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Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia.

ABSTRACT: BACKGROUND:Abnormalities of some facial bones derived from the ectomesenchyme have been found in ectodermal dysplasia (ED) patients, but the characteristics of the zygoma are unknown. PURPOSE:Comparison between ED patients and normal individuals to understand the anatomical features of the zygoma in ED patients. MATERIALS AND METHODS:Thirty patients diagnosed with ED based on clinical features and/or gene sequence tests and 80 normal individuals were recruited from 2016 to 2018. The thickness of the zygomatic body at 12 points on the superior, middle, and inferior areas and the length of four lines were measured on a three-dimensional cone beam computed tomography image. Differences between ED patients and normal individuals were then compared. RESULTS:The zygomatic thicknesses and lengths were smaller in ED patients than in normal individuals. For ED patients, the largest thicknesses on the superior, middle, and inferior areas of the zygoma were 8.47?±?1.49, 7.03?±?1.56, and 5.99?±?1.22?mm. CONCLUSION:The development of zygomatic thickness on the inferior area and the zygomatic length were insufficient in ED patients with oligodontia. Consequently, zygomatic hypoplasia presented difficulties for the "quad approach" to zygomatic implants in this group of patients.

SUBMITTER: Wang H

PROVIDER: S-EPMC6593974 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia.

Wang Haowei H Hung Kuofeng K Zhao Kai K Wang Yueping Y Wang Feng F Wu Yiqun Y

Clinical implant dentistry and related research 20190221 2

<h4>Background</h4>Abnormalities of some facial bones derived from the ectomesenchyme have been found in ectodermal dysplasia (ED) patients, but the characteristics of the zygoma are unknown.<h4>Purpose</h4>Comparison between ED patients and normal individuals to understand the anatomical features of the zygoma in ED patients.<h4>Materials and methods</h4>Thirty patients diagnosed with ED based on clinical features and/or gene sequence tests and 80 normal individuals were recruited from 2016 to ...[more]

PMID: 30793468

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Project description:IntroductionAn analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated.Materials and methodsExtensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring in a database of 3621 facial cleft deformity patients. The data was analyzed using the Microsoft Excel program.ResultsA total of 10 (0.28%) cases of p63 associated syndromes were recorded: EEC (6), RHS (3), and AEC (1). The following clinical cleft appearances were noted - EEC = 6: CLA 1 -right side unilateral (female); CLAP 4 - right side (1) + left side (1) unilateral (male + female); bilateral (2) (males); hPsP 1 (female) (divided in 3 Black, 2 White, 1 Indian); RHS = 3: CLAP 2 (White males); hPsP 1 (White female); AEC = 1: CLAP bilateral (White male). Other features of the syndromes were: skin, hand, foot, tooth, hair and nail involvement, and light sensitivity. Postoperative complications included: (i) stenosis of nasal opening, especially after reconstruction of the bilateral cleft lip and the columella lengthening (2 cases), (ii) premaxilla-prolabium fusion (2 cases), (iii) repeated occurrence of oro-nasal fistula in the hard palate (4 cases), and (iv) dysgnathial development of midfacial structures (3 cases).DiscussionThree different p63 associated syndromes (EEC, AEC, and RHS) were diagnosed (0.27% of the total facial cleft deformities database). The majority of the cases presented with a bilateral CLAP in males only. A number of females and males had unilateral CLA. The hPsP-cleft was recorded in females only. The associated ectodermal component most probably had a profoundly negative influence on postoperatively wound healing, which was observed in particular at the nasal openings, the premaxilla sulcus and in the hard palate mucosa. The reconstruction of p63 associated syndromes is a greater challenge than the usual cleft reconstruction to the surgeon.

Project description:ObjectiveTo detect the ectodysplasin A (EDA) gene mutation in patients with hypohidro-tic ectodermal dysplasia (HED), and to analyze the distribution pattern of missing permanent teeth and the systemic manifestation of HED patients with EDA gene mutation.MethodsTwelve HED families were enrolled from clinic for genetic history collection, systemic physical examination and oral examination. Peripheral blood or saliva samples were collected from the probands and the family members to extract genomic DNA. PCR amplification and Sanger sequencing were utilized to detect the EDA gene variations, which were compared with the normal sequence (NM_001399.5). The functional impact of EDA gene variants was then evaluated by functional prediction of mutation, conservation analysis and protein structure prediction. The pathogenicity of each EDA gene variation was assessed according to the stan-dards and guidelines of the American College of Medical Genetics and Genomics (ACMG). The systemic phenotype and missing permanent tooth sites of HED patients with EDA gene mutations were summarized, and the missing rate of each tooth position was analyzed and compared.ResultsEight out of twelve HED families were identified to carry EDA gene mutations, including: c.164T>C(p.Leu55Pro); c.457C>T (p.Arg153Cys); c.466C>T(p.Arg156Cys); c. 584G>A(p.Gly195Glu); c.619delG(p.Gly207Profs*73); c.673C>T(p.Pro225Ser); c.676C>T(p.Gln226*) and c.905T>G(p.Phe302Cys). Among them, c.164T>C(p.Leu55Pro); c.619delG(p.Gly207Profs*73); c.673C>T(p.Pro225Ser); c.676C>T(p.Gln226*) and c.905T>G(p.Phe302Cys) were novel mutations. The HED patients with EDA gene mutations in this study were all male. Our results showed that the average number of missing permanent teeth was 13.86±4.49, the average number of missing permanent teeth in the upper jaw was 13.14±5.76, the missing rate was 73.02%. And in the lower jaw, the average number of missing permanent teeth was 14.57±3.05, the missing rate was 80.95%. There was no significant difference in the number of missing teeth between the left and right sides of the permanent dentition (P>0.05). Specifi-cally, the maxillary lateral incisors, the maxillary second premolars and the mandibular lateral incisors were more likely to be missing, while the maxillary central incisors, the maxillary and mandibular first molars had higher possibility of persistence.ConclusionThis study detected novel EDA gene pathogenic variants and summarized the distribution pattern of missing permanent teeth of HED patients, thus enriched the variation and phenotype spectrum of EDA gene, and provided new clinical evidence for genetic diagnosis and prenatal consultation.

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Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia.

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Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia.

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