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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 -
Autopsy & Case Reports 2020
PubMed: 32185147
DOI: 10.4322/acr.2020.152 -
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 -
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 -
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 -
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 -
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 -
Medicina (Kaunas, Lithuania) Jun 2023Epidermolysis bullosa (EB) is a genetically inherited disease characterized by recurrent bullae and erosions on the skin with numerous signs of dental caries and poor...
Epidermolysis bullosa (EB) is a genetically inherited disease characterized by recurrent bullae and erosions on the skin with numerous signs of dental caries and poor oral hygiene. The aim of this study was to investigate the general clinical and oral findings of patients with EB. In this prospective study, the clinical and oral findings and family history of 26 cases with EB were evaluated. The type of EB, gender, age, parental consanguinity, dental caries, oral findings, distribution of lesions and presence of associated anomalies, clinical and oral findings correlated with gender were recorded. All 26 patients with EB had a history of consanguinity and siblings with EB to varying degrees. In our study, malnutrition, anemia and growth retardation, gastrointestinal system complications, hair thinning, hand and nail deformity, ocular problems and renal disease (in one case) were observed with variable frequencies. When the intraoral findings of the patients were investigated, extensive dental caries in all EB types, enamel hypoplasia in junctional EB (JEB) and the presence of tooth-root to be extracted in dystrophic EB (DEB), intraoral bullae and lesions, ankyloglossia, vestibular sulcus insufficiency, microstomia and maxillary atrophy were observed. Three cases had restorative treatment and one case had prosthetic rehabilitation. Oral involvement can be seen with varying frequencies depending on the type of EB and the severity of the disease. It may result from delayed oral and dental rehabilitation due to physical disabilities, limitations and more pressing medical problems. Microstomy, pain from mucosal lesions, and restricted access to the mouth can be caused by poor oral hygiene. Oral complications and caloric needs of individuals with EB should be determined, and individual prophylaxis should be applied to prevent caries formation and protect teeth.
Topics: Humans; Blister; Prospective Studies; Dental Caries; Epidermolysis Bullosa; Mouth
PubMed: 37511997
DOI: 10.3390/medicina59071185 -
BioMed Research International 2022Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal... (Review)
Review
Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal junction. There are four major classical heritable EB types, due to mutations in as many as 20 distinct genes: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB). This study is aimed at reporting case series on patients ( = 8; males, = 5 and females, = 3, age range 12-68 years) affected by EB and performs a review of the literature on this topic. This group of disorders can affect oral soft and hard tissues in various ways, resulting in various effects including enamel hypoplasia, dental caries, microstomia, ankyloglossia, oral blistering, and ulcerations early-onset periodontal disease. From the sample results, it can be concluded that the clinical manifestation of EB patients is highly variable and very different in prognosis. Oral health deeply influences the quality of life of EB patients. Dental management is essential to prevent the aggravation of soft tissue damage and tooth loss and to improve the quality of life through prosthetic and restorative therapies. Dentists should consider the oral alterations of EB subtypes to perform a personalized approach to the patients' needs in a preventive and therapeutic point of view.
Topics: Adolescent; Adult; Aged; Child; Dental Caries; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Female; Humans; Male; Middle Aged; Quality of Life; Young Adult
PubMed: 35686231
DOI: 10.1155/2022/6493156