X-linked hypohidrotic ectodermal dysplasia management with removable prosthesis in a pediatric patient: case report / Manejo de displasia ectodérmica hipohidrótica ligada al cromosoma X con prótesis removible en un paciente pediátrico: reporte de caso

Introduction: Ectodermal dysplasia is a rare genetic disorder that affects structures derived from ectoderm such as teeth, hair, nails, and sweat glands. Oligodontia is a common finding that affects the chewing, smiling and self- esteem of these pediatric patients. Case Report: We present a case report of a 7-years-old pediatric patient who consulted with his mother, showing the same condition. The intervention consisted of a removable prosthesis with satisfactory results. Conclusion: The X-linked hypohidrotic ectodermal dysplasia represents a challenge for a pediatric dentist who offers rehabilitation to the patient according to craniofacial development, age, socioeconomic status, and the number of missing teeth.

Introducción: La oligodoncia es un hallazgo común que afecta la masticación, la sonrisa y la autoestima de estos pacientes pediátricos. Case Report: Presentamos un reporte de caso de un paciente pediátrico de 7 años que consultó con su madre presentando la misma condición. La intervención consistió en una prótesis de remoción con resultados satisfactorios. Conclusión: La displasia ectodérmica hipohidrótica ligada al cromosoma X representa un desafío para un odontopediatra que ofrece rehabilitación al paciente de acuerdo con el desarrollo craneofacial, la edad, el nivel socioeconómico y el número de dientes faltantes.

Whole exome sequencing and analysis of hypohidrotic ectodermal dysplasia patients / 中华口腔医学杂志

Objective: To detect gene mutation in patients with hypohidrotic ectodermal dysplasia (HED) by using whole exome sequencing, to analyze the pathogenicity of the mutations, and to provide reference for the genetic diagnosis of HED patients. Methods: Peripheral blood genomic DNA was extracted from each of the HED patients and their family members collected in Peking University School and Hospital of Stomatology from August 2016 to August 2021. Whole exome sequencing and sanger sequencing were performed to detect gene mutations. Functions of the rare variants after the database filtering were analyzed by bioinformatics tools. Results: Three reported mutations of ectodysplasin A (EDA) gene (c.2T>C, c.161A>G, c.467G>A) and a mutation of ectodysplasin A receptor (EDAR) gene (c.871G>A) were detected by whole genome sequencing in four HED patients, and were verified by Sanger sequencing in four HED families. The EDAR gene mutation founded in this research was reported in HED patients for the first time. Bioinformatics tools predicted that the mutations of EDA gene detected in this study were highly species conserved and disease-causing. The combined annotation dependent depletion (CADD) scores of EDA gene mutations c.2T>C, c.161A>G and c.467G>A were 22.5, 26.3 and 25.5 respectively, and the genomic evolutionary rate profiling (GERP) scores were 2.16, 2.26 and 2.18 respectively. The EDAR gene mutation c.871G>A detected in this study was species conserved and possibly disease-causing. The CADD and GERP scores of EDAR gene mutation c.871G>A were 22.0 and 1.93 respectively. Conclusions: Three reported mutations of EDA gene and a previously unreported mutation of EDAR gene were detected in four HED families. Different mutations of EDA gene and EDAR gene could make different influence on the protein function and lead to the occurrence of HED.

Prosthetic dental management of a patient with anhidrotic ectodermal dysplasia: a case report / Manejo protésico dental de un paciente con displasia ectodérmica anhidrótica: reporte de caso

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.

Genetic testing and genotype-phenotype analysis for a child with X-linked hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation.@*METHODS@#Clinical data of the patient was collected. Peripheral blood samples were taken from the patient, his parents and 100 unrelated healthy controls. Genetic variants were detected by using next-generation sequencing using a skin-disease panel through targeted capture and next generation sequencing. Candidate variant was verified by Sanger sequencing. All literature related to genetic testing of XLHED patients in China was searched in the database, and the genotypes and phenotypes of patients in the literature and the correlation between them were statistically analyzed.@*RESULTS@#A novel splice site variant c.655_689del was detected in the patient but not among his parents and the 100 unrelated healthy controls. So far 61 variants of the EDA gene have been identified among Chinese patients with XLHED, which suggested certain degree of genotype-phenotype correlation.@*CONCLUSION@#A novel c.655_689del variant has been identified in the EDA gene, which has expanded the spectrum of EDA gene variant and facilitated delineation of the genotype-phenotype correlation of XLHED.

Clinical and genetic analysis of a child with X-linked hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with X-linked hypohidrotic ectodermal dysplasia (XLHED).@*METHODS@#Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents with informed consent and subjected to copy number variation (CNV) analysis and whole exome sequencing (WES).@*RESULTS@#The male infant manifested sparse hair, anhidrosis, anuresis due to polycystic kidney dysplasia, external genital malformation and anal atresia. WES has revealed a 406 bp hemizygous deletion at Xq13 (68 836 147-68 836 553) in the proband, which encompassed exon 1 of the EDA gene. A heterozygous deletion at the same site was detected in the mother, while no deletion or duplication of the site was detected in the father.@*CONCLUSION@#The hemizygous deletion of EDA gene exon 1 probably underlay the ectodermal dysplasia in the proband. Above result has provided a basis for genetic counseling and prenatal diagnosis for the family.

Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia (HED) due to partial deletion of EDA gene.@*METHODS@#The child has presented with HED complicated with epilepsy. Family trio whole exome sequencing (Trio-WES), copy number variation sequencing (CNV-seq), and karyotype analysis were carried out to explore the underlying genetic etiology.@*RESULTS@#The proband, a 7-year-and-8-month-old boy, presented with thin curly hair, thin and sparse eyebrow, xerosis cutis, susceptibility to hyperthermia from childhood, hypohidrosis, sharp/sparse/absent teeth, saddle nose, prominent forehead, auricle adulation and seizure. He was found to have a normal chromosomal karyotype, and no abnormality was found by Trio-WES. Genome-wide CNV-seq revealed a 341.90 kb deletion at Xq13.1q13.1 (chrX: 68 796 566-69 138 468). As verified by PCR-electrophoresis, the deletion has removed part of the EDA gene. The deletion was derived from his mother with normal hair, mild xerosis cutis, and sparse, decidulated and nail-like teeth. The mother was detected with a heterozygous 242.10 kb deletion at Xq13.1q13.1 (chrX: 68 836 154-69 078 250).@*CONCLUSION@#Both the proband and his mother have carried a Xq13.1 microdeletion involving part of the EDA gene. The clinical phenotypes of the mother and the proband were consistent with the clinical characteristics of X-linked recessive HED, for which partial deletion of the EDA gene is probably accountable.

Displasia ectodérmica hipohidrótica ligada al cromosoma X de novo por variante recurrente en un paciente mexicano / X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient

Resumen Introducción: Las displasias ectodérmicas son un grupo de genodermatosis que se caracterizan por distrofia de las estructuras derivadas del ectodermo. De ellas, la variedad más común es la hipohidrótica, con una incidencia de 7/100,000 nacidos vivos observada en todos los grupos étnicos. La displasia ectodérmica hipohidrótica tiene distintas etiologías. La presentación más frecuente es la asociada a un patrón de herencia ligado al cromosoma X, causada por variantes patogénicas del gen EDA en Xq13.1. EDA codifica a la ectodisplasina A, una molécula de señalización que participa en la comunicación epitelio-mesénquima durante el desarrollo de la piel y los anexos. Caso clínico: Varón de 6 años con las características clínicas cardinales de la displasia ectodérmica hipohidrótica ligada al cromosoma X (DEHLX), que incluyen hipotricosis, oligodoncia e hipohidrosis. El análisis del gen EDA por secuenciación directa mostró la presencia de la variante patogénica c.466C>T, p.Arg156Cys, rs132630313 con presentación de novo en el paciente. Esta variante ya ha sido reportada en diferentes poblaciones, incluyendo familias mexicanas, y constituye un punto caliente para mutación en EDA. Se analizaron los hallazgos clínicos, la etiología y el manejo de la DEHLX, en la que de manera reciente se ha planteado la posibilidad de otorgar tratamiento prenatal para prevenir sus manifestaciones clínicas. Conclusiones: Se pone de relevancia que el análisis molecular en pacientes con DEHLX corrobora el diagnóstico clínico y permite brindar asesoramiento genético con bases moleculares.

Abstract Background: Ectodermal dysplasias are a group of genodermatoses characterized by dystrophy of ectodermal derived structures. The most frequent presentation of the ectodermal dysplasias is the hypohidrotic type, which has an incidence of 7/100,000 newborns and has been described in all ethnic groups. The hypohidrotic ectodermal dysplasia (HED) has different etiologies, and it is more frequently associated with an X-linked pattern of inheritance caused by pathogenic variants of the EDA gene in Xq13.1. EDA encodes the protein ectodisplasin A, a signal molecule which participates in epithelium and mesenchymal development of the skin. Case report: A 6 year-old male patient with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. The direct sequencing analysis of EDA in our patient detected a de novo pathogenic variant, c.466C>T, p.Arg156Cys, rs132630313. This variant has been previously described in different ethnic groups, including Mexican families, and is considered a mutational hotspot. The clinical characteristics, etiology and management of the X-linked HED, including the possibility of prenatal therapy in order to avoid the clinical manifestations are discussed. Conclusions: The molecular analysis in patients with X-linked HED is of relevance, as it enables to confirm the clinical diagnosis and also, it allows a genetic assessment with molecular bases.

Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia / 北京大学学报(医学版)

OBJECTIVE@#To 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.@*METHODS@#Twelve 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.@*RESULTS@#Eight 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.@*CONCLUSION@#This 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.

Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志

OBJECTIVE@#To detect variant of EDA gene in a fetus with absence of germ teeth detected by prenatal ultrasonography.@*METHODS@#Clinical data and amniotic fluid and peripheral venous blood samples of the pregnant woman were collected for the analysis. Following extraction of genome DNA, the coding regions of the EDA gene were amplified by PCR and subjected to next-generation sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The pregnant woman was found to carry a heterozygous c.574G>A variant in the EDA gene, for which the fetus was hemizygous. Bioinformatic analysis suggested the variant to be pathogenic.@*CONCLUSION@#Combined ultrasonographic and genetic findings suggested the fetus is affected with X-linked hypohidrotic ectodermal dysplasia due to pathogenic variant of the EDA gene.

Displasia ectodérmica hipohidrótica tipo 1 ligada al cromosoma X, síndrome de Christ-Siemens-Touraine: caso clínico y revisión de la literatura / Type 1 hypohidrotic ectodermal dysplasia X-linked, the Christ-Siemens-Touraine syndrome: a clinical case and review of the literature

La displasia ectodérmica hipohidrótica tipo 1 ligada al X (DEH1-X) ­síndrome de Christ-Siemens-Touraine­ es una genodermatosis que forma parte de las displasias ectodérmicas, caracterizadas por alteraciones en el desarrollo de una o más estructuras derivadas de ectodermo. Clínicamente presenta hipotricosis, hipohidrosis e hipodontia de severidad variable. Propósito: Describir las características clínicas de la DEH1-X, su manejo odontológico y diferenciarla de otras entidades patológicas. Caso clínico: Paciente masculino de 18 años de edad, con antecedente familiar de displasia ectodérmica hipohidrótica diagnosticada también en un hermano menor. Acude a consulta por prótesis anterior fracturada y mal ajustada. Se trató mediante frenilectomía anterior y rehabilitación bucal protésica. Discusión: En el diagnóstico y tratamiento de las alteraciones congénitas de desarrollo es de particular importancia la identificación temprana y el trabajo en equipo multidisciplinario. El plan de tratamiento y manejo clínico de tejidos orales blandos y duros debe ser adaptado a las necesidades particulares del padecimiento, lo que permitirá establecer un mejor pronóstico. Conclusiones: La DEH1-X es una alteración congénita del desarrollo que afecta estructuras orales, por lo que debe ser identificada por el estomatólogo para atender correctamente las alteraciones dentales y evitar complicaciones posteriores (AU)

Type 1 hypohidrotic ectodermal dysplasia X-linked (DEH1-X) -Christ-Siemens-Touraine syndrome- is a genodermatosis. Ectodermal dysplasias are characterized by development alterations on one or more ectodermal derived structures. IN DEH1-X, patients present hypotrichosis, hypohidrosis and hypodontia of variable severity. Aims: To describe anatomic and clinical characteristics of the DEH1-X, dental treatment, and to differentiate from other clinical conditions. Case report: Male teenager, 18-year-old, was referred for replacement of anterior dental prosthesis. Family history for hypohidrotic ectodermal dysplasia was positive, younger brother with the same condition. Treatment consisted of anterior labial frenectomy and dental prosthetic rehabilitation with acceptable clinical and esthetic's results. Discussion: When diagnosing and treating patients with developmental genetic conditions is particularly important the early detection and the participation of interdisciplinary team work. The clinical treatment of hard and soft tissues of the oral cavity has to be planned and personalized according to the particular needing of each case, in order to achieve better results and long term prognosis. Conclusions: DEH1-X is a congenital developmental disorder, which affects oral structures, should be identified and treated appropriately by the dentist to prevent further dental complications (AU)

Estudio dínico y molecular en una familia con displasia ectodermica hipohidrotica autosomica dominante / Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia

La displasia ectodérmica hipohidrótica (DEH) es una entidad infrecuente caracterizada por deficiencia en el desarrollo de estructuras derivadas del ectodermo y es causada por mutaciones en los genes EDA, EDAR o EDARADD, que pueden exhibir hallazgos clínicos similares, debido a una vía de señalización común. Las mutaciones en el gen EDA causan la DEH ligada al X, que es la forma más frecuente. Por su parte, las mutaciones en los genes EDAR y EDARADD causan la DEH con patrón de herencia autosómica dominante y recesiva. Los hallazgos clínicos más resaltantes son hipodoncia, hipotricosis e hipohidrosis, que pueden llevar a episodios de hipertermia. Se presentan los hallazgos clínicos en un niño con DEH con patrón de herencia autosómica dominante, cuyo análisis molecular demostró mutación heterocigótica c.1072C>T (p.Arg358X) en el gen EDAR, y se discuten los diferentes aspectos clínicos encontrados en esta mutación en los casos descritos en la literatura.

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.

Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia

No abstract available.

Displasia ectodérmica hipohidrótica: reporte de caso / Hypohydrotic ectodermal dysplasia: case report

La displasia ectodérmica hipohidrótica (DEH) es uno de los 150 tipos de displasias ectodérmicas que existen. Es una afección genética poco frecuente caracterizada por hipohidrosis (disminución o ausencia de sudoración), hipodoncia (dientes faltantes y aquellos que crecen son generalmente deformes) e hipotricosis (cabello fino y escaso). La mayoría de los casos se relacionan con una herencia recesiva ligada al cromosoma X, afectándose por consiguiente, únicamente individuos varones. Sin embargo, también existen otras formas que se expresan de manera hereditaria autosómica dominante y recesiva.El presente artículo reporta el caso de una niña de 5 años de edad, con un cuadro compatible con una DEH, que presenta cabello delgado y escaso, alteraciones de número y forma dentaria, escasa sudoración y distrofia de las uñas. (AU)

The Ectodermal hypohidrotic dysplasia (EHD) is one of the 150 types of ectodermal dysplasia in the world. It is a rare genetic disorder characterized by: hypohidrosis (decrease or absence of sweating), hypodontia (missing teeth and those that grow are usually deformed) and hypotrichosis (fine and thinning hair).Most cases are associated with a recessive X -linked inheritance, affecting therefore only male individuals. However, there are other ways that are expressed by heritage autosomal dominant and recessive.This article reports the case of a girl of 5 years old, with symptoms compatible with EHD, having thin and sparse hair, abnormal tooth number and shape, little sweating and nail dystrophy. (AU)

Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X / Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia

Las displasias ectodérmicas comprenden más de 200 entidades clínicamente distintivas, las cuales afectan, al menos, dos estructuras derivadas del ectodermo, que incluyen la piel, el pelo, las unas, los dientes, las glándulas sudoríparas y sebáceas. La displasia ectodérmica hipohidrótica ligada al X es el tipo más frecuente y es causada por mutación del gen EDA, que codifica la ectodisplasina-A. Su frecuencia es menor de 1 en 100000 individuos y se caracteriza clínicamente por presentar hipodoncia, hipohidrosis, hipotricosis y alteraciones oculares. Se expone el caso de un escolar evaluado de forma multidisciplinaria con diagnóstico clínico y molecular de displasia ectodérmica hipohidrótica ligada al X con mutación tipo cambio de sentido c.1133C>,T, p.T378M, en el gen EDA.

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.

Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery / Manejo anestésico de paciente pediátrico com displasia ectodérmica hipoidrótica submetido a cirurgia de emergência

ABSTRACT Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.

As displasias ectodérmicas são condições raras, com uma tríade de hipotricose, anodontia e anidrose. Em revisão da literatura há apenas alguns relatos de manejo anestésico de pacientes com displasias ectodérmicas. Hipertermia é um risco muito sério que pode ocorrer por causa de defeito das glândulas sudoríparas. O presente caso envolve uma criança de 10 anos com displasia ectodérmica que se apresentou com abdome agudo e foi considerada para uma cirurgia de emergência. Nosso objetivo foi demonstrar o manejo bem-sucedido desse caso, com o uso de uma combinação de anestesia geral e peridural. É importante para o anestesiologista obter informações sobre essa síndrome, em caso de operações de emergência, pois pode evitar complicações graves e até salvar vidas.

Mini-implants: Alternative for Oral Rehabilitation of a Child with Ectodermal Dysplasia

Ectodermal dysplasia is a rare congenital disease that affects several structures of ectodermal origin. The most commonly related oral characteristics are hypodontia, malformed teeth and underdeveloped alveolar ridges. New alternative treatments are needed due to the failure of the conventional prosthesis retention. This case report outlines the oral rehabilitation treatment of a 9-year-old girl with ectodermal dysplasia. The treatment was performed with conventional prosthesis upon mini-implants. The mini-implants provided prosthetic retention. The patient reported a good adaptation of the dental prosthesis and satisfaction with the treatment. The increased self-esteem improved the socialization skills of the girl. In this case report, use of prosthesis with mini-implants was satisfactory for prosthetic retention. However, clinical studies with long-term follow-up are needed to test the mini-implants as an alternative for oral rehabilitation of children with ectodermal dysplasia.

A displasia ectodérmica é uma doença congênita rara, que afeta várias estruturas de origem ectodérmica. As principais características na cavidade oral são hipodontia, má formação dentária e subdesenvolvimento do rebordo alveolar. Devido às falhas de retenção das próteses convencionais, novas alternativas de tratamento são necessárias. Este relato de caso descreve o tratamento de reabilitação oral em uma menina de 9 anos de idade com displasia ectodérmica. O tratamento foi realizado com próteses dentárias convencionais sobre mini-implantes. Os mini-implantes promoveram a retenção da prótese. A paciente relatou uma boa adaptação das próteses e satisfação com o tratamento. O aumento da autoestima melhorou as atividades de socialização da criança. Neste estudo de caso, o uso de prótese com mini-implantes foi satisfatória para a retenção da prótese. No entanto, estudos clínicos longitudinais são necessários para testar os mini-implantes como uma alternativa para a reabilitação oral de crianças com displasia ectodérmica.

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia

No abstract available.

One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia

No abstract available.

Identification of a novel c.822 G>T mutation of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of ectodysplasin A (EDA) gene in a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia.</p><p><b>METHODS</b>Blood samples were collected from the affected male proband, his family members and 103 unrelated individuals. Following extraction of genomic DNA, coding sequence of the EDA gene was amplified with PCR, and DNA sequencing was performed to detect potential mutation.</p><p><b>RESULTS</b>A novel missense mutation, c.822G>T (p.W274C), was identified in exon 7 of the EDA gene in the proband, whilst his mother was found to be a heterozygous carrier. The same mutation was also found in 5 other family members including one affected male and four females, but was absent in unaffected males and 103 unrelated individuals.</p><p><b>CONCLUSION</b>A c.822G>T mutation in exon 7 of the EDA gene probably underlies the disease in this Chinese family.</p>