Dental Enamel Pits Research Articles

Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review

BackgroundTuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC.Case presentationA 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, “confetti” skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery.ConclusionsWe report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC.

Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama.

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disease characterized by cutaneous and extracutaneous hamartomas. The diagnosis is based on the association of major and minor criteria, defined by a consensus conference updated in 2012. The clinical examination of the skin is crucial because seven diagnostic criteria are dermatological: four major (hypomelanotic macules, angiofibroma or fibrous cephalic plaques, ungual fibromas, shagreen patches) and three minor criteria (confetti skin lesions, dental enamel pits, intraoral fibromas). Skin biopsy is commonly performed to assert the diagnosis of TSC when the clinical aspect is atypical. Histopathology of TSC cutaneous lesions have been poorly reported until now. In this article, we review the histologic features described in the literature and share our experience of TSC skin biopsies in our pediatric hospital specialized in genetic disorders. Both hypomelanotic lesions and cutaneous hamartomas (angiofibroma/fibrous cephalic plaques, ungual fibromas, shagreen patches) are discussed, including the recent entity called folliculocystic and collagen hamartoma, with a special emphasis on helpful clues for TSC in such lesions.

Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China

To identify the TSC1 and TSC2 mutations in patients with tuberous sclerosis complex (TSC) associated with renal lesions, and to explore the relationship between genotypes and phenotypes. We analyzed 43 individuals affected with TSC accompanied by renal lesions using next-generation sequencing (NGS). We also performed Sanger sequencing to validate the NGS results. We reported a comprehensive mutation analysis of 43 affected individuals with TSC accompanied by renal lesions using NGS. Forty-one of 43 patients (95%) had at least 1 detectable mutation in the TSC1 or TSC2 gene. We identified 14 novel nucleotide alterations, including 11 novel small mutations and 3 large-deletion mutations for the first time. Our study showed that patients with TSC2 mutations had higher frequency of hypomelanotic macules and dental enamel pits and larger angiomyolipomas (AMLs) than patient populations with non-TSC2 mutations through analysis of the correlated mutation findings with clinical features. In conclusion, patients with TSC2 mutations had higher frequency of hypomelanotic macules and dental enamel pits, along with larger renal AMLs, compared with patient populations with non-TSC2 mutations. Patients with large deletions and frameshift mutations of the TSC1 or TSC2 gene showed larger AML diameters than patients with other kinds of mutations.

Genotype and phenotype correlation in patients of tuberous sclerosis complex-associated renal angiomyolipomas

Objective To study the correlation of genotype and phenotype in patients of tuberous sclerosis complex-associated renal angiomyolipomas (TSC-RAML). Methods The clinical and gene mutation data from 39 patients with TSC-RAML diagnosed in Peking Union Medical College Hospital were collected from January 2014 to December 2015. The clinical phenotype and genotype correlation associated with TSC-RAML was analyzed. A total of 39 patients (15 male, 24 female) were enrolled, with mean age of 28.4 years (range, 13~48). Results Five cases showed TSC1 gene mutation, thirty-two patients presented with TSC2 gene mutation and two cases didn't find any mutations. The mutations ratio of TSC1: TSC2 was 1: 6.4. Comparing to those with TSC1 gene mutation and no mutation identified, patients with TSC2 gene mutation had significantly higher frequency with hypomelanotic macules and dental enamel pits. The maximum diameter and clinical stage of patients with TSC2 gene mutation was significantly larger than patients with non-TSC2 gene mutations, along with higher frequency of AML bleeding risk and accepted invasive treatment. Conclusions The patients with TSC2 gene mutations presented higher frequency with hypomelanotic macules and dental enamel pits than those with non-TSC2 gene mutations. Comparing to those with TSC1 gene mutation and no mutation identified, the frequency of AML bleeding risk and loss of renal function was higher in patients with TSC2 gene mutations. Therefore, more active surveillance and treatment should be given to the patients of TSC-RAML with TSC2 gene mutations. Key words: Tuberous sclerosis complex; Genotype; Phenotype; Angiomyolipoma

Gingival Overgrowth Leading to the Diagnosis of Familial Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC), a neurocutaneous syndrome, is characterized by the development of benign tumours affecting different body systems. We herein present a report of a 40-year-old female patient presenting with dental enamel pits and localized gingival overgrowth that eventually lead to the diagnosis of a case of familial TSC. Diagnosis of familial TSC by comprehensive oral examination and detection of oral manifestations proved to be inevitable as it resulted in institution of appropriate treatment strategies and genetic counselling of the affected family.

Diagnosis of tuberous sclerosis complex

Tuberous sclerosis complex is a autosomal dominant instantly progressing disease, causing the development of benign tumors in all organs and tissues of human body. According to International Consensus Conference (2012), definite or possible TSC diagnosis can be made. For the definite diagnosis of TSC, two major criteria or one major criterion and ≥2 minor criteria have to be present. For a possible diagnosis, 1 major criterion or ≥2 minor criteria should be found. A pathogenic mutation in the TSC1 or TSC2 gene is by itself sufficient for a definite diagnosis. There are following major diagnostic criteria: angiofibromas (≥3) or forehead plaque; hypomelanotic macules (≥3); ungual fibromas (≥2); chagrin patch; multiple retinal hamartomas; cortical dysplasias (≥3, include tubers and cerebral white matter radial migration lines; subependymal nodules; subependymal giant cell astrocytoma; cardiac rhabdomyoma; lymphagioleiomatosis and renal angiomyolipomas (≥2). The minor criteria are the following ones: dental enamel pits (≥3); intraoral fibromas (≥2); non-renal hamartomas; retinal achromatic patch; confetti skin lesions; multiple renal cysts. Diagnosis of TSC is not difficult if a physician is familiar with clinical presentation of the disease.

Oral findings in a family with Tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a multisystemic character that may present alterations in multiple organ systems, including oral manifestations. This case report describes a family (mother and two sons) with TSC that underwent a multidisciplinary approach, emphasizing their oral manifestations and highlights the adequate approach taken. The children presented many and distinct features of TSC in different systems; however the family revealed similar oral manifestations. The oral findings were dental enamel pits on permanent teeth and spread gingival fibromas on both jaws. The dental planning was the same for all three patients and included guidelines on oral hygiene and dietary habits, fluoride therapy and a preventive approach through six-month reevaluations. In multisystemic disorders, early multidisciplinary action is vital to provide comprehensive care and reduce or even prevent complications from the condition, thus ensuring the patient's quality of life.

TS or not TS?

A 47-year-old woman had first presented in her late twenties with complex partial seizures and became seizure-free on carbamazepine. She re-presented 13 years later with migrainous headaches. MR scan of...

Oral and neurocutaneous phenotypes of familial tuberous sclerosis

The objective of this study was to describe the pattern of inheritance and the clinical features in a large family with tuberous sclerosis (TS), and to focus on the general diagnosis after the initial oral examination. To characterize the pattern of inheritance and the clinical features, 61 familial members were systematically evaluated, including dermatologic, ophthalmologic, and orofacial examination. Imaging exams, such as abdomen ultrasonography, echocardiogram, fundoscopy, cranial cone-beam computerized tomography, and brain magnetic resonance, were performed. Hematoxylin and eosin stain and scanning electronic microscopy were performed to characterize TS-associated alterations in the teeth, nails, and hair. The pedigree of the family was constructed including the 4 last generations and revealed nonconsanguineous marriages and an autosomal dominant mode of TS transmission. We identified 13 family members affected by TS, with 6 of them completely fulfilling the diagnostic criteria of this disorder. Hypomelanotic macules in the skin, facial angiofibromas, and dental enamel pits were the most common features of affected patients. Central nervous system alterations were identified in 5 family members, whereas cardiac and renal alterations were found in 1 member each. We emphasize, in this study, the importance of oral findings such as dental enamel pits and gingival angiofibromas in the early diagnosis of familial TS which led to complete familial profile and pattern of inheritance establishment.

Oral manifestations leading to the diagnosis of familial tuberous sclerosis

Clinical manifestations of tuberous sclerosis (TS) are variable, and oral involvement occurs in less than 10% of the affected patients. We reported herein a nine-year-old boy with dental enamel pits and gingival nodular lesions, histologically diagnosed as angiofibromas that leaded to the diagnosis of a family with TS. In this report, we demonstrated the multiprofessional importance in the diagnosis of TS. Early diagnosis of TS is essential for an appropriate treatment of the affected patients and genetic counseling.

Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?

Ten probands with tuberous sclerosis (TS) and 20 first degree relatives were examined for evidence of pitted enamel hypoplasia; 100% of TS patients had pitting, compared to 65% of relatives...