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Faculty Reviews 2021Systemic sclerosis (SSc) is a connective tissue disease characterized by progressive fibrosis of the skin and internal organs and has significant clinical sequelae.... (Review)
Review
Systemic sclerosis (SSc) is a connective tissue disease characterized by progressive fibrosis of the skin and internal organs and has significant clinical sequelae. Management of SSc cutaneous disease remains challenging and often is driven by extracutaneous manifestations. Methotrexate is the typical first-line therapy for patients with early progressive cutaneous disease. However, in patients with diffuse progressive skin disease and inflammatory arthritis, methotrexate or rituximab monotherapy should be considered. First-line therapy for patients with concomitant myositis includes methotrexate or intravenous immunoglobulin (IVIG). For patients with both cutaneous findings and interstitial lung disease, studies have suggested the efficacy of mycophenolate mofetil or rituximab. Second-line therapies, including UVA-1 phototherapy, IVIG, or rituximab, can be considered in patients with disease refractory to first-line treatments. Clinical trials investigating the utility of emerging therapies such as abatacept and tocilizumab in the treatment of SSc are under way, and preliminary results are promising. Nonetheless, all patients with SSc benefit from a gentle skin-care regimen to alleviate pruritis, which is a commonly reported symptom. Additional cutaneous manifestations of SSc include telangiectasias, calcinosis cutis, microstomia, and Raynaud's phenomenon. Telangiectasia may be managed with camouflage techniques, pulse dye laser, and intense pulse light. Calcinosis cutis therapy is guided by the size of the calcium deposits, although treatment options are limited. Mouth augmentation and oral stretching exercises are recommended for patients with reduced oral aperture. Raynaud's phenomenon is treated with a combination of lifestyle modification and calcium channel blockers, such as amlodipine. Overall, SSc is a clinically heterogenous disease that affects multiple organ systems. Providers should assess extracutaneous involvement and use evidence-based recommendations to select the most appropriate therapy for patients with SSc.
PubMed: 34131653
DOI: 10.12703/r/10-43 -
Orphanet Journal of Rare Diseases Jan 2019Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following:... (Review)
Review
CLINICAL DESCRIPTION
Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus. Neuro-cognitive function is not impaired.
EPIDEMIOLOGY
Population prevalence of FBS is unknown.
AETIOLOGY
Environmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. White fibrous tissue within histologically normal muscle fibres and complete replacement of muscle by fibrous tissue, which behaves like tendinous tissue, are observed.
MANAGEMENT
Optimal care seems best achieved through a combination of early craniofacial reconstructive surgery and intensive physiotherapy for most other problems. Much of the therapeutic focus is on the areas of fibrous tissue replacement, which are either operatively released or gradually stretched with physiotherapy to reduce contractures. Operative procedures and techniques that do not account for the unique problems of the muscle and fibrous tissue replacement have poor clinical and functional outcomes. Important implications exist to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well.
Topics: Abnormalities, Multiple; Contracture; Craniofacial Dysostosis; Humans; Limb Deformities, Congenital
PubMed: 30630514
DOI: 10.1186/s13023-018-0984-2 -
Journal of the Chinese Medical... Jul 2007Otocephaly is a rare lethal syndrome of microstomia, aglossia, agnathia, and synotia. This male infant was born to a 19-year-old, gravida 1, para 0, woman who received...
Otocephaly is a rare lethal syndrome of microstomia, aglossia, agnathia, and synotia. This male infant was born to a 19-year-old, gravida 1, para 0, woman who received routine prenatal check-up. Polyhydramnios, low-lying ears, and proboscis were noted by sonography at 29 weeks of gestation. Amniocentesis showed a normal karyotype of 46, XY. Premature rupture of membranes and preterm labor were noted at 32 weeks of gestation. A male infant was delivered preterm and died shortly after birth. The infant showed midline proboscis and absence of mandible. The simple, soft ears were extremely low-set and were near the midline of the neck. Otocephaly is regarded as the most severe form of first arch anomalies. Prenatal diagnosis should be dependent on ultrasound analysis. In the face of polyhydramnios, otocephaly is one of the possible fetal anomalies.
Topics: Abnormalities, Multiple; Adult; Ear; Female; Humans; Infant, Newborn; Male; Microstomia; Pregnancy; Syndrome; Ultrasonography, Prenatal
PubMed: 17631468
DOI: 10.1016/S1726-4901(07)70009-6 -
Journal of Indian Prosthodontic Society 2016The Prosthetic rehabilitation of microstomia patients presents difficulties at all the stages. The difficulty starts with the preliminary impression making. This is due... (Review)
Review
The Prosthetic rehabilitation of microstomia patients presents difficulties at all the stages. The difficulty starts with the preliminary impression making. This is due to the tongue rigidity and the decreased oral opening. A maximum oral opening which is smaller than the size of the tray can make prosthetic treatment challenging. Due to the restricted mouth opening, insertion and removal of the impression trays is extremely cumbersome and various modifications of the trays have been used in the past. Among these are the flexible trays and the sectional trays used with different modes of reassembling the segments extra orally after the impression is made. This article reviews the literature published from 1971 to 2015 concerning preliminary impression techniques used in making impressions for patients with microstomia based on various tray designs. An electronic search was performed across three databases (PubMed, Science Direct and Google Scolar) for relevant citations. The keywords/combinations used for the search were microstomia, limited/constricted/restricted mouth opening/oral access, trismus, sectional trays, impressions and prosthetic/prosthodontic rehabilitation. The search was limited to papers written in English which resulted in a total of 45 related articles of which 17 articles were included for discussion of this review.
PubMed: 27621540
DOI: 10.4103/0972-4052.186400 -
Journal of Scleroderma and Related... Feb 2018Orofacial involvement is common and often understated in the treatment clinical guidelines of systemic sclerosis. It impairs daily life by having repercussions on... (Review)
Review
Orofacial involvement is common and often understated in the treatment clinical guidelines of systemic sclerosis. It impairs daily life by having repercussions on comfort, nutrition, aesthetics and self-confidence. This review aimed at describing exhaustively the different orofacial consequences of systemic sclerosis. A systematic search was conducted using four databases (PubMed, Cochrane Library, Dentistry & Oral Sciences Source and SCOPUS) up to December 2016 according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses. Grey literature and hand search were also included. To be eligible for the inclusion, studies needed to meet the following criteria: randomised controlled trials, cross-sectional studies, case-control studies, pilot studies or cohort studies and full text available in English or French, with abstract. The studies had to concern at least 30 patients suffering from systemic sclerosis and having clinical and radiological oropharyngeal examination. The diagnosis of systemic sclerosis had to be determined according to precise recommendations; the retrieved oropharyngeal manifestations had to affect hard or soft tissues of the mouth and/or pharynx and needed to be evaluated with clinical measures. Study selection, risk bias assessment (Newcastle-Ottawa scale) and data extraction were performed by two independent reviewers. The retrieved features were microstomia and xerostomia associated with real hyposialia, temporomandibular joint symptoms, high caries experience, periodontal diseases as well as an increased risk of oral cavity and pharynx cancer. Early diagnosis enabling early management, prevention and oral hygiene is the key to avoid complicated and invasive procedures. Studies with higher level of evidence remain necessary to create standardised protocols.
PubMed: 35382129
DOI: 10.1177/2397198317746966 -
Journal of Maxillofacial and Oral... Dec 2013Freeman-Sheldon syndrome (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status... (Review)
Review
Freeman-Sheldon syndrome (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. It is part of the nosologic group of pathologies currently known as distal arthrogryposis as reported by Hall et al. (Am J Med Genet 11:185-239, 1982 [1]). It is a rare disorder and its exact prevalence is unknown. Our objective is to report a case of FSS presenting with microstomia and add a brief review of the literature for similar cases.
PubMed: 24431877
DOI: 10.1007/s12663-012-0392-4 -
Indian Journal of Dental Research :... 2018This review was intended to discuss the various possible modifications suggested in the literature for prosthetic steps and surgical corrective procedures in... (Review)
Review
PURPOSE
This review was intended to discuss the various possible modifications suggested in the literature for prosthetic steps and surgical corrective procedures in nonresponding or complicated cases during rehabilitation of patients with restricted mouth opening.
MATERIAL AND METHODS:
Medline, PubMed, and Google were searched electronically for articles using keywords: microstomia and treatment options for restricted mouth opening. The various articles on prosthodontic rehabilitation in microstomia were segregated. From these, various modifications in the prosthetic steps were reviewed.
RESULTS:
Oral hygiene maintenance is difficult for patient either due to limited access or due to associated lack of manual dexterity, so dental decay and periodontal problems are more extensive in such patients; hence, tooth loss is a common finding. All prosthetic procedures require wide mouth opening to carry out various steps, starting from tray placement during impression making to the final prosthesis insertion, especially removable prosthesis. Various prosthetic modifications given by authors are included in this review for each step in prosthodontic management. A total of eight stock tray designs, 12 custom tray designs, and 17 removable prosthesis designs are discussed along with fixed (either tooth-supported or implant-supported) and maxillofacial prosthesis. However, some patients require surgical intervention also for the correction of microstomia either for function or for esthetic purpose before prosthetic rehabilitation and are also enumerated here.
CONCLUSION
Among all prosthetic restorative options, removable prosthesis is most difficult for dentist to fabricate as conventional methods are either very difficult or impossible to apply. To get a more accurate final prosthesis, we need to modify these steps according to the existing case. Several modifications available are discussed here which can help while managing these patients.
Topics: Dental Implantation; Dental Impression Technique; Denture Design; Humans; Maxillofacial Prosthesis; Microstomia
PubMed: 29652018
DOI: 10.4103/ijdr.IJDR_544_16 -
GMS Interdisciplinary Plastic and... 2022The lip has functional and aesthetic importance. Lip defects occur due to the variety of etiology and the choice of their reconstruction has profound effect on...
The lip has functional and aesthetic importance. Lip defects occur due to the variety of etiology and the choice of their reconstruction has profound effect on functions and cosmesis. There are multiple options available for reconstruction according to defect size, but superiority of one method over another is still debated and hence the methods and their outcome were analyzed prospectively. Twenty-one patients with all sizes and locations of defects in upper and lower lip with acquired etiology were included in the evaluation. Reconstruction was performed according to defect size, availability of local/regional and distant donor tissue, defect location, patients' comorbid conditions and patients' preference. Patients were assessed at 1 month and 6 months postoperatively. Observers' and patients' input were also taken into account for outcome. Out of 21 patients, 5 free radial artery forearm flap reconstructions, 4 nasolabial flap reconstructions, 5 primary closures of defect, 4 Estlander flap reconstructions, 2 lip advancements, and one Karapandzic flap reconstruction were done. Free flap and nasolabial flap had hypoesthesia and incompetence if commissure is reconstructed and problem of bulk, restricted mobility and vermilion mismatch. Local and lip flaps were associated with decreased stoma size and some form of local scarring and asymmetry. However, all patients were satisfied with the functional and aesthetic outcome. Local flaps are better in terms of functional and aesthetic outcome but with some degree of microstomia which was well tolerated by most patients. Regional and distant flaps provide reconstruction where no other option is available and provide good functional support and acceptable cosmesis.
PubMed: 35465154
DOI: 10.3205/iprs000163 -
World Journal of Gastroenterology Aug 2021Systemic sclerosis is a connective tissue disease that presents with significant gastrointestinal involvement, commonly in the esophagus. Dysphagia is a common clinical... (Review)
Review
Systemic sclerosis is a connective tissue disease that presents with significant gastrointestinal involvement, commonly in the esophagus. Dysphagia is a common clinical manifestation of systemic sclerosis and is strongly related to esophageal dysmotility. However, there are multiple other contributing factors in each step in the physiology of swallowing that may contribute to development of severe dysphagia. The oral phase of swallowing may be disrupted by poor mastication due to microstomia and poor dentition, as well as by xerostomia. In the pharyngeal phase of swallowing, pharyngeal muscle weakness due to concurrent myositis or cricopharyngeal muscle tightening due to acid reflux can cause disturbance. The esophageal phase of swallowing is most commonly disturbed by decreased peristalsis and esophageal dysmotility. However, it can also be affected by obstruction from chronic reflux changes, pill-induced esophagitis, or Candida esophagitis. Other contributing factors to dysphagia include difficulties in food preparation and gastroparesis. Understanding the anatomy and physiology of swallowing and evaluating systemic sclerosis patients presenting with dysphagia for disturbances in each step can allow for development of better treatment plans to improve dysphagia and overall quality of life.
Topics: Deglutition Disorders; Esophagitis, Peptic; Humans; Manometry; Quality of Life; Scleroderma, Systemic
PubMed: 34497445
DOI: 10.3748/wjg.v27.i31.5201 -
Indian Journal of Dental Research :... 2009Microstomia is defined as an abnormally small oral orifice which can be due to various factors. Microstomia is a definite prosthodontic hindrance to carry out the... (Review)
Review
Microstomia is defined as an abnormally small oral orifice which can be due to various factors. Microstomia is a definite prosthodontic hindrance to carry out the different treatment successfully. To rehabilitate a patient with microstomia, successfully, the methods and designs incorporated in the prosthesis have to be modified. In the past, various techniques have been tried, incorporating certain biological and scientific methods to rehabilitate patients with microstomia. This article reviews the previously described treatment modalities in case of patients with microstomia.
Topics: Dental Impression Technique; Denture Design; Denture, Complete; Humans; Jaw, Edentulous; Microstomia
PubMed: 20139576
DOI: 10.4103/0970-9290.59458