tasman Yuza
Keyword(s):  
General Hospital ◽  
Clinical Diagnosis ◽  
Clinical Examination ◽  
Oral Surgery ◽  
Histopathological Examination ◽  
Maxillofacial Surgery ◽  
Oral And Maxillofacial Surgery ◽  
Histopathological Diagnosis ◽  
Oral Lesions ◽  
The Difference

Introduction: The diagnosis of a pathological disorder can be made in various stages, namely history taking, clinical examination and supporting examination. Clinical diagnosis is a diagnosis obtained from anamnesis and the results of clinical examination. Histopathological diagnosis is a diagnosis obtained from a microscopic examination of tissue. Clinical diagnosis and histopathological examination results may differ. The aim of the study was to obtain the accuracy value of the dentist’s clinical diagnosis by calculating the number of differences between the clinical diagnosis and the results of the histopathological examination of patients who were biopsied in the Department of Oral Surgery of General Hospital Dr. Hasan Sadikin Bandung. Methods: A retrospective descriptive study of cases of pathological abnormalities biopsied in the Department of Oral and Maxillofacial Surgery of General Hospital Dr Hasan Sadikin Bandung. The total number of study samples was 109 medical records of patients with biopsy. Results: The accuracy value of the clinical diagnosis of dentists was 76%, where the difference between the clinical diagnosis and the histopathological examination was 24%. The most common type of disorder with the greatest difference in diagnosis is ameloblastoma followed by papilloma and mucocele. Conclusion: The accuracy value of the clinical diagnosis of dentists in oral lesions performed biopsy is 76%.

scholarly journals Metastatic tumors to the oral cavity – A retrospective analysis

2021 ◽  
pp. 10
Author(s):  
Keyword(s):  
Oral Cavity ◽  
Retrospective Analysis ◽  
General Hospital ◽  
Demographic Data ◽  
Maxillofacial Surgery ◽  
Primary Site ◽  
Oral And Maxillofacial Surgery ◽  
Oral Lesions ◽  
Metastatic Tumors ◽  
Rare Finding

Objectives: Metastatic tumors to the oral cavity are observed extremely rarely, accounting for approximately 1% of all malignant oral lesions. The purpose of our study is to record and analyze the data of the patients who revealed metastasis to the oral cavity. Material and Methods: The records of the patients diagnosed with oral metastases who were admitted to Oral and Maxillofacial Surgery Departments from 1996 to 2018 were reviewed and analyzed for demographic data and outcomes. Results: Over a period of 22 years (from 1996 to 2018), 22 patients were admitted to the Oral and Maxillofacial Surgery Departments of General Hospital G. Papanikolaou and Theageneion Anticancer Hospital with oral metastasic tumors from a distant primary site. Conclusions: Metastasis to the oral cavity is a very rare finding but it exists so we have to be aware of it and have in mind the possibility of this condition.

In the clinic

2018 ◽  
Author(s):  
Luke Cascarini ◽  
Clare Schilling ◽  
Ben Gurney ◽  
Peter Brennan
Keyword(s):  
Head And Neck ◽  
Bone Fractures ◽  
Maxillofacial Surgery ◽  
Soft Tissue Injuries ◽  
Oral And Maxillofacial Surgery ◽  
Oral Lesions ◽  
Skin Tumours ◽  
Orbital Floor Fractures ◽  
Mandible Fractures ◽  
Work Up

This chapter discusses oral and maxillofacial surgery in the clinic, including, Mandible fractures, Orbital floor fractures, Zygoma fractures, Maxillary fractures, Nose, naso-ethmoidal, and frontal bone fractures, Face and scalp soft tissue injuries, Dento-alveolar: assessment for extractions, Dento-alveolar: impacted teeth, Dento-alveolar: jaw pathologies, Temporomandibular joint problems, Oral and facial pain, Management of oral lesions, Management of neck lumps, Skin tumours, Work-up for major head and neck oncoplastic surgery, Reviewing head and neck cancer patients, Salivary gland diseases, Orthognathic patients, and Miscellaneous conditions in the clinic

scholarly journals Toluidine Staining as a Screening Tool for Soft Tissue Margins of Cancerous Oral Lesions

2020 ◽  
Author(s):  
aeman ali ◽  
Abdul Hafeez Sheikh ◽  
Waqas Ahmed Farooqui ◽  
Sara Fatima
Keyword(s):  
Toluidine Blue ◽  
Screening Tool ◽  
Early Stage ◽  
Treatment Plan ◽  
Maxillofacial Surgery ◽  
Blue Dye ◽  
Oral And Maxillofacial Surgery ◽  
Oral Lesions ◽  
True Negative ◽  
Toluidine Blue Dye

Abstract Background:As the world is becoming advanced, the number of diseases also seems to be increasing. Mouth cancer and oral lesions are known as dangerous and fatal diseases. The experimentation is in the process. The problem is not new; it has been the cause of deaths of many patients since many decades. The increase in cancer patients has been recorded up to 43% in the last 8.1 years and it has been observed that most of the cancerous cells are malignant at the time of diagnosis and treatment.It is mandatory for the physician or the dental experts to diagnose oral cancer in the early stage and remove the tumor along with safe margins to decrease the chances of reoccurrence of the disease.The objective of the study is to detect the usefulness of the toulidine blue dye as a cost effective, less time consuming and a user-friendly screening tool for the tumor margins intra-operatively.Methods:Fifty patients with biopsy proven oral squamous cell carcinoma who were advised surgical resection as a treatment plan, independent of the grade and stage of the tumor, by the department of Oral and Maxillofacial surgery of Dow University of Health Sciences were considered to undergo intra-operative toluidine blue dye staining and the results were compared and confirmed by the frozen biopsy section of the same margin.Results:Total fifty patients were participated in this study involving multiple margins. 86% agreement was present between the dye and the biopsy and the sensitivity of the dye appears to be 74% as 20 cases out of 27 showed true positive results yet specificity of the dye remains 100% as all 23 cases displayed true negative results. Conclusion:Toluidine blue dye has demonstrated to be a safe, convenient and time saving method of screening of the margins as it takes less than 5 minutes in its application and result starts to appear in within 3 to 5 minutes. Yet bigger lesions are yet to be focused as they have chances of giving false results. Moreover there is room for research in this aspect as the screening character of this dye is yet to be proved.

scholarly journals An oral lesion as the primary clinical manifestation of sarcoidosis

2017 ◽  
Vol 99 (5) ◽  
pp. e135-e136
Author(s):  
I Gill ◽  
J Siddiqi
Keyword(s):  
Clinical Presentation ◽  
Systemic Disease ◽  
Maxillofacial Surgery ◽  
Oral Lesion ◽  
Oral And Maxillofacial Surgery ◽  
Oral Lesions ◽  
Provisional Diagnosis ◽  
Periapical Granuloma ◽  
Surgery Department ◽  
Medicine Team

An oral lesion as the first clinical presentation of sarcoidosis is extremely rare. We present the case of a 39-year-old woman who was referred to the oral and maxillofacial surgery department with a persistent asymptomatic nodular lesion in the hard palate. This was located adjacent to a grossly carious upper first molar and a provisional diagnosis of chronic periapical granuloma was made. An incisional biopsy of the lesion was carried out, which unexpectedly revealed the presence of a non-caseating granulomatous inflammatory reaction. A referral was sent to the respiratory medicine team and a diagnosis was later confirmed of stage II sarcoidosis. This case report highlights the need for clinicians to be aware of all possible causes of oral lesions, including rare manifestations of underlying systemic disease.

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