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13 pages, 984 KiB

Open AccessArticle

Oral Health-Related Quality of Life in Different Subtypes of Ehlers-Danlos Syndrome

by Julius Balke, Lauren Bohner, Jeanette Köppe, Jochen Jackowski, Ole Oelerich and Marcel Hanisch

Int. J. Environ. Res. Public Health 2023, 20(3), 2218; https://doi.org/10.3390/ijerph20032218 - 26 Jan 2023

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Abstract

This study assessed differences in the oral health-related quality of life (OHRQoL) between subtypes of Ehlers-Danlos syndrome (EDS). For statistical analysis, participants were divided according to their subtype: classical EDS (cEDS), hypermobile EDS (hEDS), and vascular EDS (vEDS). All other subtypes were descriptively [...] Read more.

This study assessed differences in the oral health-related quality of life (OHRQoL) between subtypes of Ehlers-Danlos syndrome (EDS). For statistical analysis, participants were divided according to their subtype: classical EDS (cEDS), hypermobile EDS (hEDS), and vascular EDS (vEDS). All other subtypes were descriptively analyzed. Free-text questions and the German short form of the Oral Health Impact Profile (OHIP-14) were used. Finally, 295 questionnaires were included, representing 10 different EDS subtypes. The mean OHIP score of all participants was 19.6 points (standard derivation (SD) ± 12.3). The most predominant subtypes showed similar reduced OHRQoL, with 18.0 (cEDS, ±12.9), 19.5 (hEDS, ±12.0), and 15.2 (vEDS, ±11.6) OHIP points. For all other subtypes, the OHIP values varied. Participants waited an average of 21.8 years (±12.8) for their diagnosis. However, within the predominant subtypes, vEDS patients waited a noticeably shorter period of 13.3 years (±13.0; p = 0.004) compared to participants with hEDS. Additionally, this study showed no difference in OHRQoL for the predominant subtypes regardless of whether a participant was a self-help group member (18.8, ±12.0) or not (19.4, ±12.1; p = 0.327). Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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11 pages, 637 KiB

Open AccessArticle

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians

by Patrizia Defabianis, Alessandro Mussa, Rossella Ninivaggi, Diana Carli and Federica Romano

Int. J. Environ. Res. Public Health 2022, 19(4), 2448; https://doi.org/10.3390/ijerph19042448 - 20 Feb 2022

Cited by 8 | Viewed by 1748

Abstract

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15. Cardinal features include abdominal wall defects, macroglossia, and cancer predisposition. Several (epi)genotype–phenotype associations were described so far, but specific studies on the [...] Read more.

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15. Cardinal features include abdominal wall defects, macroglossia, and cancer predisposition. Several (epi)genotype–phenotype associations were described so far, but specific studies on the evolution over time of maxillo-facial phenotype in the molecular subtypes still are scanty. The aim of this cross-sectional study was to associate maxillo-facial morphology and growth pattern with genoype in 25 Caucasian children with BWS and macroglossia. Twelve patients experienced a loss of metilation at imprinting center 2 (IC2-LoM), five had mosaic paternal uniparental isodisomy of chromosome 11 (UPD(11)pat), and eight were negative. A more marked tongue enlargement was detected in patients with IC2-LoM and negative genotype, while UPD(11)pat children showed mild macroglossia (p = 0.048). A cluster analysis did not demonstrate any specific relationship between (epi)genotype and maxillo-facial phenotype, but separated BWS patients based on their cephalometric characteristics. Children with IC2-LoM or negative genotype displayed hyperdivergence values > 30°, clockwise growth tendency, and skeletal class II into the same cluster. They had a negative prognostic score. These preliminary data suggest the need for developing individualized protocols for early monitoring of the craniofacial growth in such patients. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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10 pages, 317 KiB

Open AccessArticle

Torus Mandibularis in Patients Receiving Hemodialysis

by Pei-Ching Chang, Shao-Yu Tai, Chia-Lin Hsu, Aileen I. Tsai, Jen-Fen Fu, I-Kuan Wang, Cheng-Hao Weng and Tzung-Hai Yen

Int. J. Environ. Res. Public Health 2021, 18(18), 9451; https://doi.org/10.3390/ijerph18189451 - 07 Sep 2021

Cited by 2 | Viewed by 2067

Abstract

Reports on the prevalence of torus mandibularis among dialysis patients have been limited and inconclusive. A wide variety of oral manifestations has been found in patients with hyperparathyroidism. Furthermore, uremia-related changes in facial bone structures have been described in the literature. This prospective [...] Read more.

Reports on the prevalence of torus mandibularis among dialysis patients have been limited and inconclusive. A wide variety of oral manifestations has been found in patients with hyperparathyroidism. Furthermore, uremia-related changes in facial bone structures have been described in the literature. This prospective observational study examined 322 hemodialysis patients treated at the Chang Gung Memorial Hospital from 1 August to 31 December 2016. Two subgroups were identified: patients with torus mandibularis (n = 25) and those without (n = 297). Clinical oral examinations including inspection and palpation were employed. Our study found that most mandibular tori were symmetric (84.0%), nodular (96.0%), less than 2 cm in size (96.0%), and located in the premolar area (92.0%). Poor oral hygiene was observed among these patients, with 49.7% and 24.5% scoring 3 and 4, respectively, on the Quigley-Hein plaque index. More than half (55.0%) of patients lost their first molars. Multivariate logistic regression analysis revealed that blood phosphate level (odds ratio = 1.494, p = 0.029) and younger age (odds ratio = 0.954, p = 0.009) correlated significantly with torus mandibularis. The prevalence of torus mandibularis in patients receiving hemodialysis in this study was 7.8%. Younger age and a higher blood phosphate level were predictors for torus mandibularis in these patients. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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12 pages, 1695 KiB

Open AccessSystematic Review

Oral Manifestations of Systemic Lupus Erythematosus: A Systematic Review

by Paula García-Ríos, María Pilar Pecci-Lloret and Ricardo Elías Oñate-Sánchez

Int. J. Environ. Res. Public Health 2022, 19(19), 11910; https://doi.org/10.3390/ijerph191911910 - 21 Sep 2022

Cited by 9 | Viewed by 4749

Abstract

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by clinical heterogeneity and irregularities in its course. The etiology and pathogenesis of this pathology are not well-understood, so there is difficulty in establishing a diagnosis and treatment plan with certainty. [...] Read more.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by clinical heterogeneity and irregularities in its course. The etiology and pathogenesis of this pathology are not well-understood, so there is difficulty in establishing a diagnosis and treatment plan with certainty. The aim of this systematic review is to present a qualitative synthesis of studies referring to the oral manifestations of systemic lupus erythematosus (SLE). This systematic review was performed following the PRISMA guideline. On this basis, a search for articles was performed in the PubMed, Web of Science, and Scopus databases on 19 November 2021 and updated on 15 February 2022. We chose articles published between 2012 and 2022 that analyzed the oral manifestations of SLE patients. The quality of all these studies was analyzed following the STROBE scale. A total of 15 articles were included in this study after selection. The selected articles were cross-sectional, case–control, and cohort studies. The most frequently associated oral manifestations with SLE were oral ulcers, hyposalivation, pigmentations, glossodynia, cleft tongue, cheilitis, arthritis, and secondary Sjögren’s syndrome. However, despite the importance of the perception of these oral manifestations in the early diagnosis of SLE, there are still not enough studies about them. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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6 pages, 467 KiB

Open AccessCase Report

Live Intraoral Dirofilaria repens of Lower Lip Mimicking Mucocele—First Reported Case from Croatia

by Ivana Skrinjar, Vlaho Brailo, Bozana Loncar Brzak, Jelena Lozic Erent, Suzana Bukovski and Danica Vidovic Juras

Int. J. Environ. Res. Public Health 2022, 19(7), 4330; https://doi.org/10.3390/ijerph19074330 - 04 Apr 2022

Cited by 3 | Viewed by 1689

Abstract

Dirofilariasis is an endemic infestation in tropical and subtropical countries caused by about 40 different species. It rarely occurs in the oral cavity and is mostly presented as mucosal and submucosal nodules. Differential diagnoses include lipoma, mucocele, and pleomorphic adenoma. We report a [...] Read more.

Dirofilariasis is an endemic infestation in tropical and subtropical countries caused by about 40 different species. It rarely occurs in the oral cavity and is mostly presented as mucosal and submucosal nodules. Differential diagnoses include lipoma, mucocele, and pleomorphic adenoma. We report a rare case of oral dirofilariasis mimicking mucocele in a 41-year-old male patient from Croatia without an epidemiological history of travelling outside the country. He came in because of non-painful lower lip swelling that had lasted for two months. The parasite was surgically removed from the lesion. This is the first reported case of oral dirofilariasis in Croatia. It is important to point out this rare diagnosis in order to make dentists aware of the possibility of the presence of such an infestation in common lesions of the oral mucosa. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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10 pages, 4559 KiB

Open AccessCase Report

Isolated Hypoglossal Nerve Palsy as an Early Symptom of a Granular Cell Tumor

by Juliana Lemound, Dimitrios Papadimas, Sabine Skodda, Andrea Tannapfel, Anriy Alekseyev and Martin Kunkel

Int. J. Environ. Res. Public Health 2022, 19(5), 2690; https://doi.org/10.3390/ijerph19052690 - 25 Feb 2022

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Abstract

Background: Hypoglossal nerve palsy (HNP) is rather common as a neurological disease. However, as an isolated nerve palsy it is an exceedingly rare phenomenon and points at local pathologies along the peripheral course of the nerve. In this communication we report a granular [...] Read more.

Background: Hypoglossal nerve palsy (HNP) is rather common as a neurological disease. However, as an isolated nerve palsy it is an exceedingly rare phenomenon and points at local pathologies along the peripheral course of the nerve. In this communication we report a granular cell tumor (GCT) arising in the submandibular segment of the hypoglossal nerve. Case-Report: Spontaneous isolated HNP was recognized in a female patient. First line MR-imaging identified a clivus-chordoma. However, involvement of the hypoglossal nerve was highly unlikely according to MR-findings. Finally, ultrasonographic investigation revealed a small submandibular mass which, at histological examination, turned out to be a granular cell tumor arising within the hypoglossal nerve. Conclusions: This is the report of an extremely rare GCT originating within the 12th cranial nerve. The case illustrates that isolated motoric cranial nerve palsy may result from this rare tumor entity. This report also points out the diagnostic value of a simple ultrasonographic investigation to depict pathologic lesions of the submandibular space. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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15 pages, 741 KiB

Open AccessSystematic Review

Dental Implants in People with Osteogenesis Imperfecta: A Systematic Review

by Ole Oelerich, Johannes Kleinheinz, Lauren Bohner, Vera Wiesmüller and Marcel Hanisch

Int. J. Environ. Res. Public Health 2022, 19(3), 1563; https://doi.org/10.3390/ijerph19031563 - 29 Jan 2022

Cited by 2 | Viewed by 3152

Abstract

The aim of this systematic review was to answer the question of whether patients with osteogenesis imperfecta can be prosthetically rehabilitated with dental implants. A protocol was prospectively registered in PROSPERO (CRD42021286368). The inclusion criteria were the presence of osteogenesis imperfecta and the [...] Read more.

The aim of this systematic review was to answer the question of whether patients with osteogenesis imperfecta can be prosthetically rehabilitated with dental implants. A protocol was prospectively registered in PROSPERO (CRD42021286368). The inclusion criteria were the presence of osteogenesis imperfecta and the use of implants for prosthetic restorations. Cases in which the inclusion criteria were not met were excluded. PubMed, Web of Science, and Scopus were last searched on 22 August 2021. Quality assessment was performed using the Methodological Quality and Synthesis of Case Series and Case Reports tool. The primary outcome was implant survival. Supporting data were analyzed descriptively. Twelve studies were included. Twenty-three patients received a total number of 116 implants, with 5.0 (±3.8) implants placed per patient. The implant survival rate was 94.0% with a mean follow-up of 59.1 months (±36.1). A limitation of this review was the relatively short follow-up time in some of the included studies; therefore, the survival rate may be overestimated. Nevertheless, the available data showed the loss of only seven implants, with two implants lost due to implant fractures not attributable to the patient. With the limitations of this review and based on the available data, dental implants have a high survival rate in patients with osteogenesis imperfecta. Therefore, dental implants may be a viable treatment option for replacing missing teeth. This research was not funded by external resources. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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9 pages, 3940 KiB

Open AccessCase Report

Digital Implant Planning in Patients with Ectodermal Dysplasia: Clinical Report

by Lauren Bohner, Shankeeth Vinayahalingam, Johannes Kleinheinz and Marcel Hanisch

Int. J. Environ. Res. Public Health 2022, 19(3), 1489; https://doi.org/10.3390/ijerph19031489 - 28 Jan 2022

Cited by 1 | Viewed by 2857

Abstract

Ectodermal dysplasia may severely affect the development of jaw growth and facial appearance. This case report describes the treatment of two patients suffering from ectodermal dysplasia, both treated with dental implant-fixed restorations by means of computer-guided surgery. Two patients presented to our clinic [...] Read more.

Ectodermal dysplasia may severely affect the development of jaw growth and facial appearance. This case report describes the treatment of two patients suffering from ectodermal dysplasia, both treated with dental implant-fixed restorations by means of computer-guided surgery. Two patients presented to our clinic with congenital malformation of the jaw as a manifestation of ectodermal dysplasia, showing oligodontia and alveolar ridge deficit. Clinical examination revealed multiple unattached teeth and a need for prosthetic therapy. For both cases, dental implants were placed based on a computer-guided planning. A surgical guide was used to determine the positioning of the dental implants according to the prosthetic planning, which allowed for a satisfactory aesthetic and functional outcome. Computer-guided implant placement allowed predictable treatment of complex cases with satisfactory aesthetic and functional results. Adequate surgical and prosthetic planning is considered critical for treatment success. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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11 pages, 2247 KiB

Open AccessCase Report

A Long-Term Follow-Up of Dental and Craniofacial Disturbances after Cancer Therapy in a Pediatric Rhabdomyosarcoma Patient: Case Report

by Pei-Ching Chang and Shiao-Yu Lin

Int. J. Environ. Res. Public Health 2021, 18(22), 12158; https://doi.org/10.3390/ijerph182212158 - 19 Nov 2021

Cited by 2 | Viewed by 2562

Abstract

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents. A boy aged seven years and five months was diagnosed with stage three group III embryonal parameningeal RMS with intracranial extension. He received chemotherapy for 23 weeks in combination with [...] Read more.

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents. A boy aged seven years and five months was diagnosed with stage three group III embryonal parameningeal RMS with intracranial extension. He received chemotherapy for 23 weeks in combination with localized radiotherapy during the inductive phase of nine weeks (a total tumor dose of 5040 cGy). Three months later, he was referred to the department of pediatric dentistry for radiation-induced caries, the treatment of which was later terminated because of severe trismus and radiation-induced oropharyngeal mucositis. Three years later, the patient returned for the fitting of a prosthesis because of mastication problems. The dental treatments performed included: extraction, banding, composite resin restorations, root canal fillings, and stainless steel crown fabrication. An interim denture was fitted due to the poor retention of the fixed prosthesis. As the patient grew older, they developed facial asymmetry as a result of the prominent atrophy of their right cheek. By the age of 32, they had lost multiple teeth and exhibited severe facial deformity. Therefore, it is essential not only to involve a multidisciplinary medical team before, during, and after cancer therapy, but also to initiate long-term follow-ups given the potential effects of late sequelae after chemoradiation in multiple developmental areas. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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11 pages, 29386 KiB

Open AccessCase Report

Mandibular Brown Tumor as a Result of Secondary Hyperparathyroidism: A Case Report with 5 Years Follow-Up and Review of the Literature

by Veronika Shavlokhova, Benjamin Goeppert, Matthias M. Gaida, Babak Saravi, Frederic Weichel, Andreas Vollmer, Michael Vollmer, Christian Freudlsperger, Christian Mertens and Jürgen Hoffmann

Int. J. Environ. Res. Public Health 2021, 18(14), 7370; https://doi.org/10.3390/ijerph18147370 - 09 Jul 2021

Cited by 6 | Viewed by 5489

Abstract

Background: Brown tumor is a rare skeletal manifestation of secondary hyperparathyroidism. Although diagnosis of the disease is increasingly seen in early stages due to improved screening techniques, some patients still present in a progressed disease stage. The treatment depends on tumor mass and [...] Read more.

Background: Brown tumor is a rare skeletal manifestation of secondary hyperparathyroidism. Although diagnosis of the disease is increasingly seen in early stages due to improved screening techniques, some patients still present in a progressed disease stage. The treatment depends on tumor mass and varies from a conservative approach with supportive parathyroidectomy to extensive surgical resection with subsequent reconstruction. Case presentation: We report a case of extensive mandibular brown tumor in a patient with a history of systemic lupus erythematosus, chronic kidney disease, and secondary hyperparathyroidism. Following radical resection of the affected bone, reconstruction could be successfully performed using a free flap. Conclusions: There were no signs of recurrence during five years of close follow-up. Increased awareness and multidisciplinary follow-ups could allow early diagnosis and prevent the need for radical therapeutical approaches. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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9 pages, 3786 KiB

Open AccessCase Report

Management of Amelogenesis Imperfecta in Childhood: Two Case Reports

by Mirja Möhn, Julia Camilla Bulski, Norbert Krämer, Alexander Rahman and Nelly Schulz-Weidner

Int. J. Environ. Res. Public Health 2021, 18(13), 7204; https://doi.org/10.3390/ijerph18137204 - 05 Jul 2021

Cited by 6 | Viewed by 8247

Abstract

Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel [...] Read more.

Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel crowns in the posterior region is recommended for deciduous dentition, the challenges when treating such structural defects in mixed or permanent dentition are changing teeth and growing jaw, allowing only temporary restoration. The purpose of this case report is to demonstrate oral rehabilitation from mixed to permanent dentition. The dentition of a 7-year-old patient with AI type I and a 12-year-old patient with AI type II was restored under general anesthesia to improve their poor aesthetics and increase vertical dimension, which are related to problems with self-confidence and reduced oral health quality of life. These two cases show the complexity of dental care for structural anomalies of genetic origin and the challenges in rehabilitating the different phases of dentition. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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7 pages, 5507 KiB

Open AccessCase Report

Implant-Prosthetic Restoration of a Patient with Osteogenesis Imperfecta: A Case Report

by Marcel Hanisch, Melanie Maus and Johannes Kleinheinz

Int. J. Environ. Res. Public Health 2021, 18(8), 4169; https://doi.org/10.3390/ijerph18084169 - 15 Apr 2021

Cited by 3 | Viewed by 2131

Abstract

Osteogenesis imperfecta describes a group of genetic disorders that result from a defect in collagen type I and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Osteogenesis imperfecta is mostly caused by mutations in the [...] Read more.

Osteogenesis imperfecta describes a group of genetic disorders that result from a defect in collagen type I and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Osteogenesis imperfecta is mostly caused by mutations in the COL1A1 (17q21.33) and COL1A2 (7q21.3) genes. There have only been a few case reports of implant-prosthetic treatment for patients with osteogenesis imperfecta. These reports indicated that implants and augmentation procedures can be implemented in such patients. However, for patients receiving additional antiresorptive therapy, cautious approaches should be chosen and the risk of drug-associated osteonecrosis should be considered. The aim of this article is to report on the implant-prosthetic treatment of a patient with type I osteogenesis imperfecta. Full article

(This article belongs to the Special Issue Oral Diseases with Orofacial Manifestations)

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