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Rheumatology Advances in Practice 2021SSc often leads to fibrotic cutaneous involvement of the face and reduced oral aperture, with impaired food intake and oral hygiene. Oral exercises can increase oral...
OBJECTIVE
SSc often leads to fibrotic cutaneous involvement of the face and reduced oral aperture, with impaired food intake and oral hygiene. Oral exercises can increase oral aperture but are often hampered by low adherence rates. The aim of this mixed method study was to explore the feasibility, patient satisfaction and effectiveness of two exercise programmes in SSc-associated microstomia.
METHODS
Adult patients suffering from SSc and microstomia (maximal oral aperture <40 mm) were randomized to two groups. Group A exercised with a jaw motion device (Therabite), whereas group B performed mouth-stretching exercises. Patients were expected to exercise for 10 min, three times per day for 3 months. Patients were evaluated at baseline, 3 months (period without intervention), 6 months (after 3 months of intervention) and 9 months (post-intervention). At month 6, semi-structured one-to-one interviews were conducted.
RESULTS
We included six women and three men, median age 60 years and median disease duration 8 years. At 6 months, all patients in group A ( = 4) and four in group B ( = 5) improved, with a median of 9 and 7 mm, respectively. The adherence ranged between 63.7 and 98.9% in group A and between 48.5 and 97.4% in group B. The interview revealed three themes: drivers, challenges and perceived improvement.
CONCLUSION
Both interventions improved maximal oral aperture. The adherence to therapy was high, but none of the patients considered it feasible to continue practising three times per day. Future studies are needed in order to define feasible long-term exercise programmes.
PubMed: 34013159
DOI: 10.1093/rap/rkab017 -
Journal of Dental Research Jul 2024Scleroderma (systemic sclerosis, SSc) is an autoimmune fibrosing connective tissue disease of unknown etiology. SSc patients show increased levels of autoantibodies,... (Review)
Review
Scleroderma (systemic sclerosis, SSc) is an autoimmune fibrosing connective tissue disease of unknown etiology. SSc patients show increased levels of autoantibodies, profibrotic cytokines, and extracellular matrix remodeling enzymes that collectively cause activated (myo)fibroblasts, the effector cell type of fibrosis. Despite these impacts, no disease-modifying therapy exists; individual symptoms are treated on a patient-to-patient basis. SSc research has been principally focused on symptoms observed in the lung and skin. However, SSc patients display significant oral complications that arise due to fibrosis of the not only skin, causing microstomia, but also the gastrointestinal tract, causing acid reflux, and the oral cavity itself, causing xerostomia and gingival recession. Due to these complications, SSc patients have impaired quality of life, including periodontitis, tooth loss, reduced tongue mobility, and malnutrition. Indeed, due to their characteristic oral presentation, SSc patients are often initially diagnosed by dentists. Despite their clinical importance, the oral complications of SSc are severely understudied; high-quality publications on this topic are scant. However, SSc patients with periodontal complications possess increased levels of matrix metalloproteinase-9 and chemokines, such as interleukin-6 and chemokine (C-X-C motif) ligand-4. Although many unsuccessful clinical trials, mainly exploring the antifibrotic effects of anti-inflammatory agents, have been conducted in SSc, none have used oral symptoms, which may be more amenable to anti-inflammatory drugs, as clinical end points. This review summarizes the current state of knowledge regarding oral complications in SSc with the goal of inspiring future research in this extremely important and underinvestigated area.
Topics: Humans; Scleroderma, Systemic; Mouth Diseases; Microstomia; Periodontal Diseases; Xerostomia; Fibrosis
PubMed: 38779873
DOI: 10.1177/00220345241249408 -
Aesthetic Plastic Surgery Aug 2017Systemic sclerosis (SSc) is an autoimmune disease with multisystem involvement, dominated by a general fibrosis. The early stage of the disease is associated with...
BACKGROUND
Systemic sclerosis (SSc) is an autoimmune disease with multisystem involvement, dominated by a general fibrosis. The early stage of the disease is associated with progressive damage to microcirculation, particularly in the respiratory tract, the gastrointestinal tract and skin. The face assumes a typical appearance characterized by microstomia (reduction of mouth opening) and microcheilia (thinning of the lips). These conditions cause a considerable reduction in performance status of patients. We treated them by fat grafting, rich in adipose stem cells, and we evaluated through time clinical, functional and aesthetic evaluation of oral pathology associated with SSc.
MATERIALS AND METHOD
From September 2014 to May 2016, we enrolled and treated seven patients in the plastic, reconstructive and aesthetic surgery clinic. Through time, we evaluated the following parameters: evaluation of mouth opening (maximum opening in superior-inferior and lateral directions) and lip thicknesses, both measured by doctors of the aforementioned operating unit; variation in the quality of life as perceived by patients according to the MHISS scale (Mouth Handicap Systemic Sclerosis); variation in severity of labial fibrosis assessed by microscopic analysis of pre- and post-fat transfer samples in the pathology clinic; safety of the protocol, according to the management of side effects resulting from the procedure; aesthetic evaluation, made by external observers and non-experts in the field, on pre- and post-operative photographs.
RESULTS AND CONCLUSIONS
We reported satisfying results, both functionally and aesthetically, for all parameters except one, for which the sample size might have proven critical. These data should be a starting point for further experimental research and clinical trials.
LEVEL OF EVIDENCE IV
This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
Topics: Adipose Tissue; Adult; Aged; Cohort Studies; Esthetics; Female; Graft Survival; Humans; Italy; Lip Diseases; Male; Microstomia; Middle Aged; Retrospective Studies; Risk Assessment; Scleroderma, Systemic; Stem Cell Transplantation; Surgery, Plastic; Tissue Transplantation; Transplantation, Autologous; Treatment Outcome
PubMed: 28597066
DOI: 10.1007/s00266-017-0904-1 -
Special Care in Dentistry : Official... Sep 2022Autoimmune polyglandular syndrome type I (APS-I) is a rare condition of autosomal recessive and monogenic inheritance, which is characterized clinically by at least two...
AIMS
Autoimmune polyglandular syndrome type I (APS-I) is a rare condition of autosomal recessive and monogenic inheritance, which is characterized clinically by at least two signs of the classic triad: mucocutaneous candidosis, hypoparathyroidism, and Addison's disease. This study aims to report the oral manifestations of APS-I in a 42-year-old woman, who attended the Special Care Dentistry Center.
METHODS AND RESULTS
The patient presented with hypoparathyroidism, diabetes mellitus, and autoimmune hepatitis. Chronic hyperplastic candidosis (CHC) was the main oral manifestation and it was diagnosed based on clinical and cytologic characteristics. Microstomia, angular cheilitis, xerostomia, enamel hypoplasia, and microdontia were also present.
CONCLUSIONS
CHC was treated with topical nystatin and oral fluconazole, resulting in a significant improvement of the lesions.
Topics: Addison Disease; Adult; Candidiasis, Chronic Mucocutaneous; Dental Enamel Hypoplasia; Female; Humans; Hypoparathyroidism; Polyendocrinopathies, Autoimmune
PubMed: 35182449
DOI: 10.1111/scd.12703 -
Quintessence International (Berlin,... Jan 2023Epidermolysis bullosa (EB) is a rare genetic mucocutaneous disorder characterized by epithelial fragility leading to blister formation on skin and mucous membranes with...
OBJECTIVE
Epidermolysis bullosa (EB) is a rare genetic mucocutaneous disorder characterized by epithelial fragility leading to blister formation on skin and mucous membranes with even minor mechanical trauma. Most EB oral health publications give fragmented information, focusing on only one oral health aspect or one EB type. The aim of this study was to expand the knowledge of the overall oral health status of individuals with dystrophic, junctional, and simplex EB.
METHOD AND MATERIALS
A comparative multicenter study, including a control group, and based on questionnaires and clinical examinations, was undertaken in three EB expert centers.
RESULTS
Most EB (90.2%) participants brushed their teeth at least once a day despite the pain. The prevalence of enamel defects and caries experience did not differ between the 42 EB participants and the 42 age-/sex-matched healthy controls. Gingival inflammation unrelated to dental plaque accumulation was found in EB participants. Blisters, erythema, and erosion/ulceration mainly involved gingiva, buccal mucosa, lips, and palate, with different topographic patterns according to EB type. EB patients whatever the age showed a similar lesion distribution. Simplex and dystrophic EB patients under 12 years old displayed higher lesion severity than junctional EB ones. Only dystrophic type exhibited microstomia and ankyloglossia.
CONCLUSION
Oral health status seemed to benefit from a close collaboration between dental practitioner and dermatologist, and from regular dental examination, starting at a young age and with a focus on prevention. The new appreciation of oral health involvement highlighted by this study is essential for EB patients care, regarding comorbidities and quality of life.
Topics: Humans; Child; Oral Health; Quality of Life; Dentists; Professional Role; Epidermolysis Bullosa; Blister
PubMed: 36268944
DOI: 10.3290/j.qi.b3479975 -
Case Reports in Dentistry 2022Microstomia is an abnormally reduced oral aperture. In the literature, it is not classified by any particular size criteria, rather defined by its effects on function...
Microstomia is an abnormally reduced oral aperture. In the literature, it is not classified by any particular size criteria, rather defined by its effects on function and esthetics. Prosthodontic management of edentulous patients with microstomia is a challenging task. Use of conventional methods for recording an impression and fabricating prosthesis is not effective in such patients. To fabricate well-fitting prosthesis, accuracy of impression recording important anatomic landmarks is essential. Formation of an exacting custom tray and diagnostic cast is critical for final impression accuracy. Provision of a well-fitting prosthesis in microstomia patient will restore esthetics, comfort, and function with oral and systemic patient wellbeing. This paper presents a case report of managing an edentulous microstomia patient with sectional removable prosthesis. Furthermore, it proposes a novel classification system for microstomia patients according to severity of the condition.
PubMed: 35154831
DOI: 10.1155/2022/2686983 -
The Journal of Craniofacial Surgery Sep 2023The surgical requirement for cleft lip and palate repair remains unmet in many developing areas of the world, including remote regions of Ghana. This article reviews the...
INTRODUCTION
The surgical requirement for cleft lip and palate repair remains unmet in many developing areas of the world, including remote regions of Ghana. This article reviews the utilization of Internet education and online consultation for cleft lip and palate surgical training in Sunyani Regional Hospital (SRH), Ghana.
METHODS
The cleft lip and palate treatment was promoted to patients in remote areas of Sunyani, Ghana region, through a charitable outreach program. These basic designs and settings were managed by local participants such as doctors, residents, nurses, and staff in SRH, Ghana.
RESULTS
From November 2014 to December 2020, the authors collaborated in surgical treatment for 84 cases that were diagnosed with unilateral cleft lip, bilateral cleft lip, hard and soft palate cleft, and microstomia. The type of surgery has varied and has included cheiloplasty, palatoplasty, and others. The average scores of esthetic outcome evaluation were nasal form=2.4, symmetry of the nose=2.9, and vermillion border=2.9. Through the program, the surgeons and residents became significantly more proficient at cleft lip and palate surgery. The seminar topics have covered essential and sustainable topics based on SRH's current needs and showed the effectiveness in the current coronavirus disease-19 pandemic situation.
CONCLUSIONS
The shortage of orofacial cleft surgeons working in rural areas like Sunyani, Ghana, remains an obstacle that poses a challenge to any effort to improve health care quality in these rural communities. Sustainable remote education is essential for the training of local cleft surgeons to fill this local need; our collaborative and charitable program could be a recommended education design for cleft surgeons and institutes for their sustainable education.
PubMed: 37750711
DOI: 10.1097/SCS.0000000000009759 -
American Journal of Medical Genetics.... May 2020Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components...
Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, GNAI3, PCLB4, and EDN1 cause Mandibulofacial Dysostosis with Alopecia (MFDA), Auriculocondylar syndrome (ARCND) 1, 2, and 3, respectively. However, cardiovascular development is normal in MFDA and ARCND individuals, unlike Ednra knockout mice. One explanation may be that partial EDNRA signaling remains in MFDA and ARCND, as mice with reduced, but not absent, EDNRA signaling also lack a cardiovascular phenotype. Here we report an individual with craniofacial and cardiovascular malformations mimicking the Ednra mouse phenotype, including a distinctive micrognathia with microstomia and a hypoplastic aortic arch. Exome sequencing found a novel homozygous missense variant in EDNRA (c.1142A>C; p.Q381P). Bioluminescence resonance energy transfer assays revealed that this amino acid substitution in helix 8 of EDNRA prevents recruitment of G proteins to the receptor, abrogating subsequent receptor activation by its ligand, Endothelin-1. This homozygous variant is thus the first reported loss-of-function EDNRA allele, resulting in a syndrome we have named Oro-Oto-Cardiac Syndrome. Further, our results illustrate that EDNRA signaling is required for both normal human craniofacial and cardiovascular development, and that limited EDNRA signaling is likely retained in ARCND and MFDA individuals. This work illustrates a straightforward approach to identifying the functional consequence of novel genetic variants in signaling molecules associated with malformation syndromes.
Topics: Animals; Craniofacial Abnormalities; Ear; Ear Diseases; GTP-Binding Protein alpha Subunits, Gi-Go; Gene Expression Regulation, Developmental; Genetic Predisposition to Disease; Humans; Loss of Function Mutation; Mandibulofacial Dysostosis; Mice; Mice, Knockout; Morphogenesis; Neural Crest; Phenotype; Receptor, Endothelin A; Signal Transduction
PubMed: 32133772
DOI: 10.1002/ajmg.a.61531 -
Experimental and Therapeutic Medicine Jul 2020Systemic sclerosis (SSc) is a collagenosis with insufficiently known etiopathogenesis, characterized by microvasculopathy and excessive fibrosis in the context of an...
Systemic sclerosis (SSc) is a collagenosis with insufficiently known etiopathogenesis, characterized by microvasculopathy and excessive fibrosis in the context of an autoimmune disorder. The incompletely elucidated pathogenesis and limited therapeutic options, disabling aspects, skin lesions and pain determine important functional and psychological deficiencies which affect the quality of life. It is imperative to observe and correlate individual clinical and paraclinical data to optimize disease management. A group of 22 patients diagnosed with SSc, hospitalized in a university clinic in Bucharest was included in an observational study. The evolution of digital ulcers was evaluated as an indicator of vasculopathy and their status and dynamics were correlated with clinical elements reflecting the fibrotic aspect of the disease. The present study shows that the Raynaud phenomenon is almost always present during the course of the disease, but its presence is not always associated with digital ulcers. The existing data in the literature show that fibrosis is subsequent to vasculopathy, but this study did not reveal causality between these two aspects of pathogenesis. The presence of microstomia and digital contracture was identified in the presence of digital ulcers, but also in their absence. The etiopathogenic mechanisms with multiple unknown involved factors open the opportunity to investigate many aspects of SSc for optimal aiming of therapeutic interventions.
PubMed: 32508995
DOI: 10.3892/etm.2020.8572 -
The Journal of the Association of... Nov 2022Systemic sclerosis (SSc) is an autoimmune chronic multisystem disorder with a plethora of cutaneous manifestations. These manifestations often may be the only presenting...
BACKGROUND
Systemic sclerosis (SSc) is an autoimmune chronic multisystem disorder with a plethora of cutaneous manifestations. These manifestations often may be the only presenting complaint. Early identification of these help in diagnosing grievous systemic manifestations and their prompt and appropriate treatment.
AIMS
To study the clinical profile of SSc, modified Rodnan's skin scoring (mRSS), nailfold capillaroscopy (NFC) patterns, antibody profile in the western India population, and their association with cutaneous manifestations.
METHODS
Patients of SSc fulfilling the European League Against Rheumatism (EULAR) 2013 classification of SSc criteria, who attended dermatology outpatient department (OPD) between January 2017 and September 2018 were included in the study. The demographic data, cutaneous features, autoantibody profile, mRSS, and NFC pattern were noted Results: A total of 60 patients (57 females and 3 males; mean age years) of SSc were evaluated. Clinical subtypes were 40 diffuse cutaneous SSc and 20 limited cutaneous SSc. The most common presenting symptoms were Raynaud's phenomenon (RP) (95%) and skin tightening (90%). The common cutaneous findings were sclerodactyly (86.7%), stellate scars (78.3%), parrot-beaked nose (76.7%), mask-like facies (75%), microstomia (56.7%), salt and pepper pigmentation (55%), puffy finger (46.7%), telangiectasia (46.7%), digital ulcer (38.3%), fixed flexion deformity (33.3%), and calcinosis cutis (8.33%). Limited cutaneous systemic sclerosis (lcSSc) had mRSS score of 8.3 ± 4.1 and diffuse cutaneous systemic sclerosis (dcSSc) subset had a score of 28 ± 10.4. Antinuclear antibody (ANA), Anti-topoisomerase antibody (ATA), and anti-centromere antibody (ACA) were positive in 59, 49, and 7 patients, respectively. The NFC patterns were early (23.3%), active (45%), and late (18.3%).
LIMITATION
The sample size of the study was small. We were not able to determine the significance of other less common autoantibodies with scleroderma.
CONCLUSION
The study highlights the importance of identifying early cutaneous findings and the role of a useful diagnostic and prognostic reproducible scoring system (mRSS) and NFC.
Topics: Male; Female; Humans; Autoantibodies; Microscopic Angioscopy; Scleroderma, Systemic; Scleroderma, Diffuse; Antibodies, Antinuclear; Scleroderma, Localized
PubMed: 37355940
DOI: 10.5005/japi-11001-0136