Enamel Renal Gingival Syndrome in an Adolescent.

Enamel renal gingival syndrome is a rare clinical condition characterized by the presence of amelogenesis imperfecta hypoplastic type, gingival fibromatosis and delayed tooth eruption, in addition to nephrocalcinosis with normal blood calcium levels. It is inherited as an autosomal recessive trait caused by mutations in the FAM20A gene located on chromosome 17q24.2. The purpose of this report is to describe a case of enamel renal gingival syndrome and discuss its distinct features and management.

Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach.

The enamel renal syndrome (ERS) is a rare disorder featured by amelogenesis imperfecta, gingival fibromatosis and nephrocalcinosis. ERS is caused by bi-allelic mutations in the secretory pathway pseudokinase FAM20A. How mutations in FAM20A may modify the gingival connective tissue homeostasis and cause fibromatosis is currently unknown. We here analyzed conditioned media of gingival fibroblasts (GFs) obtained from four unrelated ERS patients carrying distinct mutations and control subjects. Secretomic analysis identified 109 dysregulated proteins whose abundance had increased (69 proteins) or decreased (40 proteins) at least 1.5-fold compared to control GFs. Proteins over-represented were mainly involved in extracellular matrix organization, collagen fibril assembly, and biomineralization whereas those under-represented were extracellular matrix-associated proteins. More specifically, transforming growth factor-beta 2, a member of the TGFß family involved in both mineralization and fibrosis was strongly increased in samples from GFs of ERS patients and so were various known targets of the TGFß signaling pathway including Collagens, Matrix metallopeptidase 2 and Fibronectin. For the over-expressed proteins quantitative RT-PCR analysis showed increased transcript levels, suggesting increased synthesis and this was further confirmed at the tissue level. Additional immunohistochemical and western blot analyses showed activation and nuclear localization of the classical TGFß effector phospho-Smad3 in both ERS gingival tissue and ERS GFs. Exposure of the mutant cells to TGFB1 further upregulated the expression of TGFß targets suggesting that this pathway could be a central player in the pathogenesis of the ERS gingival fibromatosis. In conclusion our data strongly suggest that TGFß -induced modifications of the extracellular matrix contribute to the pathogenesis of ERS. To our knowledge this is the first proteomic-based analysis of FAM20A-associated modifications.

Non-syndromic hereditary gingival fibromatosis.

Hereditary gingival fibromatosis is a rare condition characterised by severe gingival hyperplasia that can occur as an isolated disease or as part of a syndrome or chromosomal abnormality. In severe cases, the gingival enlargement may cover the crowns of teeth and cause severe aesthetic, emotional and functional impairment. This case report gives an overview of gingival fibromatosis in a 22-year-old male patient who presented with generalised gingival enlargement.

Immunoexpression of α2-integrin and Hsp47 in hereditary gingival fibromatosis and gingival fibromatosis-associated dental abnormalities.

OBJECTIVE: The purpose of the present study was to investigate the expression of the α2-integrin subunit and heat shock protein 47 (Hsp47) in two families with isolated gingival fibromatosis (GF) form and one family with GF associated with dental abnormalities and normal gingival (NG). STUDY DESIGN: Immunohistochemistry was performed with antibodies against α2-integrin and Hsp47 in specimens from two unrelated families with hereditary gingival fibromatosis (Families 1 and 2) and from one family with a gingival fibromatosis-associated dental abnormality (Family 3); NG samples were used for comparison. The results were analysed statistically. RESULTS: Immunoreactivity for α2-integrin and Hsp47 was observed in the nucleus of epithelial cells of both the basal and suprabasal layer and a more discreet signal was noted in connective tissue in all study samples. Hsp47 showed higher immunoreactivity in Family 2 compared with the other families (p ≤ 0.05). Despite the markup α2-integrin was higher in Family 3 there was no statistically significant difference between the families studied (p ≥ 0.05). CONCLUSIONS: Our results confirmed the heterogeneity of GF, such that similar patterns of expression of the condition may show differences in the expression of proteins such as Hsp47. Although no difference in α2-integrin expression was observed between GF and NG groups, future studies are necessary to determine the exact role of this protein in the various forms of GF and whether it contributes to GF pathogenesis.

Gingival fibromatosis with hemi-osseous hyperplasia of jaws, focal maxillary viral papillomatosis of gingiva, fissured tongue and congenitally missing anterior teeth: a case report and surgical management of a new syndrome.

Gingival fibromatosis is characterized by fibrotic enlargement of the gingiva that can occur as inherited or sporadic form. Inherited form can be an isolated trait or as a component of a syndrome. This article reports a 35 year old male patient affected by gingival fibromatosis associated with hemiosseous hyperplasia of mandible, maxilla, and zygoma on the right side, viral papillomatosis of maxillary anterior gingiva, fissured tongue and congenitally missing anterior teeth. The patient was subjected to phase I and phase II periodontal therapy. There was no evidence of recurrence of the enlargement after one year but the papillomatosis recurred. Gingival fibromatosis has been reported to be associated with various other abnormalities but not with those described in our case. This observation raises the possibility that the coexistence of these entities in our case may represent a new syndrome.

A rare case of gingival fibromatosis associated with hypertrichosis and a dysmorphic face.

Several forms of hypertrichosis have been described with and without gingival hyperplasia; some of them are recognized as genetic disorder and associated with syndromes. In all reported cases the most striking differences from other are the craniofacial features. We present a case of a 6-year-old boy with hypertrichosis associated with gingival hyperplasia and a characteristic, coarse face and we consider this case to be a distinctive entity.

Uso de obturadores en cirugía oral y maxilofacial. Presentación de cinco casos clínicos / Use of obturators in oral and maxillofacial surgery. A report of five cases

Los defectos creados en el maxilar, principalmente tras cirugía resectiva de tumores malignos, traumatismo o defectos congénitos, deben ser corregidos con el fin de recuperar los consecuentes déficits en el habla, la deglución, la masticación y la estética. Para ello contamos con dos amplias posibilidades: reconstrucción quirúrgica o colocación de un obturador protésico maxilar. En este artículo llevamos a cabo una revisión de la literatura reciente y clásica sobre obturadores palatinos, ilustrándola mediante 5 casos clínicos con esta opción terapéutica. Hemos encontrado descritas una amplia variedad de modificaciones para los distintos tipos de obturadores, como la fabricación de aletas nasales, colocación de obturadores de forma inmediata tras la cirugía, el hecho de ahuecar el aditamento obturador, etc. En nuestra práctica hemos observado una serie de ventajas en la colocación de este tipo de prótesis de forma posquirúrgica diferida y en estrecha colaboración con su médico responsable(AU)

Defects created in the maxillary bone, principally after surgical resection of malignant tumors, trauma or congenital defects, must be corrected to eliminate the resulting speech, swallowing, and chewing defects and restore the cosmetic appearance. Two major options available are surgical reconstruction or the placement of a maxillary obturator prosthesis. The recent and classic literature on palatal obturators is reviewed and five clinical cases treated with a palatal obturator are reported. A large variety of modifications have been reported for different types of obturators, such as nasal wings, immediate postoperative obturator prosthesis placement, etc. In the authors' experience, deferred postoperative obturator placement in close collaboration with the responsible doctor has advantages(AU)

Improved pathologic teeth migration following gingivectomy in a case of idiopathic gingival fibromatosis.

A case is reported of a 20-year-old woman with generalized severe gingival overgrowth covering almost all of the teeth with diastemata, diagnosed as idiopathic gingival fibromatosis. After initial therapy, the patient underwent surgery consisting of a full-mouth internal beveled gingivectomy. Postoperatively, the maxillary anterior teeth spontaneously moved to almost optimal positions. Removing the cause by gingivectomy can lead to spontaneous correction of the pathologic tooth migration. With supportive periodontal treatment, the patient showed no recurrence of gingival enlargement or repositioning of the teeth at the 5-year follow-up.

Caso para diagnóstico / Case for diagnosis

Fibromatose hialina juvenil e hialinose sistêmica infantil são desordens autossômicas recessivas, raras da infância. À histologia, há depósito de material hialino na derme e subcutâneo. As características clínicas principais são: lesões pápulo-nodulares, hipertrofia gengival, contratura articular, lesões ósseas osteolíticas e retardo no crescimento. Mutações no mesmo gene foram identificadas nas duas condições, sugerindo que sejam espectros da mesma doença.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autossomal recessive disorders with onset in infancy or early childhood. Histological examination shows deposit of hyaline material in the dermis and subcutaneous tissue. Clinical features include papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Mutations in the same gene were detected in both conditions, suggesting that they may be variants of the same disorder.

Tratamiento de la hiperplasia gingival en una escuela odontológica de Brasil: conceptos generales, diagnóstico y tratamiento / Treatment of gingival hyperplasia in a dental school of Brazil: general concept, diagnosis and treatment

La hiperplasia gingival es una condición patológica benigna en la que aumenta de volumen de tejido gingival de forma lenta y gradual, causando importantes molestias estéticas y funcionales en los pacientes. Se clasifica como idiopática, inflamatoria, hereditaria y asociada a drogas, según su etiología, donde cada una tiene sus peculiaridades que deben ser bien comprendidas por el cirujano-dentista, a fin de lograr el tratamiento adecuado para cada caso. Este artículo revisa la literatura reciente sobre la hiperplasia gingival, abordando su etiología y tratamiento, presentando un caso clínico de fibromatosis gingival hereditaria y su tratamiento quirúrgico.

The gingival hyperplasia is a condition in which increase in volume in benign, slow and gradual development of the gingival tissue, causing significant discomfort and aesthetic function in patients. It is classified as idiopathic, inflammatory, and hereditary drug, according to its etiology, and that each variant has its peculiarities that must be well understood by the Clinical-Dentist, in order to achieve the appropriate treatment for each case. This paper reviews the recent literature on gingival hyperplasia, addressing its etiology and treatment given, and clinical case report of hereditary gingival fibromatosis in the surgical therapy was performed successfully.

Idiopathic gingival fibromatosis associated with generalized aggressive periodontitis: a case report.

Idiopathic gingival fibromatosis, a benign, slow-growing proliferation of the gingival tissues, is genetically heterogeneous. This condition is usually part of a syndrome or, rarely, an isolated disorder. Aggressive periodontitis, another genetically transmitted disorder of the periodontium, typically results in severe, rapid destruction of the toothsupporting apparatus. The increased susceptibility of the host population with aggressive periodontitis may be caused by the combined effects of multiple genes and their interaction with various environmental factors. Functional abnormalities of neutrophils have also been implicated in the etiopathogenesis of aggressive periodontitis. We present a rare case of a nonsyndromic idiopathic gingival fibromatosis associated with generalized aggressive periodontitis. We established the patient"s diagnosis through clinical and radiologic assessment, histopathologic findings and immunologic analysis of neutrophil function with a nitro-blue-tetrazolium reduction test. We describe an interdisciplinary approach to the treatment of the patient.

Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery.

The Central Institute for Stomatology and Maxillo-facial Surgery in Moscow is one the main centers for the treatment of pediatric head and neck tumors in the territory of the former Soviet Union. A series of 33 patients presenting with cherubism (24 children and 9 of their parents) is presented. The authors discuss the atypical clinical presentations, the relevant associated anomalies and the different treatment strategies. They report the first case of cherubism associated with gingival hypertrophy without neurological signs.

[Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Case for diagnosis]. / Caso para diagnóstico.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autosomal recessive disorders with onset in infancy or early childhood. Histological examination shows deposit of hyaline material in the dermis and subcutaneous tissue. Clinical features include papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Mutations in the same gene were detected in both conditions, suggesting that they may be variants of the same disorder.

Long-term uncontrolled hereditary gingival fibromatosis: a case report.

Hereditary gingival fibromatosis (HGF) is a rare condition characterized by varying degrees of gingival hyperplasia. Gingival fibromatosis usually occurs as an isolated disorder or can be associated with a variety of other syndromes. A 33-year-old male patient who had a generalized severe gingival overgrowth covering two thirds of almost all maxillary and mandibular teeth is reported. A mucoperiosteal flap was performed using interdental and crevicular incisions to remove excess gingival tissues and an internal bevel incision to reflect flaps. The patient was treated 15 years ago in the same clinical facility using the same treatment strategy. There was no recurrence one year following the most recent surgery.

Zimmermann-Laband syndrome: further clinical delineation.

Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, hypertrichosis and sometimes mental retardation. We describe two unrelated patients, a girl aged 9 years and a boy 11 months whose clinical and radiological findings permit us to diagnose the ZLS. Body overgrowth, present in both patients, was identified as a main clinical feature not previously reported as well as the presence in neuroimaging studies of a cavernous hemangioma on the frontal and the left cerebellar regions in the boy. The girl also presented important radiological characteristics such as broad medulary canals and metaphyses of long bones, thin cortices, broad ribs, accelerated skeletal maturation as well as high intelligence level. A wide clinical spectrum in ZLS is also considered.

Gingival fibromatosis and significant tooth eruption delay in an 11-year-old male: a 30-month follow-up.

This case report describes the dental management of an unusual case of idiopathic gingival fibromatosis with multiple impacted primary teeth, and the absence of eruption of permanent teeth, in an 11-year-old boy and at the 30-month follow-up. The patient presented with severely enlarged gingival tissues affecting both arches and multiple retained and non-erupted primary teeth. He had already been subjected to localized gingivectomies at the ages of 7 and 9 years. He had no known syndrome and there was no family history of any similar disorder. The patient was treated under general anaesthesia to remove the excessive gingival tissues using apically positioned flaps. During the surgical procedure, over-retained and unerupted impacted primary teeth were extracted in order to facilitate the eruption of the permanent successors. Two years postoperatively, there was no recurrence of the gingival enlargement. Overdentures were then constructed because none of the permanent teeth had yet erupted. Furthermore, pre-eruptive coronal resorption was detected radiographically affecting the crown of the unerupted 36. Thirty months postoperatively, no recurrence of gingival enlargement was seen, but the permanent teeth had still not erupted.

[Gingival fibromatosis associated with cherubism]. / La fibromatose gingivale associée au chérubisme.

INTRODUCTION: Gingival fibromatosis is frequently an isolated condition, but rarely associated with certain illnesses, or uncommon syndromes. CASE: This work describes a young patient presenting cherubism, with perturbed consciousness and very hyperplastic gingiva covering the major part of the dental crowns. DISCUSSION: We recall the characteristic clinical features of cherubism. Outcome is generally favorable with regression of the swelling. The combination with gingival fibromatosis is a particular manifestation.