Imaging evalution of the gingival fibromatosis and dental abnormalities syndrome

Neto, PE dos Santos; Santos, Lan Dos; Coletta, Ricardo D.; Laranjeira, AL; Santos, CC de Oliveira; Bonan, PR; Martelli‐Júnior, Hercílio

doi:10.1259/dmfr/20901517

Cited by 2 publications

(3 citation statements)

References 23 publications

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“…Collectively, the various forms of AI are common, with prevalence rates varying from 1/700 to 1/14,000 in newborns, depending on the population studied [ 24 , 25 ]. A review of the clinical cases in the literature indicates that AI associated with the key features of ERS/AIGFS has been reported but named differently: only AI [ 26 , 27 ], AI with inter-radicular dentine dysplasia [ 28 ], AI with gingival fibromatosis [ 20 , 22 , 29 , 30 ], AI with odontogenic fibroma-like hamartomas around non-erupted teeth [ 31 - 35 ], AI with crown resorption [ 36 ] and AI with unerupted teeth [ 37 ]. To date, 34 articles have reported ERS-like cases (Table 1 and Additional file 1 ).…”

Section: Epidemiologymentioning

confidence: 99%

“…In addition, an abnormal eruption pathway is noted and is extremely clear for the second permanent molar with an inverted direction toward the mandibular canal or maxillary sinus. In some cases, thickening of the maxillary or nasal sinus is observed [ 29 ]. Hyperplasia of dental follicles appears to be associated with the abnormality of the eruption pathway and the absence of eruption (Figure 1 I, Figure 3 C).…”

Section: Clinical Descriptionmentioning

confidence: 99%

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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Molla

Quentric

Yamaguti

et al. 2014

Orphanet J Rare Dis

110

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Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). Patients affected by ERS/AIGFS present a distinctive orodental phenotype consisting of generalized hypoplastic AI affecting both the primary and permanent dentition, delayed tooth eruption, pulp stones, hyperplastic dental follicles, and gingival hyperplasia with variable severity and calcified nodules. Renal exam reveals a nephrocalcinosis which is asymptomatic in children affected by ERS. FAM20A recessive mutations are responsible for both syndromes. We suggest that AIGFS and ERS are in fact descriptions of the same syndrome, but that the kidney phenotype has not always been investigated fully in AIGFS. The aim of this review is to highlight the distinctive and specific orodental features of patients with recessive mutations in FAM20A. We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations. A differential diagnosis has to be made with other forms of AI, isolated or syndromic, where only a subset of the clinical signs may be shared. When ERS is suspected, the patient should be assessed by a dentist, nephrologist and clinical geneticist. Confirmed cases require long-term follow-up. Management of the orodental aspects can be extremely challenging and requires the input of multi-disciplinary specialized dental team, especially when there are multiple unerupted teeth.

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Section: Epidemiologymentioning

confidence: 99%

Section: Clinical Descriptionmentioning

confidence: 99%

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Molla

Quentric

Yamaguti

et al. 2014

Orphanet J Rare Dis

110

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“…HGF is traditionally considered an autosomal dominant disease ( 10 ). Few reports have described that HGF may be inherited by an autosomal recessive gene ( 4 , 6 , 11 ).…”

Section: Discussionmentioning

confidence: 99%

Hereditary gingival fibromatosis: Clinical and ultrastructural features of a new family

Pêgo

Coletta²,

Mendes³

et al. 2015

Med Oral

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Objective: This article describes the diagnosis, clinical and microscopic (histopathology and ultrastructural) features and treatment of a new family with hereditary gingival fibromatosis (HGF) and highlights the importance of this genetic condition. Study Design: To characterize the pattern of inheritance and the clinical features, members of a new family with HGF were examined. The pedigree was reliably constructed including the four latest generations of family. Hematoxylin and eosin staining and ultrastructural analysis were performed with the gingival tissue. Results: Examination of the family pedigree revealed that the patient III-2 represent the index patient of this family (initial patient with a mutation), which was transmitted to her daughter through an autosomal dominant mode of inheritance. The affected patients showed a generalized gingival overgrowth. The patient was treated with surgical procedures of gingivectomy and gingivoplasty. The diagnosis was confirmed by histopathology examination that showed a well-structured epithelium with elongated and thin papillae inserted in fibrous connective tissue with increased amount of collagen. The ultrastructural aspects of the tissue show collagen fibrils exhibiting their typically repeating banding pattern with some fibrils displaying loops at their end. Moreover, it was possible to seen in some regions fibrillar component presenting tortuous aspects and loss of the alignment among them. Conclusions: This HGF frequently resulted in both esthetic and functional problems. The genetic pattern of this Brazilian family suggested a new mutation, which was later transmitted by an autosomal dominant trait. Key words:Gingival fibromatosis, genetic disease, pedigree, ultrastructure.

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Imaging evalution of the gingival fibromatosis and dental abnormalities syndrome

Cited by 2 publications

References 23 publications

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Hereditary gingival fibromatosis: Clinical and ultrastructural features of a new family

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