Orofacial Anomalies in Kindler Epidermolysis Bullosa.

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.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-ß binding protein 3 (LTBP3) gene have been found implicated in the pathogenesis of this disorder. So far, biallelic pathogenic LTBP3 variants have been identified in less than 10 families. We here report a young boy born from consanguineous parents with a complex phenotype including skeletal dysplasia associated with aortic stenosis, hypertrophic cardiomyopathy, hypodontia and amelogenesis imperfecta caused by a previously unreported homozygous LTBP3 splice site variant. We also compare the genotypes and phenotypes of patients reported to date. This work provides further evidence that brachyolmia with amelogenesis imperfecta is a distinct nosologic entity and that variations in LTBP3 are involved in its pathogenesis.

Interdisciplinary treatment for a patient with open-bite malocclusion and amelogenesis imperfecta.

Amelogenesis imperfecta (AI) comprises a clinically and genetically heterogeneous group of conditions that affect the dental enamel, occasionally in conjunction with other dental, oral, and extraoral tissues. The aim of this case report is to describe an interdisciplinary treatment of hypoplastic AI associated with a severe open bite. The treatment consisted of surgical, orthodontic, periodontal, prosthetic and restorative management, establishing good chewing function, dental esthetics and facial harmony.

Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report.

Amelogenesis imperfecta (AI) is a hereditary disorder expressing a group of conditions that cause developmental alterations in the structure of enamel. AI is a serious problem that reduces oral health-related quality of life and causes some physiological problems. The treatment of patients with AI may upgrade the quality of life and reinforce their self-esteem. Among the treatment options for AI, full-mouth metal reinforced porcelain restoration constitutes an important alternative because of its properties. This paper presents a case of AI of the hypoplastic rough type associated with a group of dental anomalies, and describes the prosthetic management of the patient. A 26-year-old female patient presented with a chief complaint of discolored teeth. Clinical and radiographic examination of the patient confirmed the diagnosis of rough pattern hypoplastic AI. The patient was treated with full-mouth metal reinforced porcelain fixed bridge. The adaptation of the temporomandibular joints and masticatory muscles was carefully observed periodically during 4 months and, after this period, the patient tolerated well her new vertical dimension. The patient received instructions on cleansing of the subpontic and interproximal areas. Follow-up visits were scheduled at 3 months and then at 6 months. No esthetic or functional problems were seen after the follow up period.

Amelogenesis Imperfecta, hypoplastic type associated with some dental abnormalities: a case report

Amelogenesis imperfecta (AI) is a hereditary disorder expressing a group of conditions that cause developmental alterations in the structure of enamel. AI is a serious problem that reduces oral health-related quality of life and causes some physiological problems. The treatment of patients with AI may upgrade the quality of life and reinforce their self-esteem. Among the treatment options for AI, full-mouth metal reinforced porcelain restoration constitutes an important alternative because of its properties. This paper presents a case of AI of the hypoplastic rough type associated with a group of dental anomalies, and describes the prosthetic management of the patient. A 26-year-old female patient presented with a chief complaint of discolored teeth. Clinical and radiographic examination of the patient confirmed the diagnosis of rough pattern hypoplastic AI. The patient was treated with full-mouth metal reinforced porcelain fixed bridge. The adaptation of the temporomandibular joints and masticatory muscles was carefully observed periodically during 4 months and, after this period, the patient tolerated well her new vertical dimension. The patient received instructions on cleansing of the subpontic and interproximal areas. Follow-up visits were scheduled at 3 months and then at 6 months. No esthetic or functional problems were seen after the follow up period.

Amelogenesis imperfecta (AI) é uma desordem hereditária que expressa um grupo de condições que causam alterações de desenvolvimento na estrutura do esmalte. A AI é um problema grave que compromete a qualidade de vida relacionada à saúde bucal e causa alguns problemas psicológicos. O tratamento de pacientes com AI pode melhorar sua qualidade de vida e reforçar sua auto-estima. Dentre as opções de tratamento para AI, a restauração de toda a boca com porcelana reforçada com metal representa uma alternativa importante devido a suas propriedades. Este artigo apresenta um caso de AI do tipo hipoplásica rugosa associada a um grupo de anomalias dentais, e descreve o tratamento protético da paciente. Uma paciente de 26 anos apresentou-se com queixa principal de dentes manchados. O exame clínico e radiográfico da paciente confirmou o diagnóstico de AI hipoplásica rugosa. A paciente foi tratada com a construção de próteses fixas de porcelana reforçada com metal em toda a boca. A adaptação das articulações temporomandibulares e dos músculos mastigatórios foi cuidadosamente observada periodicamente durante 4 meses e, após este período, a paciente mostrou tolerar bem sua nova dimensão vertical. A paciente recebeu instruções sobre limpeza das áreas sob o pôntico e áreas interproximais. As visitas de acompanhamento foram agendadas a cada 3 meses e subseqüentemente a cada 6 meses. Não foram observados problemas estéticos ou funcionais após o período de acompanhamento.

Overdenture as a restorative option for hypocalcified-hypoplastic amelogenesis imperfecta: a case report.

AIM: The aim of this report is to describe the restorative treatment of an 18-year-old patient diagnosed with autosomal recessive hypocalcified-hypoplastic amelogenesis imperfecta (AI). BACKGROUND: Esthetic and functional rehabilitations in AI cases are challenging and should consider individual aspects, such as age, socioeconomic status, AI type, and intraoral condition. REPORT: AI was diagnosed in an 18-year-old patient. SUMMARY: Considering the short length of crowns and roots, patient life expectancy, minimal invasiveness, amount of treatment time required, and lower costs, oral rehabilitation with overdentures provided an adequate functional and esthetic rehabilitation of the patient. CLINICAL SIGNIFICANCE: This report demonstrated overdentures to be a viable, relatively inexpensive, and non-invasive treatment choice of a patient with AI with concerns about treatment longevity, invasiveness, cost, esthetics, and long-term maintenance.

Amelogenesis imperfecta, rough hypoplastic type, dental follicular hamartomas and gingival hyperplasia: report of a case from Central America and review of the literature.

We report on a black male patient from Central America with amelogenesis imperfecta, rough hypoplastic type, dental follicular hamartomas, and gingival hyperplasia. Although previous reports have described this association of amelogenesis imperfecta with hyperplastic follicular hamartomas or central odontogenic fibroma-like lesions in blacks from South Africa, we have noticed non-black patients in the literature with similar findings.

Amelogenesis imperfecta and unusual gingival hyperplasia.

BACKGROUND: Amelogenesis imperfecta (AI) is a group of hereditary conditions that primarily involves the defective formation and/or calcification of enamel. The association of AI with gingival enlargement-like lesions has also been reported. METHODS: This paper reports a case of a hypoplastic AI associated with unusual generalized gingival hyperplasia. RESULTS: Histological aspect of the gingival growth was characterized by a dense connective tissue with a mild mononuclear inflammatory infiltrate, calcified bodies, and islands of odontogenic epithelium. CONCLUSION: The present case represents a very interesting demonstration of the fact that, although rare, AI may be associated with generalized gingival enlargement.

Hypomaturation amelogenesis imperfecta: account of a family with an X-linked inheritance pattern.

Amelogenesis imperfecta (AI) is a heterogeneous genetic disorder which affects the dental enamel. It can have an autosomal dominant, autosomal recessive or X-linked pattern. The authors describe a case of a family with hypomaturation X-linked AI and discuss the clinical and histopathological aspects of this disorder.

Hallazgos radiograficos e histologicos en pacientes odontologicos con terapia anticonvulsivante: informe de un caso / Radiographic and histologic findings in odontologic patients with anticonvulsivant therapy: report of a case

Enzimas hidroliticas como hexosaminasas, B-glucoronidasas, galactosidasas presentes en encias inflamadas e hiperplasicas producen alteraciones en el metabolismo celular, alterando el desarrollo adecuado de las raices dentarias, asi como alteraciones en le crecimiento gingival. Se estudia paciente masculino con 17 anos de edad, con cuadro clinico de retardo mental y crisis convulsivas, toma difenil hidantoina 100 mg. 3 dosis diarias, clinicamente el agrandamiento gingival no es el tipico en esta clase de patologia, se diagnostica amelogenesis imperfecta, radiograficamente se observan atipias morfologicas en las raices e histologicamente hay actividad proliferativa tipo hiperplasico en las papilas del conjutivo, vacuolizacion intracitoplasmatica e infiltrado inflamatorio. La severidad del cuadro clinico no esta asociada ni a la dosis ni al timepo de ingesta, es asi que la droga produce una interaccion entre droga-huesped y antigenos de la placa bacteriana. La alta cantidad de hidroxiprolina en el fluido gingival demuestra una actividad fibroblastica como la degradacion del colageno y el desarrollo dentario se vera afectado como se observa clinica y radiograficamente en este caso. Se necesitan estudios bioquimicos-bacteriologicos en pacientes que estan siendo sometidos a farmacoterapia con difenil hidantoina.