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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 -
Clinical Oral Investigations Mar 2021Agnathia-otocephaly complex is a rare condition characterized by mandibular hypoplasia or agnathia, ear anomalies (melotia/synotia) and microstomia with aglossia. This... (Review)
Review
OBJECTIVES
Agnathia-otocephaly complex is a rare condition characterized by mandibular hypoplasia or agnathia, ear anomalies (melotia/synotia) and microstomia with aglossia. This severe anomaly of the first branchial arch is most often lethal. The estimated incidence is less than 1 in 70.000 births, with etiologies linked to both genetic and teratogenic factors. Most of the cases are sporadic. To date, two genes have been described in humans to be involved in this condition: OTX2 and PRRX1. Nevertheless, the overall proportion of mutated cases is unknown and a significant number of patients remain without molecular diagnosis. Thus, the involvement of other genes than OTX2 and PRRX1 in the agnathia-otocephaly complex is not unlikely. Heterozygous mutations in Cnbp in mice are responsible for mandibular and eye defects mimicking the agnathia-otocephaly complex in humans and appear as a good candidate. Therefore, in this study, we aimed (i) to collect patients presenting with agnathia-otocephaly complex for screening CNBP, in parallel with OTX2 and PRRX1, to check its possible implication in the human phenotype and (ii) to compare our results with the literature data to estimate the proportion of mutated cases after genetic testing.
MATERIALS AND METHODS
In this work, we describe 10 patients suffering from the agnathia-otocephaly complex. All of them benefited from array-CGH and Sanger sequencing of OTX2, PRRX1 and CNBP. A complete review of the literature was made using the Pubmed database to collect all the patients described with a phenotype of agnathia-otocephaly complex during the 20 last years (1998-2019) in order (i) to study etiology (genetic causes, iatrogenic causes…) and (ii), when genetic testing was performed, to study which genes were tested and by which type of technologies.
RESULTS
In our 10 patients' cohort, no point mutation in the three tested genes was detected by Sanger sequencing, while array-CGH has allowed identifying a 107-kb deletion encompassing OTX2 responsible for the agnathia-otocephaly complex phenotype in 1 of them. In 4 of the 70 cases described in the literature, a toxic cause was identified and 22 out the 66 remaining cases benefited from genetic testing. Among those 22 patients, 6 were carrying mutation or deletion in the OTX2 gene and 4 in the PRRX1 gene. Thus, when compiling results from our cohort and the literature, a total of 32 patients benefited from genetic testing, with only 34% (11/32) of patients having a mutation in one of the two known genes, OTX2 or PRRX1.
CONCLUSIONS
From our work and the literature review, only mutations in OTX2 and PRRX1 have been found to date in patients, explaining around one third of the etiologies after genetic testing. Thus, agnathia-otocephaly complex remains unexplained in the majority of the patients, which indicates that other factors might be involved. Although involved in first branchial arch defects, no mutation in the CNBP gene was found in this study. This suggests that mutations in CNBP might not be involved in such phenotype in humans or that, unlike in mice, a compensatory effect might exist in humans. Nevertheless, given that agnathia-otocephaly complex is a rare phenotype, more patients have to be screened for CNBP mutations before we definitively conclude about its potential implication. Therefore, this work presents the current state of knowledge on agnathia-otocephaly complex and underlines the need to expand further the understanding of the genetic bases of this disorder, which remains largely unknown.
CLINICAL RELEVANCE
We made here an update and focus on the clinical and genetic aspects of agnathia-otocephaly complex as well as a more general review of craniofacial development.
Topics: Animals; Craniofacial Abnormalities; Humans; Jaw Abnormalities; Mice; Mutation; Phenotype
PubMed: 32643087
DOI: 10.1007/s00784-020-03443-w -
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 -
Current Opinion in Otolaryngology &... Aug 2017To review the recent literature in regards to complications after reconstruction of Mohs defects, outline common pitfalls and to discuss the literature on avoiding... (Review)
Review
PURPOSE OF REVIEW
To review the recent literature in regards to complications after reconstruction of Mohs defects, outline common pitfalls and to discuss the literature on avoiding complications as outlined per aesthetic subunit.
RECENT FINDINGS
Complications in facial Mohs reconstruction commonly consist of infection, wound necrosis and dehiscence, hematoma and suboptimal scarring. However, site-specific complications such as hairline or eyebrow distortion, eyelid retraction or ectropion, nasal contour abnormality, alar retraction, nasal valve compromise, significant facial asymmetry or even oral incompetence must also be considered.
SUMMARY
A successful reconstruction mimics the premorbid state and maintains function. The use of perioperative antibiotics, sterile technique, meticulous hemostasis, subcutaneous dissection and deep sutures to minimize wound tension should be considered for all Mohs reconstructions. Cartilage grafting can minimize nasal deformity and obstruction. Reconstruction near the lower eyelid should employ periosteal suspension sutures to minimize downward tension and lid retraction. Perioral complications, such as microstomia and oral incompetence, typically improve with time and therapy. Always consider secondary procedures such as dermabrasion, steroid injection, scar revision and laser resurfacing to help optimize aesthetic outcome.
Topics: Cartilage; Contracture; Humans; Mohs Surgery; Nose; Nose Neoplasms; Postoperative Complications; Plastic Surgery Procedures; Surgical Flaps; Surgical Wound Dehiscence; Surgical Wound Infection; Suture Techniques
PubMed: 28509671
DOI: 10.1097/MOO.0000000000000375 -
Autopsy & Case Reports 2020
PubMed: 32185147
DOI: 10.4322/acr.2020.152 -
The Journal of Craniofacial Surgery Sep 2014Distraction osteogenesis (DO) is a biologic process of new bone formation between the surfaces of bone segments that are gradually separated by incremental traction. It... (Review)
Review
BACKGROUND
Distraction osteogenesis (DO) is a biologic process of new bone formation between the surfaces of bone segments that are gradually separated by incremental traction. It consists of 4 primary phases, namely, corticotomy and device placement, a latency period, active distraction, and consolidation. The objectives of the current study were to review DO as it applies to maxillomandibular defects and to share our clinical experience in the cases we have done.
METHODS
A clinical narrative review of the literature was performed to evaluate the use and efficacy of maxillomandibular osteogenesis in maxillomandibular defects. A systematic search of the literature was performed using PubMed, with special interest in the history of DO and its application in dentistry and maxillofacial surgery. medical subject headings terms included surgical procedures, osteogenesis, distraction, and orthodontics. Two cases of maxillomandibular DO managed at the Aminu Kano Teaching Hospital (AKTH), Nigeria, were reported and discussed.
RESULTS
Articles involving maxillary and midface distractions, bilateral distraction for airway obstruction, and distraction for hemifacial microstomia were all reviewed. In the first case reported, a unidirectional distractor was used to achieve simultaneous mandibular lengthening and maxillary occlusal correction. Gains of 10 mm in mandibular ramal height and 23 mm in corpus length were achieved in the second reported case, using a bidirectional distractor. The literature search revealed no previous Nigerian reports of maxillomandibular DO.
CONCLUSIONS
The DO is a viable and available treatment option for reconstructing maxillomandibular discrepancies and accompanying soft and hard tissue deficiencies.
Topics: Adolescent; Airway Obstruction; Child; Female; Humans; Male; Mandibular Advancement; Mandibular Reconstruction; Maxilla; Microstomia; Oral Surgical Procedures; Osteogenesis, Distraction
PubMed: 25102394
DOI: 10.1097/SCS.0000000000000907 -
Current Opinion in Otolaryngology &... Dec 2023This review describes the fundamental principles and recent advances in the reconstruction of total lower lip defects to restore peri-oral aesthetic and function. (Review)
Review
PURPOSE OF REVIEW
This review describes the fundamental principles and recent advances in the reconstruction of total lower lip defects to restore peri-oral aesthetic and function.
RECENT FINDINGS
Modifications to the Abbe flap and visor flap have recently been described. Recent advances to free flap techniques have focused on dynamic restoration of lower lip sling function after reconstruction. This involves the transfer of innervated or noninnervated muscle tissue to reconstruct the lower lip to restore the sphincter function of the lips.
SUMMARY
The reconstructive goals for a full thickness lower lip defect are to restore a functional oral sphincter, replace mucosal and external skin, and maintain a functional size of the oral aperture. Local flap reconstruction of sub-total lower lip defects is possible, but use of local flaps for total lip reconstruction often leads to microstomia. Several static and dynamic free tissue transfer options exist for lower lip reconstruction and have been summarized in this review.
Topics: Humans; Lip; Plastic Surgery Procedures; Surgical Flaps; Lip Neoplasms
PubMed: 37831498
DOI: 10.1097/MOO.0000000000000926 -
Journal of Gastroenterology and... Aug 2018
Topics: Enteral Nutrition; Female; Fibrosis; Humans; Jejunal Diseases; Microstomia; Middle Aged; Predictive Value of Tests; Raynaud Disease; Scleroderma, Systemic; Tomography, X-Ray Computed
PubMed: 29873115
DOI: 10.1111/jgh.14283 -
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