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Background: This case report presents the dimensional changes in dental arches in a patient with hypohidrotic ectodermal dysplasia (HED) after complete denture rehabilitation, with an 18-year follow-up period. Case report: The patient had complete anodontia and was successfully rehabilitated with conventional complete dentures at 3, 4, 5, 7, 9, 12, 16, and 21 years of age. Each successive denture was larger and contained more and larger teeth so as to accommodate for the increase in the size of the developing jaw. A series of diagnostic casts were used to measure the dimensional changes in the arch length and width of the alveolar ridge. Cast analysis revealed that there was an increase in arch length and width in both the maxilla and mandible over time. Cephalometric analysis of craniofacial development was performed at 21 years of age, and suggested protrusion of the maxilla and mandible. Conclusions: The absence of teeth due to HED did not affect the dimensional changes in dental arches after complete denture rehabilitation from childhood to adulthood. The prosthetic treatment improved the patient’s social integration and enabled the development of normal dietary habits, speech, and facial esthetics, which in turn led to improved quality of life.

患儿 男，39日龄，因“咳嗽8 d，腹泻3 d，哭闹12 h，面灰3 h”2020年12月就诊于昭通市第二人民医院，患儿于其母孕25周时B超提示小于孕周11 d，左侧鼻骨偏短，右侧鼻骨缺如。出生后无头发、无眉毛、无汗、高热，诊断为“疑似外胚层发育不良”。父母全外显子组基因检测结果示母亲携带EDA基因c.693delC（p.Gln232Argfs*48）杂合变异。对产前诊断留存的羊水DNA样本进行Sanger测序示患儿该位点为半合子变异。.

To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation.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.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.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.

Purpose Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We report on a novel ectodysplasin-A (EDA) mutation that is expected to be involved in pathogenesis of HED. Methods Hypohidrotic ectodermal dysplasia genes, including EDA, EDAR and EDARADD, were analyzed using next-generation sequencing (NGS). The detected mutation on the EDA gene was confirmed in the patient and his mother using Sanger sequencing. Results The patient presented with adontia, absence of gum development, hyperthermia and hypohidrosis. Our genetic analysis of the patient revealed a novel frameshift hemizygous mutation (c.898_924 + 8del35ins4CTTA) on the EDA gene. The patient’s mother showed a mild HED phenotype. Direct sequencing of the EDA gene in the region where her son had the mutation showed the same mutation in a heterozygous state. Conclusion We identified a novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked HED. The difference between our patient’s symptoms and those recorded for some previous subjects may be due to the differences in the mutations involved. Electronic supplementary material The online version of this article (10.1186/s11658-019-0174-9) contains supplementary material, which is available to authorized users.

To explore the clinical and genetic characteristics of a child with X-linked hypohidrotic ectodermal dysplasia (XLHED).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).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.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.

To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia (HED) due to partial deletion of EDA gene.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.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).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.

Background Hypohidrotic ectodermal dysplasia (HED) is a group of genodermatoses in which deficient ectodysplasin A signalling leads to maldevelopment of skin appendages, various eccrine glands, and teeth. Individuals with HED often have disrupted epithelial barriers and, therefore, were suspected to be more susceptible to coronavirus infection. Methods 56 households with at least one member who had coronavirus disease of 2019 (COVID-19) were enrolled in a longitudinal study to compare the course of illness, immune responses, and long-term consequences of severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection in HED patients (n = 15, age 9–52 years) and control subjects of the same age group (n = 149). Results In 14 HED patients, mild or moderate typical COVID-19 symptoms were observed that lasted for 4–45 days. Fever during the first days sometimes required external cooling measures. The course of COVID-19 was similar to that in control subjects if patients developed antibodies blocking the SARS-CoV-2 spike protein. Five out of six HED patients with completely abrogated ectodysplasin A signalling (83%) suffered from chronic, in two cases very severe fatigue following COVID-19, while only 25% of HED patients with residual activity of this pathway and 21% of control subjects recovering from COVID-19 experienced postinfectious fatigue. Hair loss after COVID-19 was also more frequent among HED patients (64%) than in the control group (13%). Conclusions HED appears to be associated with an increased risk of long-term consequences of a SARS-CoV-2 infection. Preventive vaccination against COVID-19 should be recommended for individuals affected by this rare genetic disorder. Supplementary Information The online version contains supplementary material available at 10.1186/s13023-021-02011-z.

Introduction Hypohidrotic ectodermal dysplasia (HED) is a genetic condition typified by alterations in skin structures including sweat glands, hair, nails, and teeth. Hair findings in HED have been poorly characterized in larger series. Objective To characterize scalp and hair findings of patients with HED clinically and with trichoscopy and light microscopy. Methods A cross-sectional study in 21 pediatric HED patients was performed using available clinical and scalp dermatoscopic images, as well as pulled-hair samples for clinical evaluation, trichoscopic, and light microscopic analyses. Results Seventeen out of 21 patients (81%) were men. Twenty patients had straight hair. Sixteen patients had decreased hair density, 6 of whom had hair loss mainly in the temporal and occipital regions. Fourteen patients had hair whorls. On trichoscopy, we observed: single-hair follicular units (n = 19, 90%), scalp hyperpigmentation (n = 13, 62%), variable diameter of the hair shafts (n = 12, 57%), perifollicular scales (n = 8, 38%), scalp erythema (n = 8, 38%), and short curly pigtail hairs (n = 6, 29%). On light microscopy, findings included: hair shafts with irregular diameter (n = 7, 33%), heterogeneous hair color (n = 6, 29%), trichoptilosis (n = 2, 10%), and pili torti (n = 1, 5%). Conclusions In this series, hair findings in HED were similar to those described in previous studies. However, we describe two new clinical and two trichoscopic findings: decreased hair density mainly in the temporal and occipital regions, oblique upwards occipital hair follicles orientation, angled hairs, and short curly pigtail hairs. These heterogeneous findings may reflect the multiple factors and signaling pathways that can be affected in these syndromes.

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.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.466CT, 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.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.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.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.466CT, 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.Se pone de relevancia que el análisis molecular en pacientes con DEHLX corrobora el diagnóstico clínico y permite brindar asesoramiento genético con bases moleculares.

Background Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when the patient is affected by only one impaired ectodermal structure, such as in non-syndromic tooth agenesis (NSTA) disorder. Hypohidrotic ectodermal dysplasia (HED) is the most highly represented ED. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common subtype, with an incidence of 1/50,000–100,000 males, and is associated with the EDA gene (Xq12-q13.1); the dominant and recessive subtypes involve the EDAR (2q13) and EDARADD (1q42.3) genes, respectively. The WNT10A gene (2q35) is associated more frequently with NSTA. Our goal was to determine the mutational spectrum in a cohort of 72 Spanish patients affected by one or more ectodermal derivative impairments referred to as HED (63/72) or NSTA (9 /72) to establish the prevalence of the allelic variants of the four most frequently associated genes. Sanger sequencing of the EDA, EDAR, EDARADD and WNT10A genes and multiplex ligation-dependent probe amplification (MLPA) were performed. Results A total of 61 children and 11 adults, comprising 50 males and 22 females, were included. The average ages were 5.4 and 40.2 years for children and adults, respectively. A molecular basis was identified in 51/72 patients, including 47/63 HED patients, for whom EDA was the most frequently involved gene, and 4/9 NSTA patients, most of whom had variants of WNT10A. Among all the patients, 37/51 had variants of EDA, 8/51 had variants of the WNT10A gene, 4/51 had variants of EDAR and 5/51 had variants of EDARADD. In 42/51 of cases, the variants were inherited according to an X-linked pattern (27/42), with the remaining showing an autosomal dominant (10/42) or autosomal recessive (5/42) pattern. Among the NSTA patients, 3/9 carried pathogenic variants of WNT10A and 1/9 carried EDA variants. A total of 60 variants were detected in 51 patients, 46 of which were different, and out of these 46 variants, 12 were novel. Conclusions This is the only molecular study conducted to date in the Spanish population affected by ED. The EDA, EDAR, EDARADD and WNT10A genes constitute the molecular basis in 70.8% of patients with a 74.6% yield in HED and 44.4% in NSTA. Twelve novel variants were identified. The WNT10A gene has been confirmed as the second molecular candidate that has been identified and accounts for one-half of non-EDA patients and one-third of NSTA patients. Further studies using next generation sequencing (NGS) will help to identify other contributory genes in the remaining uncharacterized Spanish patients.

AIM: Morphological deviations in the upper cervical spine and craniofacial morphology in patients with X-linked hypohidrotic ectodermal dysplasia (XLHED) were compared to non-syndromic controls.METHODS: All children and adolescents with genetically verified XLHED, registered at the Resource Centres for Oral Health in Rare Diseases, who met the inclusion criteria, were included. The group thus comprised 15 XLHED patients (3 girls and 12 boys, aged 8-16 years, mean 11.2 years). The control group comprised 22 non-syndromic pre-orthodontic children (14 girls and 8 boys aged 9-16 years, mean 11.9 years) with agenesis of one tooth, neutral occlusion and normal craniofacial morphology. The craniofacial and upper spine morphology was analysed on lateral cephalograms by standard methods. Differences between XLHED patients and controls were tested and adjusted for age and gender by multiple regression analyses.RESULTS: Morphological deviations in the upper spine occur significantly more often in XLHED patients compared to controls (60 vs. 9.1%; p CONCLUSIONS: The upper spine and the craniofacial morphology were different in XLHED patients compared to controls. The results of this study may contribute to a further understanding of the craniofacial and spinal phenotypic spectrum in patients with XLHED and thus have implications for diagnosis and treatment planning of these patients.

Hypohidrotic ectodermal dysplasia (HED) comprises a large group of inherited disorders of ectodermal structures, characterised by hypo- or anhidrosis, hypotrichosis and hypo- or oligo- or anodontia. We aimed to systematically assess the spectrum of prosthodontic approaches with regard to the patients' age and to provide clinical implications for practicing dentists. An electronic and manual search was conducted in four databases (Medline, LIVIVO, Cochrane Library, Web of Science Core Collection). Publications of multiple study designs written in English or German without data restrictions, reporting on prosthodontic treatment of patients diagnosed with HED and afflicted with oligo- or anodontia, were included. In total, 75 articles on 146 patients were analysed according to the patients' age. In children aged 2-17 years, removable full or partial (over)dentures represented standard treatment. In the mandible, implant-supported removable dentures on two interforaminal implants presented an alternative, already in young childhood. In cases with more than six teeth per jaw, also fixed (resin) bridges were used, frequently after orthodontic treatment. In adults, fixed or removable reconstructions with the help of up to eight implants per jaw, usually placed after bone augmentation procedures, were standard. Ten case reports/series with long-term follow-up illustrated the need for consistent maintenance including denture renewals. Prosthodontic rehabilitation should start in early childhood and needs to be revised in accordance with the patients' growth. Treatment should be carried out by a multidisciplinary team addressing variable demands in different age groups.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder that affects ectodermal structures and presents with a characteristic facial appearance. The ability of automated facial recognition technology to detect the phenotype from images was assessed . In Phase 1 of this study we examined if the age of male patients affected the technology's recognition. In Phase 2 we investigated how well the technology discriminated affected males cases from female carriers and from individuals with other ectodermal dysplasia syndromes. The system detected XLHED to be the most likely diagnosis in all genetically confirmed affected male patients of all ages, and in 55% of heterozygous females. Interestingly, patients with other ED syndromes were also detected by the XLHED-targeted analysis, consistent with shared developmental features. Thus the automated facial recognition system represents a promising non-invasive technology to screen patients at all ages for a possible diagnosis of ectodermal dysplasia, with greatest sensitivity and specificity for males affected with XLHED.

Functional and esthetic oral rehabilitation of young patients affected by ectodermal dysplasia is traditionally performed with direct composite restorations, which encounter various limitations. However, recent advances in computer-aided design/computer-assisted manufacturing (CAD/CAM) composites have led to the introduction of high-performance materials. In the present case report, a 9-year-old patient was treated with 20 CAD/CAM partial and peripheral restorations in polymer-infiltrated-ceramic-network material to restore deciduous and permanent teeth. The restorations were minimally invasive, since they did not require any tooth tissue preparation. Appropriate occlusal relationships with increased vertical dimension of occlusion were obtained. Tooth anatomy and esthetics were significantly improved, and chairtime was reduced.

Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), hypotrichosis, hypodontia, and other distinct facial features. Furthermore, ocular tissues of ectodermal origin may also be affected in this disease. The most common ocular manifestations of hypohidrotic ectodermal dysplasia are dry eye, madarosis, alterations in the meibomian glands, abnormalities in the nasolacrimal duct, and infantile glaucoma. Herein, author reports a case of hypohidrotic ectodermal dysplasia in a 12-year-old Indian boy with dry eye and lacrimal sac mucocele.

Hypohidrotic ectodermal dysplasia (HED) is a genetic condition characterized by abnormal development of two or more structures of the ectoderm, such as skin, hair, nails, teeth, or sweat glands. The most common dental anomalies are oligodontia and anodontia but taurodontism has also been described. These patients present a decrease of alveolar bone volume and alveolar ridge tapering due to congenitally missing teeth. The purpose of this report is to describe the case of a six-year-old girl diagnosed with HED who presented with conical teeth, taurodontic molars, and multiple agenesis that decreased the patient's self-esteem and social interactions. The proposed treatment was to accomplish an oral rehabilitation that was functional, provided the patient with the ability for correct mastication, good esthetics, and comfort, using restorations and devices that did not interfere with the child's orofacial growth and development. (J Dent Child 2019;86(3):158-63).

Objective Mutations in the EDA gene, encoding the epithelial morphogen ectodysplasin-A, can result in different but overlapping phenotypes. Therefore the aim of the study was to search for etiological variations of EDA and other candidate genes in two unrelated Egyptian male children with sporadic non-syndromic tooth agenesis (NTA) and hypohidrotic ectodermal dysplasia (HED). Design Direct sequencing of the coding regions including exon-intron boundaries of EDA, MSX1, PAX9, WNT10A and EDAR was performed in probands and their available family members. Results Two etiological mutations were found in the EDA coding region. The patient with NTA in both deciduous and permanent dentition was a carrier of a novel in-frame deletion situated in the short collagenous domain (c.663-680delTCCTCCTGGTCCTCAAGG, p.222-227delPPGPQG). The second mutation, located outside the minimal furin consensus motif (c.463C>T, p.Arg155Cys, rs132630312), was identified in the patient exhibiting all typical features of HED. The identified EDA mutations were not detected in probands’ family members as well as in 188 unrelated control individuals. No pathogenic variants were found in the MSX1, PAX9, WNT10A and EDAR genes. Conclusion Our results increase the knowledge of the spectrum of EDA mutations and confirm that this gene is an important candidate gene for two developmental diseases sharing the common feature of the congenital lack of teeth. In addition, these results can support the hypothesis that X-linked HED and EDA-related NTA are the same disease with different degrees of severity.

X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is the most common form of ectodermal dysplasia, presenting with the triad of hypotrichosis, hypodontia, and hypohidrosis. This disorder is caused by mutations in EDA, which encodes ectodysplasin A, a member of the tumor necrosis factor superfamily. In this study, we describe clinical and genetic characteristics of 10 Korean XLHED patients (9 males, 1 female) from 9 families. Nine out of the 10 patients manifested the cardinal triad of symptoms. Six patients had a positive family history, while 2 patients were brothers. The most common initial presentation was hypotrichosis or hypodontia, while 1 patient presented with recurrent high fever in early infancy. Sanger sequencing of the EDA gene was performed and revealed 9 different mutations. Three had been reported previously, and 6 were novel mutations. One female patient, carrying a previously reported missense mutation, might be affected by skewed X-inactivation. This is the first observational study investigating genetically confirmed XLHED patients in Korea. To provide appropriate supportive care and genetic counseling, clinicians should consider the possibility of XLHED in the differential diagnosis of recurrent fever in infants, as well as recognize the typical triad of symptoms.

Hypohidrotic ectodermal dysplasia (HED) is a rare disease that results from the abnormal development of the ectodermal germ layer in early embryogenesis. In these patients, hypoplasia of Meibomian glands is one of the most frequent ophthalmological manifestations. The main aim of this study is to evaluate the usefulness of meibography for the morphology of Meibomian glands in a group of patients with HED, and to compare it with a control group.A total of 14 eyes of 7 patients diagnosed with HED were included, and 32 eyes of 16 patients were included as a control group. The meibographic study was carried out using CA-800 Corneal Analyser (Topcon®). Grading of images was assessed by a meibomian gland atrophy score: grade 0, no alterations; grade 1, ≤25% gland atrophy; grade 2, 25% to 50% gland atrophy; grade 3, 51% to 75% gland atrophy; and grade 475% gland atrophy. Both groups were compared using the Mann-Whitney U non-parametric test.All patients with HED showed some degree of gland atrophy, with 57% showing severe atrophy (75% of gland atrophy), 35.8% with a grade 3, and 7.2% grade 2. The mean grade of glandular atrophy in HED was 3 (1-4). In the control group, 62.5% had no involvement (grade 0), with 28.1% showing grade 1 and 9.4% grade 2 gland atrophy. The mean glandular atrophy grade within the control group was 0 (0-2). There were statistically significant differences between both groups.Meibography is a simple diagnostic tool that allows to differentiate between patients without disease and those with HED.

Ectodermal dysplasia (ED) represents a collection of rare disorders that result from a failure of development of the tissues derived from the embryonic ectoderm. ED is often associated with hair, teeth, and skin abnormalities, which are serious conditions affecting the quality of life of the patient. To date, a large number of genes have been found to be associated with this syndrome. Here, we report a patient with hypohidrotic ED (HED) without family history. We identified that this patient's disorder arises from an X-linked HED with a mutation in the EDA gene (G299D) found by whole-exome sequencing. In addition, in this paper we summarize the disease-causing mutations based on current literature. Overall, recent clinical and genetic research involving patients with HED have uncovered a large number of pathogenic mutations in EDA, which might contribute to a full understanding of the function of EDA and the underlying mechanisms of HED caused by EDA mutations.

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

Hypohidrotic ectodermal dysplasia (HED) has a prevalence of 1:5,000-10,000 newborns and it is characterized by hypotrichosis and abnormalities in teeth and sweat glands.1 Most patients have an X-linked (XLHED) pattern of inheritance due to mutations in EDA which encodes for ectodysplasin. In addition, three HED-associated autosomal genes are known: EDAR which encodes for an ectodysplasin receptor; EDARADD corresponding to a cytoplasmic adaptor molecule and WNT10A which encodes for a signaling molecule of the WNT/β-catenin pathway.1-4 This article is protected by copyright. All rights reserved

Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked hypohidrotic ectodermal dysplasia (XL-HED) is associated with mutations in ectodysplasin (EDA1). Hypohidrosis due to hypoplastic sweat glands and thin, sparse hair are phenotypic features that significantly affect the daily lives of XL-HED individuals and therefore require systematic analysis. We sought to determine the quality of life of individuals with XL-HED and to quantify sweat duct and hair phenotypes using confocal imaging, pilocarpine iontophoresis, and phototrichogram analysis. Using these highly sensitive and non-invasive techniques, we demonstrated that 11/12 XL-HED individuals presented with a complete absence of sweat ducts and that none produced sweat. We determined that the thin hair phenotype observed in XL-HED was due to multiple factors, such as fewer terminal hairs with decreased thickness and slower growth rate, as well as fewer follicular units and fewer hairs per unit. The precise characterization of XL-HED phenotypes using sensitive and non-invasive techniques presented in our study will improve upon larger genotype-phenotype studies and in the assessment of future therapies in XL-HED.

Hypohidrotic ectodermal dysplasia (HED), a rare and heterogeneous hereditary disorder, is characterized by deficient development of multiple ectodermal structures including hair, sweat glands and teeth. If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a common signaling pathway. Single-nucleotide polymorphisms (SNPs) affecting any gene product in this pathway may cause inter- and intrafamilial variability. In a cohort of 124 HED patients, genotyping was attempted by Sanger sequencing of EDA, EDA1R, EDARADD, TRAF6 and EDA2R and by multiplex ligation-dependent probe amplification (MLPA). Pathogenic mutations were detected in 101 subjects with HED, affecting EDA, EDA1R and EDARADD in 88%, 9% and 3% of the cases, respectively, and including 23 novel mutations. MLPA revealed exon copy-number variations in five unrelated HED families (two deletions and three duplications). In four of them, the genomic breakpoints could be localized. The EDA1R variant rs3827760 (p.Val370Ala), known to lessen HED-related symptoms, was found only in a single individual of Asian origin, but in none of the 123 European patients. Another SNP, rs1385699 (p.Arg57Lys) in EDA2R, however, appeared to have some impact on the hair phenotype of European subjects with EDA mutations.

Hypohidrotic ectodermal dysplasia (HED) consists of disorders resulting from molecular alterations of ectodysplasin-A (EDA) pathway. Hypomorphic mutations in NF-kB essential modulator, downstream EDA, result in HED with immunodeficiency (HED-ID), characterized by susceptibility to encapsulated pyogenic bacteria infections. Increased susceptibility to pneumococcal infections and poor response to polysaccharide antigens are associated with defect in T-independent B-cell immunity. We investigated B-cell differentiation and immunoglobulin secretion induced by the TLR9 ligand CpG in two HED-ID and in a HED patient caused by EDA mutations (XLHED). In HED-ID, only few B cells differentiated into plasma cells upon TLR9 stimulation and memory B cells did not produce IgG and IgA, but small amounts of IgM. Unexpectedly, memory B cells from XLHED patient failed to produce normal IgA or IgG amount upon TLR9 stimulation. Our findings expand the knowledge about the pathogenesis of humoral alterations in HED patients and help explain the susceptibility to pneumococcal infections.

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

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.

To evaluate exertional overheating and the impact of physical exercise on individuals with hypohidrotic ectodermal dysplasia (HED) and to assess protective effects of cooling devices, 13 boys and male adolescents with X-linked HED (XLHED) and age-matched healthy male controls were studied during standardized exercise on a bicycle ergometer at ambient temperatures of 25 and 30°C, without cooling and with evaporative skin cooling devices at 30°C. Body core temperature during and after exercise, heart rate, performance, endurance, and serum lactate were investigated. XLHED subjects experienced a significantly greater rise in body temperature after cycling than healthy controls, and their body temperature remained elevated longer. Maximum heart rates and lactate values did not differ significantly between XLHED and control groups. Application of skin cooling devices led to a clinically relevant attenuation of exertional hyperthermia in XLHED patients, and a previous tendency toward lower performance disappeared. This first systematic study of the effects of physical exercise on HED patients demonstrates a rapid and lasting body temperature increase in XLHED subjects after cycling, posing them at risk of exercise-induced hyperthermia. External evaporative skin cooling attenuates exertional overheating in HED patients and may facilitate their participation in athletic activities and professional life.

Oral Diseases (2010) 16, 292–298 Objective: The aim of this study was to provide a quantification of taurodontism in Hypohidrotic Ectodermal Dysplasia (HED) and to report its occurrence in a cohort of HED patients to assess phenotypic–genotypic correlations. Patients and methods: Of 68 HED patients retrospectively reviewed, 16 patients aged 7–51 years were selected and compared with a control sample (n = 351). The pulp surface index of the first lower permanent molar was calculated from the panoramic radiograph of each individual, and statistical comparisons between the HED patients and the control sample were performed. Results: Whatever the genetic disorder, 81.25% of the HED patients exhibited a relative enlargement (≥1 s.d.) of the pulp. Major deviations (>5 s.d.) were respectively related to men affected by large deletion of the EDA gene or missense mutation. The autosomal recessive form was linked to a relative moderate pulp enlargement (3.44 s.d.). In NEMO forms, the increase of pulp size in men appeared to be less marked than in EDA mutations. Conclusion: This study provides for the first time an objective assessment of pulp enlargement in HED patients, and the various degrees of taurodontism depicted could be interesting dental phenotypic markers of HED forms.

Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes. The aim of this study was first to investigate the genotype and dental phenotype associated with HED and second, to explore possible correlations between dental features and molecular defects. A total of 27 patients from 24 unrelated families exhibiting clinical signs of HED (22 XLHED males, 5 autosomal recessive forms) were retrospectively included. In the sample, 25 different mutations on EDA and EDAR genes were detected; 10 were not previously described. EDA and EDAR mutations corresponded respectively to 80.0% and 20.0% of the mutations. The dental phenotype analysis revealed a mean number of primary and permanent missing teeth ranging respectively from 14.5 (4-20) to 22.5 (10-28); the majority of the patients exhibited dysmorphic teeth. Overall, no differential expression in the degree of oligodontia according to either the mutated gene, the mutated functional sub-domains, or the mutation type, could be observed. Nevertheless, the furin group exhibited severe phenotypes unobserved in the TNF group. Significant differences in the number of some primary missing teeth (incisor and canine) related to EDA-EDAR genes defects were detected for the first time between XLHED and autosomal recessive HED, suggesting differential local effects of EDA-EDAR genes during odontogenesis. The present genotypic-phenotypic findings may add to the knowledge of the consequences of the molecular dysfunction of EDA-NF-kB in odontogenesis, and could be helpful in genetic counseling to distinguish autosomal forms from other HED syndromes.

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to an amino acid change of arginine to cysteine in the extracellular domain of ectodysplasin-A, a protein encoded by the EDA gene. The phenotype of a severely affected 11-year-old boy with this mutation included heat intolerance, sparse hair (hypotrichosis), absence of 17 teeth (oligodontia), speech problems, and damaged eccrine glands, resulting in reduced sweating (anhidrosis). Both the mother (40 years old) and the sister (10 years old) were carriers with mild to moderate symptoms of this disease, while the father was healthy. This detailed description of the phenotype caused by this missense mutation could be useful for prenatal diagnosis.

Purpose of review—The application of mutation analysis is becoming an integral part of the complete evaluation of patients with primary immunodeficiencies, and as such, clinicians caring for these patients must develop a better understanding of the utility and challenges of this important laboratory technology. Recent findings—Genomic DNA sequencing is currently the standard approach used to characterize a possible gene mutation causing a specific primary immunodeficiency. There are clinical situations in which this approach is revealing of a genetic defect and other circumstances in which this generates a false-positive or false-negative result. One case study is presented that reviews a straightforward analysis that clarifies the genetic basis of a primary immunodeficiency, and four cases are presented that required additional studies to clarify the underlying basis of the immunodeficiency. In the latter circumstances, the rationale for additional studies is outlined and the outcome of these is presented. Summary—The identification of a gene mutation as the underlying basis of a primary immunodeficiency begins with the evaluation of the clinical presentation focusing on the infection history so as to develop a differential diagnosis including potential genetic causes. The next step is to obtain specific laboratory studies, including immunologic function evaluation, and, based on these findings, to proceed with DNA sequencing of one or several selected candidate genes. Genomic DNA sequencing has certain limitations, and alternative follow-up approaches may be necessary to establish the molecular basis of the primary immunodeficiency in a given patient.

X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is a rare congenital disorder that results in the defective development of teeth, hair, nails, and eccrine sweat glands. Previous studies found that mutations in the ectodysplasin A (EDA) gene are associated with XLHED. In the present study, we investigated four Chinese families suffering from classical XLHED and investigated two additional families segregating hypodontia in an X-linked recessive manner. Mutations were characterized respectively in the EDA gene in all families, and five of these mutations were found to be novel. Among these mutations, five were missense (c.200A>T, c.463C>T, c.758T>C, c.926T>G, and c.491A>C) and located in the functional domain of EDA, and one was a splice donor site mutation in intron 5 (c.IVS5 + 1G>A), which may result in an alternative transcript derived from a new cryptic splice site. Our data further confirm that EDA mutations could cause both XLHED and isolated hypodontia and provide evidence that EDA is a strong candidate gene for tooth genesis.

Structured Abstract Authors – Lexner MO, Bardow A, Bjorn-Jorgensen J, Hertz JM, Almer L, Kreiborg S. Objective – To describe the somatic development and craniofacial morphology in males affected with hypohidrotic ectodermal dysplasia (HED) and female carriers and to find clinical markers for early clinical diagnosis of possible female carriers. Design – A clinical and radiographic examination of the affected males and the female carriers. Setting and sample population – Twenty-four affected males and 43 female carriers with a known mutation in the ED1 gene were examined in a dental clinic in either Copenhagen or Aarhus, Denmark. Experimental variables – Height, body mass index (BMI) and head circumference. Cephalometric analysis of the craniofacial morphology. Outcome measure – Data on the somatic and craniofacial development in the affected males and female carriers. Results – No difference was observed regarding body height in the affected males and female carriers, BMI values were lower than the mean in most affected boys and adolescence and head circumference was somewhat decreased in both groups compared to normative data. The cephalometric analysis showed a reduced maxilla length and prognathism, a normal size and shape of the mandible and a reduced sagittal jaw relationship in both HED groups. Furthermore, affected males had a retroclined nasal bone and a more anteriorly inclined maxilla. A short nose, protruding lips, reduced facial convexity and facial height, characterized the soft tissue profile of the affected males. In female carriers, the lips were significantly retruded when compared with controls. Conclusion – No specific somatic or cephalometric markers could be observed, in the female carrier group.

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.1133CT; p.T378M in EDA gene.

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.

Hypohidrotic ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. The condition is usually transmitted as an x-linked recessive trait, in which gene is carried by the females and manifested in males. Manifestations of the disease differ in severity and involve teeth, skin, hair, nails and sweat and sebaceous gland. Ectodermal dysplasia is usually a difficult condition to manage. Prosthodontically, because of the typical oral deficiencies, and afflicted individuals are quite young to receive extensive prosthodontic treatment, which restores their appearance and helps them, for the development of positive self-image. This case report describes the management of upper jaw with over denture with copings on existing teeth i.e. two permanent peg shaped centrals as well as lateral incisors. However with adequate of retainer lower denture was provided with a new treatment modality.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical characteristics include meibomian gland disorder and the resulting hyperevaporative dry eye. In this study, we evaluated meibography and ocular infrared thermography as novel methods to diagnose XLHED.Eight infants, 12 boys and 14 male adults with XLHED and 12 healthy control subjects were subjected to a panel of tests including the ocular surface disease index (OSDI), meibography and infrared thermography, non-invasive measurement of tear film break-up time (NIBUT) and osmolarity, Schirmer's test, lissamine green staining and fluorescein staining. Sensitivity and specificity were determined for single tests and selected test combinations.Meibography had 100% sensitivity and specificity for identifying XLHED. Infrared thermography, a completely non-invasive procedure, revealed a typical pattern for male subjects with XLHED. It was, however, less sensitive (86% for adults and 67% for children) than meibography or a combination of established routine tests. In adults, OSDI and NIBUT were the best single routine tests (sensitivity of 86% and 71%, respectively), whereas increased tear osmolarity appeared as a rather unspecific ophthalmic symptom. In children, NIBUT was the most convincing routine test (sensitivity of 91%).Meibography is the most reliable ophthalmic examination to establish a clinical diagnosis in individuals with suspected hypohidrotic ectodermal dysplasia, even before genetic test results are available. Tear film tests and ocular surface staining are less sensitive in children, but very helpful for estimating the severity of ocular surface disease in individuals with known XLHED.

BACKGROUND: Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function. METHODS: Individuals in three families living in Sweden, where some members had a known c.1072C > T mutation in the EDAR gene with an autosomal dominant inheritance (AD), were included in a clinical investigation on oral signs and symptoms and self-reported symptoms from other ectodermal structures (n = 37). Confirmation of the c.1072C > T mutation in the EDAR gene were performed by genomic sequencing. Orofacial function was evaluated with NOT-S. RESULTS: The mutation was identified in 17 of 37 family members. The mean number of missing teeth due to agenesis was 10.3 ± 4.1, (range 4-17) in the mutation group and 0.1 ± 0.3, (range 0-1) in the non-mutation group (p T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences. They therefore have a need for special attention in dental care, both with reference to tooth agenesis and low salivary secretion with an increased risk for caries. Sweating problems were the most frequently reported symptom from other ectodermal structures.

Ectodermal dysplasia (ED) refers to a group of inherited diseases that have developmental defects in at least two major structures derived from the ectoderm, that is, hair, teeth, nails and sweat glands. Although more than 192 distinct disorders have been described, the most common is X-linked recessive hypohidrotic ED (Christ-Siemens-Touraine syndrome). Since such patients usually presents with missing teeth, dentists are usually the first person to diagnose such cases. Diagnosis of such cases is important because absence of sweat glands can lead to hyperthermia which can be life-threatening if proper care is not taken. Through this manuscript, we report a case of anhidrotic ED affecting deciduous and permanent dentition, which is rare.

Ectodermal dysplasia (ED) is a rare congenital disease that affects several ectodermal structures. Children with ED may have various manifestations of the disease that differ in severity. In addition to its other symptoms, ED causes anadontia and hypodontia of the primary or permanent teeth, impacted teeth, malformed and widely spaced peg-shaped teeth, and underdeveloped alveolar ridges. Since the oral rehabilitation of these cases is often difficult, particularly in pediatric patients, treatment should be provided by a multidisciplinary team. Dental implants are the treatment of choice when growth has stabilized, and implants can be used to support, retain, and stabilize the prosthesis. The purpose of this paper was to present a case report of implant placement in a 7-year-old girl with hypohidrotic ectodermal dysplasia and review the current literature to discuss the use of dental implants in such patients.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the ectodermal dysplasias characterized by an abnormal development of eccrine sweat glands, hair and teeth. Pathogenic mutations in the ED1 gene have been identified. In this family, a 22-bp deletion mutation of exon 8 in the ED1 gene was found in the affected members but not in the healthy individuals and 100 unrelated controls. We add new variant to the knowledge of ED1 mutations in XLHED.

Anhidrotic ectodermal dysplasia (AED), or Christ-Siemens-Touraine syndrome, was first described in 1848 by Thurnam.1 It is characterized by a partial or complete absence of sweat glands, hypotrichosis and hypodontia.The mode of inheritance is predominantly X-linked but an autosomal recessive pattern has also been observed.2 Palmoplantar keratoderma is classically a component of hidrotic ectodermal dysplasia; 3 however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.

To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.A c.467GA mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.A c.467GA mutation of the EDA gene probably underlies the disease in the family.

An 11-year-old patient with a history of oligodontia and hypohidrotic ectodermal dysplasia had implants placed in the anterior and posterior mandible as part of his prosthetic rehabilitation. The maxilla was restored by using traditional prosthodontic methods. The long-term follow-up of the treatment is presented, and the clinical implications of placing implants in an actively growing child are discussed.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterised by hypohidrosis, sparse hair, and teeth abnormalities. Infants with XLHED have an increased risk of death by hyperpyrexia. XLHED is the most common form of hypohidrotic ectodermal dysplasia (HED); however, no population-based prevalence estimates are available. We aimed to: 1) estimate the prevalence of XLHED in the Danish population per January 1, 2011; 2) identify the most frequent age at time of diagnosis; and 3) quantify the most frequent clinical feature associated with XLHED. Materials and methods We conducted a nationwide cross-sectional study (1995–2010). We leveraged national medical registries and data from clinical departments to categorise XLHED cases into three groups: 1) Molecularly - confirmed XLHED; 2) Clinically - diagnosed HED (registered with ICD-10 Q 82.4); and 3) Possible HED (registered with sufficient clinical features based on a clinical algorithm that we designed). Results We identified 90 molecularly-confirmed XLHED, 146 clinically-diagnosed HED, and 988 possible HED cases between 1995 and 2010 (total n = 1224). The prevalence was 21.9 per 100,000 overall and 1.6 per 100,000 when restricting to molecularly-confirmed XLHED cases. The most frequent age at time of XLHED diagnosis occurred between the ages of 11 and 18 years. Teeth abnormalities occurred in 79% of all cases and 52% of molecularly-confirmed cases as a primary clinical marker. Conclusion We present the first ever population-based prevalence estimates of XLHED and suggest that the prevalence of XLHED may be higher than previously estimated. Diagnosis occurs most frequently during adolescence and teeth abnormalities were the most frequent clinical marker of XLHED.

Christ–Siemens–Touraine syndrome also known as anhidrotic ectodermal dysplasia. Ectodermal dysplasia is a hereditary disorder characterised by developmental dystrophies of ectodermal derivatives. It is characterised by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. The case of three children with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral and physical features were taken into consideration in diagnosis and different treatment modalities for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.