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PubMed2006

Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.

The ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant dysplasia syndrome, whose pleiotropic effects involve mainly ectodermal structures. The most common clinical manifestations are ectodermal dysplasia, ectrodactyly , cleft lip/palate, and tear-duct anomalies. Very rarely the ectrodactyly may be absent, and skeletal abnormalities may be subtle. We present a 44-month-old girl who had features of EEC syndrome but without the classic ectrodactyly.

Abnormalities, Multiple↗

PubMed2001

Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a heritable disorder of the ED-1 gene disrupting the morphogenesis of ectodermal structures. The ED-1 gene product, ectodysplasin-A (EDA), is a tumor necrosis factor (TNF) family member and is synthesized as a membrane-anchored precursor protein with the TNF core motif located in the C-terminal domain. The stalk region of EDA contains the sequence -Arg-Val-Arg-Arg156-Asn-Lys-Arg159-, representing overlapping consensus cleavage sites (Arg-X-Lys/Arg-Arg( downward arrow)) for the proprotein convertase furin. Missense mutations in four of the five basic residues within this sequence account for approximately 20% of all known XLHED cases, with mutations occurring most frequently at Arg156, which is shared by the two consensus furin sites. These analyses suggest that cleavage at the furin site(s) in the stalk region is required for the EDA-mediated cell-to-cell signaling that regulates the morphogenesis of ectodermal appendages. Here we show that the 50-kDa EDA parent molecule is cleaved at -Arg156Asn-Lys-Arg(159 downward arrow)- to release the soluble C-terminal fragment containing the TNF core domain. This cleavage appears to be catalyzed by furin, as release of the TNF domain was blocked either by expression of the furin inhibitor alpha1-PDX or by expression of EDA in furin-deficient LoVo cells. These results demonstrate that mutation of a functional furin cleavage site in a developmental signaling molecule is a basis for human disease (XLHED) and raise the possibility that furin cleavage may regulate the ability of EDA to act as a juxtacrine or paracrine factor.

Amino Acid Sequence↗

PubMed1981

Abnormal laryngeal vocal quality in ectodermal dysplasia.

Breathy vocal quality was verified in five of nine patients with the ectrodactyly--ectodermal dysplasia--cleft palate syndrome, nine of 15 patients with either suspected or confirmed anhidrotic ectodermal dysplasia (one case of partial expression), and one of two siblings with the Rapp-Hodgkin form of ectodermal dysplasia. Indirect laryngoscopy in eight of the breathy patients failed to show phonatory glottal chinks or any overt laryngeal pathologic conditions, but it did indicate absence of a normal mucosal covering of the folds. Limited spectrographic studies disclosed widely spaced voicing striations and also suggested prolonged voice onset times. Patients who exhibit breathy vocal quality in the presence of one of these ectodermal dysplasias should be counseled with regard to the advisability of longitudinal care and the avoidance of habitual use of increased vocal effort level.

Child↗

PubMed2005

A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1.

Ectodermal dysplasia (ED) represents a heterogeneous group of genetic disorders characterized by the absence or deformity in two or more of the ectodermal appendages. We have studied an autosomal recessive form of ED in 13 individuals over six generations from an inbred Pakistani family. The clinical features of the affected individuals include highly dystrophic nails and thin hair on scalp, fine eyebrows and eyelashes, and thin body hair. Genome-wide linkage analysis of 390 microsatellite markers mapped the ED gene to the 3.92 cM interval flanked by markers D10S1710 and D10S1741 on chromosome 10q24.32-q25.1. Multipoint linkage analysis generated a maximum logarithm of odds ratio score of 4.79 in the interval D10S1239-D10S1264, which corresponds to 6.35 Mb.

Chromosomes, Human, Pair 10↗

PubMed1975

[Hidrotic ectodermal dysplasia].

This paper reports a family with typical features of hidrotic ectodermal dysplasia (h.e.d.). Although some members of the family showed phenotypical similarities to anhidrotic ectodermal dysplasia, there is no doubt about the classification of this disorder into hidrotic ectodermal dysplasia because of its manifest symptomatology (hypo- and dystrichosis deformity of nails, autosomal-dominant heredity, normal sweating). This suggests that the phenotypical similarities are obvious and important findings of h.e.d.

Adolescent↗

PubMed2002

Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor.

X-linked ectodermal dysplasia receptor (XEDAR) is a recently isolated member of the tumor necrosis factor receptor family that has been shown to be highly expressed in ectodermal derivatives during embryonic development and binds to ectodysplasin-A2 (EDA-A2). By using a subclone of 293F cells with stable expression of XEDAR, we report that XEDAR activates the NF-kappaB and JNK pathways in an EDA-A2-dependent fashion. Treatment with EDA-A2 leads to the recruitment of TRAF3 and -6 to the aggregated XEDAR complex, suggesting a central role of these adaptors in the proximal aspect of XEDAR signaling. Whereas TRAF3 and -6, IKK1/IKKalpha, IKK2/IKKbeta, and NEMO/IKKgamma are involved in XEDAR-induced NF-kappaB activation, XEDAR-induced JNK activation seems to be mediated via a pathway dependent on TRAF3, TRAF6, and ASK1. Deletion and point mutagenesis studies delineate two distinct regions in the cytoplasmic domain of XEDAR, which are involved in binding to TRAF3 and -6, respectively, and play a major role in the activation of the NF-kappaB and JNK pathways. Taken together, our results establish a major role of TRAF3 and -6 in XEDAR signaling and in the process of ectodermal differentiation.

Amino Acid Sequence↗

PubMed2006

Soft tissue facial angles in individuals with ectodermal dysplasia: A three-dimensional noninvasive study.

OBJECTIVE: To supply quantitative information about the facial soft tissues of patients with hypohidrotic ectodermal dysplasia. DESIGN: Prospective assessment. SETTING: National meetings of hypohidrotic ectodermal dysplasia patients and families. PATIENTS AND MAIN OUTCOME MEASURES: Facial and mandibular corpus convexities in the horizontal plane; facial convexity in the sagittal plane; interlabial, naso-labial, nasal convexity, and left and right soft tissue gonial angles were calculated from the three-dimensional coordinates of 11 soft tissue facial landmarks obtained in 18 male and 17 female hypohidrotic ectodermal dysplasia patients aged 3 to 41 years and in 504 reference healthy individuals. In addition, z-scores were computed and the patients were grouped by cluster analysis. RESULTS: Male and female z-scores did not differ. In the pooled group, facial convexities in the horizontal and sagittal planes were significantly (Student's t, p < .01) increased (flatter) in hypohidrotic ectodermal dysplasia patients, compared with normal controls. The naso-labial angle was significantly reduced (more acute). Upper and lower facial convexity and mandibular corpus convexity in the horizontal plane deviated less from the norm with increasing age. Facial convexity in the horizontal and sagittal planes, soft tissue gonial angles, and naso-labial and interlabial angles deviated less from the norm with increasing number of teeth present in the mouth. Cluster analysis identified three homogeneous groups, all characterized by a peculiar facial phenotype. Modifications in facial convexity and gonial and interlabial angles differentiated each cluster. CONCLUSIONS: Patients with hypohidrotic ectodermal dysplasia had flatter faces in the horizontal and sagittal planes than normal controls had. Cluster analysis revealed patterned differences in facial phenotype.

Adolescent↗

PubMed1981

A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias.

An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for different diagnosis.

Abnormalities, Multiple↗

PubMed1990

Rapp-Hodgkin ectodermal dysplasia.

A rare case of ectodermal dysplasia--the Rapp-Hodgkin syndrome--is presented. Its diagnosis is discussed and the importance of a multidisciplinary management and genetic counselling outlined.

Child, Preschool↗

PubMed2000

[Anesthetic management of a patient with hypohidrotic ectodermal dysplasia].

We anesthetized a 10-year-old girl with hypohidrotic ectodermal dysplasia for an ophthalmic surgery. Ectodermal dysplasia involves the abnormalities of ectodermal tissues and has a triad; hypohidrosis, a lack of teeth, and the scarcity of hair. Hyperthermia may occur due to the defect of sweat glands. Therefore, the body temperature must be monitored continuously. Respiratory tract infection occurs frequently due to the absence of seromucosal glands. We recommend humidifying the inspired gases during the operation. Tracheal intubation may be difficult because of maxillary and/or mandibular abnormalities. We conclude that the particular care should be taken such as the management of the body temperature, preparation for the difficult airway and the humidification of respiratory tract.

Anesthesia, General↗

PubMed1980

Anhidrotic ectodermal dysplasia.

A diagnosis of anhidrotic ectodermal dysplasia should be considered for patients with an undeveloped breast or other deformities. Recognition of the syndrome can lead to necessary and helpful genetic counseling and will ensure that other members of the family, who may also be affected by the syndrome, are under proper care.

Breast↗

PubMed2005

Ectodermal dysplasia--an unusual dental presentation.

Ectodermal dysplasia (ED) is a rare group of disorders affecting the hair, teeth, nails and sweat glands to a variable degree. There is a wide range of clinical presentation of ED. Missing teeth or abnormal tooth form may be the first indicator of the presence of the disorder. There is typically hypodontia with microdontia. We present an unusual case of ED with severe hypodontia and macrodontia affecting all first permanent molar teeth. We also consider the classification and presentation of this disorder.

Anodontia↗

PubMed2003

Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is characterized by sparse hair, abnormal teeth and decreased sweating as a result of abnormal development of the sweat glands. Mutations in the ED1 gene, which encodes ectodysplasin-A (EDA), are responsible for XLHED. Ectodysplasin-A, a ligand for the EDA receptor, plays an important role in epidermal morphogenesis. We identified ED1 mutations including three novel mutations by sequencing genomic DNAs from eight unrelated Japanese XLHED families. Data from all reported mutations revealed that codon 156 in the furin subdomain is the most frequent site of change in EDA.

Base Sequence↗

PubMed2003

A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia (XLHED; MIM 305100) is characterized by the absence or hypoplasia of hair, teeth, and sweat glands. The ED1 gene was identified as a responsive gene for XLHED. The patients were 2 Japanese brothers. Both had the same mutation in exon 1 of the ED1 gene, i.e. C deletion at nucleotide 49, which induced a frameshift starting from amino acid 17 and made a stop codon at amino acid 56, encoding the transmembrane site. The mutation caused the extracellular domain of ectodysplasin A to be completely absent. Their mother had a heterozygous allele; she congenitally lacked 1 tooth, and incisors appeared conical in form.

Child, Preschool↗

PubMed1999

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis of teeth, hair and eccrine sweat glands. The gene (ED1) responsible for the disorder has been identified, as well as the analogous X-linked gene (Ta) in the mouse. Autosomal recessive disorders, phenotypically indistinguishable from the X-linked forms, exist in humans and at two separate loci (crinkled, cr, and downless, dl) in mice. Dominant disorders, possibly allelic to the recessive loci, are seen in both species (ED3, Dlslk). A candidate gene has recently been identified at the dl locus that is mutated in both dl and Dlslk mutant alleles. We isolated and characterized its human DL homologue, and identified mutations in three families displaying recessive inheritance and two with dominant inheritance. The disorder does not map to the candidate gene locus in all autosomal recessive families, implying the existence of at least one additional human locus. The putative protein is predicted to have a single transmembrane domain, and shows similarity to two separate domains of the tumour necrosis factor receptor (TNFR) family.

Alleles↗

PubMed1985

[Results and effects of child psychiatric rehabilitation in polymorphic ectodermal dysplasia syndrome].

Since 1929 when ectodermal dysplasia was first mentioned in the literature the syndrome has been described in many case studies and genealogical reports. It has also been the subject of numerous review articles. The present article gives an account of an 8-year old boy who had long been treated under the supposition that he was severely mentally retarded. While he was an inpatient at a psychiatric facility for children and adolescents it became apparent that he had many abilities that had previously gone unnoticed, and it was felt that an intensive treatment program might possibly even lead to full rehabilitation. Upon discharge 3 months later the medical, psychological and social effects of the program were still difficult to pinpoint, but a new phase of development had clearly begun. In the reassessment of this child a totally different type of personality came to light. Because of his outward appearance the boy had till then apparently been regarded as being both somatically and mentally handicapped. The new diagnosis of a primarily somatic disability and a high level of intelligence therefore opened the door to a new developmental process.

Child↗

PubMedDate not supplied

Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo.

Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is transmitted by an X-linked recessive gene or rarely an autosomal recessive gene. Therefore it is only males who fully express the condition. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Typically there is frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmentation, and absence of teeth. Those affected show great intolerance to heat. In the current absence of effective treatment for many hereditary skin diseases, comprehensive, accurate prenatal or postnatal genetic counseling can provide information to parents at risk of having affected children. We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. Both parents and a 16-week gestational age fetus were healthy. We thought direct sequencing analysis for the ED1 gene using peripheral blood or amniotic fluid was preferable for an accurate diagnosis of this disease, although there was some risk of not detecting the mutation. After the results of this study were communicated to the parents, the mother was freed of her guilty feelings of the past 6 years and has now delivered a healthy male infant.

Adult↗

PubMed2005

Mutation identification in a canine model of X-linked ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia (XHED), an inherited disease recognized in humans, mice, and cattle, is characterized by hypotrichosis, a reduced number or absence of sweat glands, and missing or malformed teeth. In a subset of affected individuals and animals, mutations in the EDA gene (formerly EDI), coding for ectodysplasin, have been found to cause this phenotype. Ectodysplasin is a homotrimeric transmembrane protein with an extracellular TNF-like domain, which has been shown to be involved in the morphogenesis of hair follicles and tooth buds during fetal development. Some human XHED patients also have concurrent immunodeficiency, due to mutations in the NF-kappaB essential modulator protein (IKBKG; formerly NEMO), which is also encoded on the X chromosome. In a breeding colony of dogs with XHED, immune system defects had been suspected because of frequent pulmonary infections and unexpected deaths resulting from pneumonia. To determine if defects in EDA or IKBKG cause XHED in the dogs, linkage analysis and sequencing experiments were performed. A polymorphic marker near the canine EDA gene showed significant linkage to XHED. The canine EDA gene was sequenced and a nucleotide substitution (G to A) in the splice acceptor site of intron 8 was detected in affected dogs. In the presence of the A residue, a cryptic acceptor site within exon 9 is used, leading to a frame shift and use of a premature stop codon that truncates the translation of both isoforms, EDA-A1 and EDA-A2, resulting in the absence of the TNF-like homology domain, the receptor-binding site of ectodysplasin.

Animals↗