-
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 -
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 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 -
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 -
Medical Research Archives Oct 2023Systemic sclerosis (SSc) is a rare autoimmune disorder with pathological manifestations affecting multiple organ systems. Few studies have examined perioperative...
BACKGROUND
Systemic sclerosis (SSc) is a rare autoimmune disorder with pathological manifestations affecting multiple organ systems. Few studies have examined perioperative outcomes in patients with this disorder. The primary aim of this retrospective single-center comparative cohort analysis was to estimate the incidence of select perioperative complications in a population of SSc patients. In an exploratory analysis, we analyzed the relationship between SSc and susceptibility to select perioperative complications when treated at a large quaternary-care institution.
METHODS
We conducted a single-center retrospective, comparative cohort study to compare perioperative outcomes in a SSc (n=258) and a frequency matched control cohort (n=632). We analyzed for the presence of major composite infection (MCI), major adverse cardiac events (MACE), 30-day readmission, 30-day mortality, in-hospital complications, length of stay and airway management outcomes.
RESULTS
MCI was higher in the SSc compared to the control cohort [adjusted odds ratio (ORadj)=5.02 (95%CI: 2.47-10.20) p<0.001]. Surgical site infection (3.5% vs. 0%, p<0.001), and other infection types (5% vs. 0%, p<0.001) were higher in the SSc cohort. MACE was not significantly different between SSc vs. Control groups [6.2% vs. 7.9%, ORadj=1.33 (95%CI: 0.61-2.91) p=0.48]. Higher rates of limited cervical range of motion (13.6% vs. 3.5%, p<0.001), microstomia (11.5% vs. 1.3%, p<0.001) and preoperative difficult airway designation (8.7% vs. 0.5%, p<0.001) were observed in the SSc cohort. Bag mask ventilation grade was similar between groups (p=0.44). After adjustment, there was no between-group difference in Cormack-Lehane grade 3 and 4 view on direct laryngoscopy in SSc patients [ORadj = 1.86 (95%CI: 0.612 -5.66) p=0.18] but evidence of higher rates of video laryngoscopy [ORadj= 1.87 (95%CI:1.07 - 3.27) p=0.03]. Length of stay [median: 0.2 vs. 0.3 days, p=0.08], 30-day mortality [1.2% vs. 0.6%, ORadj=2.79 (95%CI: 0.50-15.6) p=0.24] and readmission [11.5% vs. 8.1%, ORadj=1.64 (95%CI: 0.96 - 2.82) p=0.07] were not statistically significant.
CONCLUSIONS
SSc patients demonstrate mostly similar rates of MACE, 30-day mortality, length of stay intraoperative and airway complications. There is evidence of increased risk of overall 30-day MCI risk and readmission after endoscopic procedures.
PubMed: 38037571
DOI: 10.18103/mra.v11i10.4606 -
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 -
Clinical Case Reports Jul 2023Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies,...
Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low-set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.
PubMed: 37448946
DOI: 10.1002/ccr3.7678 -
BMC Oral Health Feb 2024Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral...
BACKGROUND
Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral and extraoral findings in MS patients and their comprehensive dental management.
METHODS
A digital search was carried out in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar, restricted to articles in English from Jan 01, 2000, to Apr 02, 2023, following PRISMA guidelines. The methodological quality of the studies was evaluated following the JBI guidelines. Qualitative analysis was carried out on the overall result, extraoral and intraoral manifestations, considering dental management as appropriate.
RESULTS
Twenty-three studies were included, and a total of 124 cases of patients with MS were analyzed. The 82% of patients with MS were younger than 15 years of age. The most frequent extraoral manifestations were blinking and visual problems (78,22%), malformations of the upper and lower limbs (58,22%), bilateral facial paralysis (12,90%), lack of facial expression (12.09%), and unilateral facial paralysis (6,45%). On the other hand, the most frequent oral manifestations were tongue deformities (78,22%), micrognathia (37,90%), labial incompetence (36,29%), cleft palate (22,87%), gothic palate (16,12%), microstomia (15,32%), anterior open bite (15,32%), dental caries (8,87%), and periodontal disease (8,06%). The majority of MS patients were treated by pediatric dentistry (60,86%), using a surgical approach (56,52%), and orthodontic and orthopedic maxillary (43,47%) followed by restorative (39,13%), and periodontal treatments (21,73%).
CONCLUSIONS
This systematic review demonstrates that patients with MS present a wide variety of oral and extraoral manifestations, for which dental treatments are planned and tailored to each patient in accordance with oral manifestations. These treatments encompass problem resolution and oral health maintenance, incorporating recent techniques in managing and treating patients with MS.
Topics: Child; Humans; Mobius Syndrome; Facial Paralysis; Dental Caries; Cleft Palate; Dental Care
PubMed: 38321523
DOI: 10.1186/s12903-024-03968-6 -
Diagnostics (Basel, Switzerland) Feb 2024oral alterations in Systemic Sclerosis (SSc) patients are widespread and include microstomia, periodontitis, telangiectasias, mandibular resorption, bone lesions, and...
BACKGROUND AND OBJECTIVES
oral alterations in Systemic Sclerosis (SSc) patients are widespread and include microstomia, periodontitis, telangiectasias, mandibular resorption, bone lesions, and xerostomia. This cross-sectional study aims to evaluate the differences between SSc patients (cases) and healthy subjects (controls) regarding oral manifestations, quality of life (QoL), and microcirculation alterations.
METHODS
plaque index (PCR), periodontal index (PSR), DMFT, salivary flow rate, and buccal opening were measured by expert clinicians. S-HAQ test, the Self-Rating Anxiety State (SAS), the Self-Rating Depression Scale (SDS), and the WHOQOL-BREF test were administered to patients to evaluate their QoL. Microvascular alterations were assessed by oral videocapillaroscopy, performed on gingival and labial mucosa. A statistical analysis was conducted to find significant differences between healthy people and SSc patients.
RESULTS
59 patients were enrolled in this study. Standard salivary flow is significantly more frequent in controls, while xerostomia, reduced flow, microstomia, lip retraction, and periodontitis are significantly more frequent in the cases. Gingival capillaroscopy showed differences concerning loop visibility, thickening of the gum, tortuosity of gingival loops, and reduced gingival density. Labial capillaroscopy demonstrates that visibility of the labial loops, the labial ectasias, and the tortuosity of the loops are significantly associated with the presence of scleroderma. Hand and facial deformities, hypomobility of the tongue, cheeks, lips, microstomia, and xerostomia significantly compromised the quality of life of SSc patients, which was significantly worse among them. Moreover, oral videocapillaroscopy could be a proper diagnostic method to detect oral microcirculation alterations. SSc patients often present ectasias, rarefaction of the reticulum, microhemorrhages, and megacapillaries, which negatively impact their oral health.
CONCLUSIONS
periodontitis, reduced salivary flow, and microstomia could be considered SSc oral manifestations. Joint deformities, facial appearance, and comorbidities significantly reduce the QoL of SSc patients compared to healthy subjects. Oral videocapillaroscopy could be an innovative and reliable technique to detect oral microcirculation anomalies.
PubMed: 38396477
DOI: 10.3390/diagnostics14040437 -
Journal of the American Academy of... Nov 2023Reduced oral aperture (ROA), resulting from systemic sclerosis (SSc), is a debilitating condition with limited treatment options. Improvement in oral function has been...
BACKGROUND
Reduced oral aperture (ROA), resulting from systemic sclerosis (SSc), is a debilitating condition with limited treatment options. Improvement in oral function has been reported with perioral administration of botulinum toxin type A.
OBJECTIVE
To prospectively evaluate the efficacy of onabotulinumtoxinA (onabotA) injection in improving oral opening and quality of life in SSc patients with ROA.
METHODS
Seventeen women with SSc and ROA were treated with 16 units of onabotA in 8 different sites around the cutaneous lips. Measurements of maximum mouth opening were taken before treatment, at 2 weeks posttreatment, and at 3 months posttreatment. Function and quality of life were also assessed via surveys.
RESULTS
Interincisor and interlabial distances were significantly increased 2 weeks after treatment with onabotA (P < .001) but not 3 months after. Subjective improvement in quality of life was noted.
LIMITATIONS
This single-institution study enrolled 17 patients and did not have a placebo control group.
CONCLUSION
OnabotA appears to have a strong short-term symptomatic benefit in patients with ROA due to SSc, with possible benefit to quality of life.
PubMed: 37301288
DOI: 10.1016/j.jaad.2023.04.069