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JAMA Dermatology May 2024Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1. Severe...
IMPORTANCE
Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1. Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported.
OBJECTIVE
To determine whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa.
DESIGN, SETTINGS, AND PARTICIPANTS
This longitudinal, 2-center cohort study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Germany, and the Special Care Dentistry Clinic, University of Chile in association with DEBRA Chile. Participants included a convenience sampling of all patients with a diagnosis of Kindler epidermolysis bullosa.
MAIN OUTCOMES AND MEASURES
The primary outcomes were the presence of hypoplastic pitted amelogenesis imperfecta, intraoral wounds, gingivitis and periodontal disease, gingival hyperplasia, vestibular obliteration, cheilitis, angular cheilitis, chronic lip wounds, microstomia, and oral squamous cell carcinoma.
RESULTS
The cohort consisted of 36 patients (15 female [42%] and 21 male [58%]; mean age at first examination, 23 years [range, 2 weeks to 70 years]) with Kindler epidermolysis bullosa. The follow-up ranged from 1 to 24 years. The enamel structure was assessed in 11 patients, all of whom presented with enamel structure abnormalities. The severity of hypoplastic pitted amelogenesis imperfecta varied from generalized to localized pitting. Additional orofacial features observed include gingivitis and periodontal disease, which was present in 90% (27 of 30 patients) of those assessed, followed by intraoral lesions (16 of 22 patients [73%]), angular cheilitis (24 of 33 patients [73%]), cheilitis (22 of 34 patients [65%]), gingival overgrowth (17 of 26 patients [65%]), microstomia (14 of 25 patients [56%]), and vestibular obliteration (8 of 16 patients [50%]). Other features included chronic lip ulcers (2 patients) and oral squamous cell carcinoma with lethal outcome (2 patients).
CONCLUSIONS AND RELEVANCE
These findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa and underscore the extent and severity of oral manifestations in Kindler epidermolysis bullosa and the need for early and sustained dental care.
Topics: Humans; Male; Female; Adult; Young Adult; Child, Preschool; Adolescent; Child; Epidermolysis Bullosa; Middle Aged; Longitudinal Studies; Periodontal Diseases; Carcinoma, Squamous Cell; Amelogenesis Imperfecta; Cohort Studies; Mouth Neoplasms; Gingivitis; Cheilitis; Chile
PubMed: 38506824
DOI: 10.1001/jamadermatol.2024.0065 -
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 -
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 -
Frontiers of Medicine Mar 2017Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures. In addition to affected extremities, patients may... (Review)
Review
Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures. In addition to affected extremities, patients may also present microstomia, decreased temporomandibular joint mobility. Although the etiology of AMC is unclear, any factor that decreases fetal movement is responsible for AMC. Thus, accurate diagnosis and classification are crucial to the appropriate treatment of AMC. The development of ultrasound technology has enabled prenatal diagnosis. Very early treatment is favorable, and multidisciplinary treatment is necessary to improve the function of AMC patients. Most patients require surgery to release contracture and reconstruct joints. However, perioperative care is challenging, and difficult airway is the first concern of anesthesiologists. Postoperative pulmonary complications are common and regional anesthesia is recommended for postoperative analgesia. This review on AMC is intended for anesthesiologists. Thus, we discuss the treatment and perioperative management of patients undergoing surgery, as well as the diagnosis and classification of AMC.
Topics: Anesthesia; Anesthesiology; Arthrogryposis; Humans; Perioperative Care; Ultrasonography
PubMed: 28213879
DOI: 10.1007/s11684-017-0500-4 -
Dermatologic Surgery : Official... Jun 2021Most patients with scleroderma suffer from microstomia, which can have debilitating consequences on their quality of life. Unfortunately, treatment options remain... (Review)
Review
BACKGROUND
Most patients with scleroderma suffer from microstomia, which can have debilitating consequences on their quality of life. Unfortunately, treatment options remain limited. No specific guidelines exist; hence, microstomia remains a challenge to treat in this patient population.
OBJECTIVE
This review aims to evaluate the different medical and surgical treatment modalities currently available for microstomia in patients with scleroderma and make recommendations for future research.
MATERIALS AND METHODS
A search of PubMed, Ovid MEDLINE, and Ovid Embase was conducted to identify articles discussing the treatment of microstomia in scleroderma. Twenty articles discussing surgical therapy and one article discussing medical therapy were reviewed.
RESULTS
Mostly because of a scarcity of high-level evidence, no individual therapy has documented long-term efficacy. Some treatments demonstrate positive results and warrant further research.
CONCLUSION
Given the variability of results, specific recommendations for the treatment of microstomia in patients with scleroderma are difficult to establish. A multifaceted approach that includes surgical and medical therapy is likely the best option to improve oral aperture in this patient population. Surgical treatments such as neurotoxins, autologous fat grafting, and ultraviolet A1 phototherapy may hold the most potential for improvement.
Topics: Adipose Tissue; Facial Muscles; Humans; Microstomia; Mouth; Neurotoxins; Quality of Life; Scleroderma, Systemic; Transplantation, Autologous; Treatment Outcome; Ultraviolet Therapy
PubMed: 33867466
DOI: 10.1097/DSS.0000000000002995 -
Archives of Craniofacial Surgery Jun 2020Microstomia is defined as a condition with a small sized-mouth that results in functional impairment such as difficulty with food intake, pronunciation, and poor oral...
BACKGROUND
Microstomia is defined as a condition with a small sized-mouth that results in functional impairment such as difficulty with food intake, pronunciation, and poor oral hygiene and cosmetic problems. Several treatment methods for microstomia have been proposed. None of them are universally applicable. This study aims at analyzing the cases treated at our institution critically reviewing the pertinent literature.
METHODS
The medical records of all microstomia patients treated in our hospital from November 2015 to April 2018 were reviewed retrospectively. Of these, all patients who received surgical treatment for microstomia were included in the study and analyzed for etiology, chief complaint, surgical method, and outcomes. The functional outcomes of mouth opening and intercommissure distance before and after the surgery were evaluated. The cosmetic results were assessed according to the patients' satisfaction.
RESULTS
Five patients with microstomia were corrected. Two cases were due to scar contracture after chemical burn, two cases derived from repeated excision of skin cancer, and one patient suffered sequela of Stevens-Johnson syndrome. The following surgical methods were applied: one full-thickness skin graft on the buccal mucosa, three buccal mucosal advancement flaps after triangular excision of the mouth corner, and one local buccal mucosal flap. Mouth opening was increased by 6.0 mm, and the intercommissure distance improved by 7.2 mm on average. Follow-up was 9.6 months (range, 5-14 months). Cosmetic assessment was as follows: two patients found the results excellent, three judged it as good.
CONCLUSION
Microstomia has several causes. In order to achieve optimal functional recovery and aesthetic improvement it is important to precisely evaluate the etiologic factors and the severity of the impairment and to carefully choose the appropriate surgical method.
PubMed: 32630987
DOI: 10.7181/acfs.2020.00220 -
Acta Otorhinolaryngologica Italica :... Dec 2021Reconstruction of the lower lip is complex. The Colmenero flap is an effective albeit rarely described method for the repair of medium- to large-sized defects of the... (Review)
Review
OBJECTIVE
Reconstruction of the lower lip is complex. The Colmenero flap is an effective albeit rarely described method for the repair of medium- to large-sized defects of the lower lip.
METHODS
A retrospective review was carried out using data gathered from patients who had undergone Colmenero flap reconstruction of the lower lip at our centre between 2015 and 2020. We analysed demographic, histologic and anatomic variables as well as surgical results. This review assessed flap functionality based on proper mouth closure, absence of microstomia and oral competence.
RESULTS
Thirteen Colmenero flaps were performed in 9 patients, with the flap being used bilaterally in four cases. All patients had squamous cell carcinoma of the lower lip. The mean length of the reconstructed defect was 4.1 cm (ranging between 3-7.5 cm). None of the flaps exhibited signs of necrosis. Five patients required minor surgical touch up during the second procedure: two for dehiscence, two for oral leakage and one for esthetic improvement. All patients had excellent functional and aesthetic final outcomes.
CONCLUSIONS
The Colmenero flap is a good resource for medium- and large-sized lower lip reconstructions due to its reliability, limited complications, and good aesthetic and functional results.
Topics: Humans; Lip; Reproducibility of Results; Retrospective Studies
PubMed: 34825668
DOI: 10.14639/0392-100X-N1458 -
Brain Sciences Nov 20207q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams-Beuren Syndrome...
7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams-Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioning, expressive language impairment, anxiety problems and autistic features. In the present study, we analyze the clinical features of ten individuals in which array-CGH detected dup7q11.23, spanning from 1.4 to 2.1 Mb. The clinical characteristics associated with dup7q11.23 are discussed with respect to its reciprocal deletion. Consistent with previous studies, we confirm that individuals with dup7q11.23 syndrome do not have a homogeneous clinical profile, although some recurring dysmorphic features were found, including macrocephaly, prominent forehead, elongated palpebral fissures, thin lip vermilion and microstomia. Minor congenital malformations include patent ductus arteriosus, cryptorchidism and pes planus. A common finding is hypotonia and joint laxity, resulting in mild motor delay. Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring neurobehavioral features. New insights into adaptive, psychopathological and neurodevelopmental profiles are discussed.
PubMed: 33187326
DOI: 10.3390/brainsci10110839 -
Life (Basel, Switzerland) Nov 2023Systemic sclerosis (SSc) or scleroderma is a rare, systemic, autoimmune connective tissue disease. It causes increased collagen synthesis, leading to multi-organ...
Systemic sclerosis (SSc) or scleroderma is a rare, systemic, autoimmune connective tissue disease. It causes increased collagen synthesis, leading to multi-organ sclerosis, including the skin and joints. Patients' overall health and quality of life are harmed dramatically. Involvement of the face and, especially, the oral opening can limit patients' ability to speak and eat, oral hygiene, and cosmetic appearance. Profhilo (NAHYCO) is an over-the-counter product consisting of pure hyaluronic acid. It is used to improve skin quality by increasing collagen production and adipocyte vitality. This interventional study evaluated the results of perioral injections of hyaluronic acid in terms of improved skin quality, elasticity, and increased oral opening. Patients diagnosed with SSc received an injection of one syringe of Profhilo (2 mL of hyaluronic acid) at each of two clinic visits at one-month intervals. The oral opening was measured between the upper and lower central incisors before and after treatment. Quality of life was assessed using the modified Rodnan Skin Score and Health Assessment Questionnaire-Disability Index. A total of 14 patients received the first treatment, and 11 received the second treatment. The mean oral opening increased from 31.6 mm (range 17-50 mm) prior to therapy to 35.8 mm (range 21-56) 2 months following the second injection. Statistical analysis showed that there was a significant increase in the oral opening as observed one week (36.2 mm, = 0.011), one month (36.2 mm, = 0.007), and three months (31.6 mm, = 0.023) after the second injection, at the 5-month follow-up. Treatment of SSc patients' perioral area with Profhilo can result in significant improvements in oral opening and quality of life.
PubMed: 38004316
DOI: 10.3390/life13112176 -
Journal of Dentistry (Shiraz, Iran) Mar 2015The purpose of this article was to review the biocompatibility, physical, and mechanical properties of the polyamide denture base materials. An electronic search of... (Review)
Review
The purpose of this article was to review the biocompatibility, physical, and mechanical properties of the polyamide denture base materials. An electronic search of scientific papers from 1990-2014 was carried out using PubMed, Scopus and Wiley Inter Science engines using the search terms "nylon denture base" and "polyamide denture base". Searching the key words yielded a total of 82 articles. By application of inclusion criteria, the obtained results were further reduced to 24 citations recruited in this review. Several studies have evaluated various properties of polyamide (nylon) denture base materials. According to the results of the studies, currently, thermo-injectable, high impact, flexible or semi-flexible polyamide is thought to be an alternative to the conventional acrylic resins due to its esthetic and functional characteristics and physicochemical qualities. It would be justifiable to use this material for denture fabrication in some cases such as severe soft/ hard tissue undercuts, unexplained repeated fracture of denture, in aesthetic-concerned patients, those who have allergy to other denture base materials, and in patients with microstomia. Although polyamide has some attractive advantages, they require modifications to produce consistently better properties than the current polymethyl methacrylate (PMMA) materials. Moreover, since there is a very limited knowledge about their clinical performance, strict and careful follow-up evaluation of the patients rehabilitated with polyamide prosthesis is recommended.
PubMed: 26106628
DOI: No ID Found