Prosthetic rehabilitation of a hypohidrotic ectodermal dysplasia patient: A case report

Aim: Ectodermal dysplasia is a rare hereditary disease that arises from a developmental disorder of 2 or more ectoderm-derived tissues. Ectodermal dysplasia is seen in 3 different types: anhidrotic, hypohidrotic, and hidrotic. Its anhidrotic and hypohidrotic types are the most common. This study presents the intraoral findings and dental treatment approach of a case diagnosed with hidrotic ectodermal dysplasia that demonstrates the typical characteristics of the disease, such as anodontia, hypohydrosis (reduced sweating), hypotrichosis (sparse hair), and loss of vertical dimension. Methodology: A 5-year-old male patient presented to the clinic of the Prosthetic Dental Treatment Department of the School of Dentistry at Dicle University on 25.10.2020 with complaint of missing teeth. A genetic analysis conducted in 2016 showed that he was a homozygous carrier of the p.Cys148Arg (c.442 T>C) mutation on the 5th exon of the ectodysplasin-A receptor (EDAR) gene. The mutation detected in the patient was associated with ectodermal dysplasia. An extraoral clinical examination revealed sparse hair, eyebrows, and eyelashes; soft, smooth, and dry skin; thin, linear wrinkles around the eyes and the lips; drooping, thickened lips; a sunken nose; fractured nails; hyperthermia due to lack of sweat glands; hyperkeratosis in the skin and soles of the feet; 2 nipples on one side of the chest; and reduced vertical facial height. An intraoral examination revealed anodontia; there were no teeth on the maxilla or the mandible and no radiographically identified tooth germ. Dry mouth due to a lack of sufficient saliva was another finding. Conclusion: In this case report, in the presence of anodontia, a removable total prosthesis, which is a non-invasive treatment option, was applied. Production of endosseous implants was postponed for a later time following the patient’s growth and development. How to cite this article: Gökçe D, Ayna E, Seyfioğlu Polat Z. Prosthetic rehabilitation of a hypohidrotic ectodermal dysplasia patient: A case report. Int Dent Res 2021;11(Suppl.1):292-8. https://doi.org/10.5577/intdentres.2021.vol11.suppl1.43 Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English.

Identification of A New Biomarker For Herpes Zoster Infection in Rheumatoid Arthritis

Herpes zoster (HZ) is known as a side effect of using biologics in rheumatoid arthritis (RA). Incidence of this side effect may be different depending on genetic factors because susceptibility to HZ infection varies by race. Here, we analyzed the statistical relationships of whole genome single nucleotide polymorphisms (SNPs) with HZ infection in biologics-treated RA patients.The subjects were 321 Japanese female patients (including 56 herpes virus infected patients) of RA using biologics. The relationships of 302,814 SNPs with HZ infection were analyzed using case-control analyses by Fisher’s exact tests. We picked up SNPs (P < 10-8) significantly associated with HZ infection. Then, herpes infection was compared among the genotypes using a multivariate logistic regression analysis adjusted for onset age of RA.Rs10774580 located in 2’-5’-oligoadenylate synthetase like gene (OASL) was significantly associated with herpes virus infection. The minor allele homozygous carrier was positively associated with herpes virus infection in multivariate analysis.We for the first time showed a significant relationship between a genetic factor and HZ infection among RA patients. Rs10774580 may be one of the biomarkers for HZ infection.

Early-onset ischaemic stroke in patient with novel F2 c.1824C>T gene variant and PAI-1 4G/4G, MTHFR 677TT genotype

Background/Aim. Ischemic stroke is a heterogeneous disorder caused by several genetic and environmental risk factors. It was suggested that coagulation disorders cause 1-4% of cases with ischemic stroke, especially in patients with early-onset of ischemic stroke. Case report. Here, we describe a case of patient who developed an unprovoked ishemic stroke in young adult. Biochemical, immunological and thrombophilia screening, as well DNA sequencing were performed in order to reveal molecular pathology underlying stroke of patient. Thrombophilia testing showed that patient was homozygous carrier for PAI-1 4G/5G and MTHFR C677T mutations. Additional genetic analysis revealed the presence of recently reported FII c.1824C>T gene variant, which is located in the last exon of prothrombin gene and previously shown to cause hyperprothrombinemia, hypofibrinolysis and altered fibrin clot phenotype. Conclusion. Our results suggest that newly reported FII c.1824C>T gene variant might have synergistic effect with PAI 4G/4G and MTHFR 677TT genotype in formation of altered fibrin clot phenotype characterized by thin, densely packed fibrin fibers, which makes clot less susceptible to fibrinolysis and greatly increases the risk for early ischemic stroke onset.

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

ObjectiveTo identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP).MethodsClinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP.ResultsA homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val) that segregated with HSP complicated by intellectual disability and microcephaly. Lymphoblastoid cell lines of homozygous carrier patients revealed significantly decreased activity of the mitochondrial aconitase enzyme and defective mitochondrial respiration. ACO2 encodes mitochondrial aconitase, an essential enzyme in the Krebs cycle. Recessive mutations in this gene have been previously associated with cerebellar ataxia.ConclusionsOur findings nominate ACO2 as a disease-causing gene for autosomal recessive complicated HSP and provide further support for the central role of mitochondrial defects in the pathogenesis of HSP.

A CASE OF LEFT-SIDED OCCLUSION OF THE RENAL ARTERY IN A CHILD WITH A GENETIC FORM OF THROMBOPHILIA

Recently has greatly improved diagnosis of hereditary thrombophilia. Unlike other forms of methylene tetrahydro folate reduktase gene mutation (MTHFR) that are characteristic of both venous and arterial thrombosis. In the literature described isolated cases of thrombosis of renal vessels in adults. The authors describe their own observation of a child with a congenital heart defect, who inherited thrombophilia manifested by the development of left-sided occlusion of the renal artery, resulting in severe renovascular hypertension and nephrosclerosis of left kidney. The girl on molecular genetic testing revealed a homozygous carrier of the plasminogen I type inhibitor allele, compound heterozygous allele carriers of MTHFR, heterozygous carrier of the methionine synthase reductase (MTRR) allele.

Homozygous Carrier of Prothrombin G20210A Mutation with Massive Pulmonary Embolism and His Family: Gender Differences of Susceptibility to Mutation

Prothrombin 20210 G>A mutation is the second most frequent inherited factor increasing the risk for developing venous thromboembolism (VTE). The risk for VTE in homozygous carriers of this mutation is not well studied because of their rarity are rare. We report a case of a homozygous carrier of prothrombin mutation: a young man with massive pulmonary embolism, and his family - an asymptomatic homozygous sister, heterozygous parents with asymptomatic mother, and father with history of deep venous thrombosis (DVT). To our knowledge, this is the first reported case of homozygous prothrombin mutation carriers in Bulgaria and the other Balkan countries. We conclude that the homozygous prothrombin mutation creates predisposition for VTE that can manifest or not depending on additional factors, one of which could be male gender.