ABSTRACT
Introduction: Ectodermal dysplasia (ED) comprises a broad group of genetic disorders characterized by alterations of the structures derived from the ectoderm, including those of the stomatognathic system. Case Report: The present article aims to report the prosthetic management of a patient with anhidrotic ectodermal dysplasia. A male patient diagnosed with ED who attended the dental consultation displaying oligodontia; underdeveloped alveolar ridges were observed. Results: The established treatment consisted of the adaptation of implant-supported fixed full-arch prosthesis designed through CAD-CAM technology for the lower jaw and of a removable partial prosthesis with muco-dental support for the upper jaw. The dental approach of patients with ED is based on a correct analysis of the facial characteristics and stomatological conditions of each subject. Conclusion: A multidisciplinary approach is mandatory due to the biological and functional complexity in biomechanical terms of these individuals.
Introducción: La displasia ectodérmica (DE) comprende un amplio grupo de trastornos genéticos caracterizados por alteraciones de las estructuras derivadas del ectodermo, incluidas las del sistema estomatognático. Reporte de Caso: El presente artículo tiene como objetivo informar del manejo protésico de un paciente con displasia ectodérmica anhidrótica. Paciente varón diagnosticado de DE acudió a consulta odontológica por oligodoncia; Se observaron crestas alveolares subdesarrolladas. Resultados: El tratamiento establecido consistió en la adaptación de una prótesis de arcada completa fija implantosoportada diseñada mediante tecnología CAD-CAM para el maxilar inferior y de una prótesis parcial removible con soporte muco-dental para el maxilar superior. El abordaje odontológico de los pacientes con DE se basa en un correcto análisis de las características faciales y condiciones estomatológicas de cada sujeto. Conclusión: Un enfoque multidisciplinario es obligatorio debido a la complejidad biológica y funcional en términos biomecánicos de estos individuos.
Subject(s)
Humans , Male , Adult , Young Adult , Ectodermal Dysplasia/rehabilitation , Dental Prosthesis, Implant-Supported , Anodontia/rehabilitation , Dental Implants , Treatment Outcome , Dental Prosthesis Design , Dental Implants, Single-Tooth , Ectodermal Dysplasia 1, AnhidroticABSTRACT
Objective To investigate the effects of hydrogen sulfide (H2S) on the tubular interstitial fibrosis and on the levels of kidney injury molecule-1 (KIM-1) and ectodermal dysplasia-1 (ED-1) in the process of renal interstitial fibrosis in rats with unilateral ureteral occlusion(UUO).Methods Ninety-six Sprague-Dauley (SD) male rats were divided into 4 groups randomly:sham-operated group (n =24),model group (n =24),low-dose therapy group (n =24) and high-dose therapy group(n =24).The rats in the model group and treatment groups were ligated at the left ureter and UUO was induced,meanwhile,the rats in the control group were free from the left ureter ligation.Rats received sodium hydrosulfide(NaHS) in traperitoneatly(1.4 μmol/kg,twice a day),and NaHS(7.0 μmol/kg,twice a day),respectively.Rats in sham-operated group and the model group were injected intraperitoneally with identical voluminal 9 g/L saline.Eight rats in each group were sacrificed randomly at the 7 days,14 days and 21 days,respectively.The concentration of plasma H2S was detected.Renal tubular interstitial damage and interstitial fibrosis were evaluated with routine HE staining and Masson staining under microscope,and both of them were used to evaluate the obstruction of renal histopathological changes.The expressions of ED-1 and KIM-1 were measured with immunohistochemical staining.Results 1.The pathological findings showed that the renal tubular interstitial changes were not obvious in the shamoperated group.The tubular epithelial cells in the model group and treatment groups showed swelling and vacuoles degeneration,with renal interstitial broadening,interstitial cells and extracellular matrix increasing.The renal tubular interstitial pathological injury of model group and treatment group were more serious than those in the sham-operated group at each time point(P ＜ 0.05).The renal tubular interstitial pathological injury of the treatment groups were obviously lower than that in the model group(P ＜0.05).However,there was no statistically significant difference between highdose therapy group and low-dose therapy group(P ＞ 0.05).2.Immunohistochemical analysis showed that expressions of ED-1 and KIM-1 in renal tubular interstitices in the model group and the treatment groups were higher than those in the sham-operated group at each time point(P ＜ 0.05).The expressions of ED-1 and KIM-1 in renal tubular interstitices in the treatment groups were obviously lower than those in the model group(P ＜ 0.05).There was no statistically significant difference between the high-dose therapy group and the low-dose therapy group(P ＞0.05).3.Plasma H2S levels in model group and treatment group were lower than those in the sham-operated group at each time point (P ＜ 0.05).The plasma H2S level of the treatment group was obviously higher than that in the model group(P ＜ 0.05).However,there was no statistically significant difference between high-dose therapy group and low-dose therapy group (P ＞0.05).Conclusions H2S implements renal protection effect partly by reducing the expression of ED-1 and KIM-1 in tubule interstitices to ease tubular interstitial fibrosis.
ABSTRACT
To report a case of extensive globe enlargement due to secondary glaucoma in a young adult suffering from ocular surface disorders related to hypohidrotic ectodermal dysplasia. To the best of our knowledge, this is the first report of buphthalmos in the adulthood.
Relato de caso do aumento extenso do globo ocular decorrente de glaucoma secundário e disfunção de superfície ocular em um paciente adulto jovem portador de displasia ectodérmica anidrótica. Primeiro relato de caso de buftalmo em adulto.
Subject(s)
Adolescent , Humans , Male , Ectodermal Dysplasia 1, Anhidrotic/complications , Glaucoma/complications , Hydrophthalmos/etiologyABSTRACT
A síndrome de Christ-Siemens-Touraine (displasia ectodérmica hipoidrótica) é uma síndrome rara, caracterizada pela tríade de sudorese reduzida ou ausente, hipotricose e dentição defeituosa. Bossas frontais proeminentes, nariz em sela, lábio inferior espesso e queixo pontudo fazem com que os pacientes tenham uma fácies característica e semelhante. A síndrome completa ocorre em homens, visto tratar-se de herança recessiva ligada ao X.
Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.