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At least 19 recordsLinked to original sources
PubMed2006

Multiple agenesis and anhidrotic ectodermal dysplasia: a comparative longitudinal study of dental similarities and genetic differences in two groups of children.

AIM: Dental anomalies in shape and number may be present isolated or associated with other manifestations. In anhidrotic ectodermal dysplasia they occur more frequently and severely. The authors examined a group of children with similar dental anomalies but no other ectodermal or extra-ectodermal signs. METHODS: This study makes a comparative evaluation of similarities and differences of dental anomalies between two groups: A anhidrotic ectodermal dysplasia and B similar dental finding but without extra- dental anomalies. RESULTS: In group A, the average number of agenesis in primary teeth was 3.5 (upper) and 5.33 (lower); in permanent teeth it was 5.4 and 5.8, respectively. In group B, the average was 1.62 (upper) and 0.25 (lower) in primary teeth, and 4.0 and 4.25 in permanent teeth respectively, with no constant pattern of occurrence. The study of tooth morphology of both groups revealed numerous anomalies in both dentitions. No differences were found in the average number of agenesis and morphological anomalies in the permanent teeth between both groups, but in the primary dentition group B presented a lower degree of incidence. CONCLUSION: The presence of almost normal primary dentition (regarding to number), but with morphological anomalies, should lead to suspect their exacerbation in the permanent dentition.

Anodontia↗
PubMed1983

[Anhidrotic ectodermal dysplasia (apropos of 3 families). Abnormal hair, a sign of heterozygosity?].

The authors report three cases of anidrotic ectodermal dysplasia with an X-linked form. Two cases are sporadic forms, followed up during ten years; the third case is a familial form followed-up through six generations. With their personal cases, the authors insist on the repercussions in the everyday life; they report the signs which must search for an heterozygosis among the females of this families: hypoidrosis, hypodontia, hair shaft abnormalities under polarized light, special look of the face of those females who are alike sometimes wonderfully.

Anodontia↗
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↗
PubMed1992

[Congenital anhidrotic ectodermal dysplasia in a female infant].

Fever of unknown origin, unability to sweat, hypotrichosis, absent eyebrows and thick everted lips were symptoms in a 3 month old female infant and raised the suspicion of anhidrotic ectodermal dysplasia. After several days of high fever and enteritis our patient presented with convulsions which could hardly be interrupted for a couple of days. Two months later brain scanning revealed serious brain damage. Finally the diagnosis of anhidrotic ectodermal dysplasia was confirmed by the unability to sweat by means of the quantitative pilocarpin iontophoresis test. Skin biopsy showed absence of the eccrine glands.

Biopsy↗
PubMed2001

Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle.

Anhidrotic ectodermal dysplasia (ED1) is characterized by hypotrichosis, reduced number of sweat glands, and incisior anodontia in human, mouse, and cattle. In affected humans and mice, mutations in the ED1 gene coding for ectodysplasin 1 are found. Ectodysplasin 1 is a novel trimeric transmembrane protein with an extracellular TNF-like signaling domain that is believed to be involved in the formation of hair follicles and tooth buds during fetal development. We report the construction of a 480-kb BAC contig harboring the complete bovine ED1 gene on BTA Xq22-Xq24. Physical mapping and sequence analysis of the coding parts of the ED1 gene revealed that a large genomic region including exon 3 of the ED1 gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.

Amino Acid Sequence↗
PubMed1977

[Ectodermal anhidrotic dysplasia (author's transl)].

The E. A. D. is a genodermatosis characterised by absence or important diminuation of sweat glands. The study of 3 children of different families allows us to identify the diagnostic elements: typical facial signs, anhidrosis, rarity of teeth "buds", abnormalities of dermatoglyphes. This diagnosis must be established early, to protect the newborn from accidents of overheating caused by perspiration insufficiency. The sweat glands are not affected alone: exocrine glands also, explaining the fragility of the upper respiratory tract in such patients. The teeth abnormalities are important and need replacement by false teeth, carefully done at an early date and continued later on. Genetic investigation is indispensable to discover women who carry the disease, with a high risk of transmission to their children.

Child, Preschool↗
PubMed1990

[A typical cases of X-linked anhidrotic ectodermal dysplasia and a diagnosis of carriers].

A typical case of X-linked anhidrotic ectodermal dysplasia (AED) aged 19 year-old-male was discussed in detail, and a diagnosis of carriers of AED with his elder sister aged 24 years just before her marriage and mother was carried out. It seemed that the presence of 6 items of manifestation were important for diagnosis of carriers of AED without any evident symptoms. These were (1) abnormal teeth, (2) dissociation of dermatoglyphics, (3) hypohidrosis, (4) anhidrotic patchy distribution, (5) the lines of Blaschko and (6) expansion of distance between sweat pores. His mother was able to be diagnosed as a carrier of AED by having all of the 6 items. It was confirmed that his sister was not a carrier of AED, since she had none of the 6 items and yet her probability of being a carrier of AED was 1.5625% due to Lyon's hypothesis.

Adult↗
PubMed1994

[Anhidrotic ectodermal dysplasia. Disorder of the differentiation of hair follicles and sweat glands leads to abnormal keratinization].

We report on an 11-year-old female patient with anhidrotic ectodermal dysplasia (AED) showing the following characteristics: (1) reduced number of hair follicles and incomplete formation of sweat glands; (2) disturbed hair growth with shortening of anagen and anhidrosis; (3) disturbed cytokeratin expression pattern of CK 13, 14, 19 (follicular epithelium) and of CK 18 (eccrine sweat glands); (4) reduction of cystine and increase in sulphonic cysteine acid. Thus, we demonstrated pathological differentiation on the immunomorphological and on the biochemical level, leading to disturbed keratinization that could be visualized by transmission and scanning electron microscopical studies of the hair shafts. According to these findings AED is a developmental defect that involves not only incomplete formation of hair follicles and sweat glands but also a disordered differentiation and follicular keratinization with disturbed cytokeratin pattern and pathological amino acid composition of the terminal hairs produced.

Antibodies, Monoclonal↗
PubMed2005

[Anhidrotic ectomermal dysplasia (AED): four cases].

INTRODUCTION: Anhidrotic ectodermal dysplasia (AED) or Christ-Siemens-Touraine syndrome is a rare, hereditary genodermatosis, classically X-linked recessive disorder. MATERIAL AND METHODS: [corrected] We report the cases of 3 children and a male adult. RESULTS: The mode of diagnosis, the clinical signs and the therapeutic option are detailed. DISCUSSION: AED is characterized by a malformative state derived from the ectodermal layer of the embryo which results in the triad: anhidrosis (or hypohidrosis), hypotrichosis, anodontia (or hypodontia). Hypohidrosis causes thermoregulation disorders, which in the infant, can be life threatening. It is important to recognize the affection early to avoid accidents of hyperthermia. Once the diagnosis is established, family investigations are necessary to determine whether it is a family form or a new sporadic case. Carrier mothers must be informed of the high risk recurrence for future male infants. Symptomatic maxillo-facial treatment strives to improve masticatory function and facial growth and thus limit the psychological impact and improve patient comfort.

Adult↗
PubMed2005

X-linked anhidrotic ectodermal dysplasia disruption yields a mouse model for ocular surface disease and resultant blindness.

X-linked anhidrotic/hypohidrotic ectodermal dysplasia (EDA) is caused by mutations in the (EDA) gene, which is required for the morphogenesis of ectoderm-derived tissues. Although EDA function in skin appendage development has been studied in Eda mutant "Tabby" mice, we have recently identified characteristic abnormalities in the ocular surface, an ectoderm-derived tissue. Histology of eyes of Tabby males revealed that 1) as previously reported, mice lacked meibomian glands; 2) >80% developed corneal lesions such as neovascularization, keratitis, ulceration, and keratinization identifiable from 9 weeks of age; and 3) > 80% showed ocular surface inflammation (blepharitis and conjunctivitis) when housed in a standard environment. Strikingly, both corneal defects and inflammation were prevented in Tabby mice bearing a transgene for the Eda-A1 isoform, but meibomian glands were restored little if at all. These findings suggest that intact ocular surface health is EDA dependent and that Tabby corneal abnormalities are not solely dependent on meibomian gland lipid secretion. Alternatively, susceptibility to inflammation and other phenotypes could result from failure of the usual EDA receptor to activate nuclear factor-kappaB transcription factors. This can be further tested in Tabby and Tabby-EDA transgenic mice, which provide unique models of severe ocular surface disease.

Animals↗
PubMed2001

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Mutations in ectodysplasin, the protein product of the EDA or ED1 gene, cause X-linked anhidrotic ectodermal dysplasia. From sixteen families we have identified thirteen mutations, of which nine were novel: a deletion of the entire exon 1, altered splicing site in intron 7 (IVS-2A-->G) and in intron 9 (IVS9+8 C-->G), deletion of 8 bp (1967-1974 nt), four missense mutations (G255C, G255D, W274G, C332Y) and nonsense mutation W274X. Previously identified and the novel mutations form four clusters: 1) at the junction of the transmembrane and extracellular domains, 2) at a putative protease recognition site, possibly affecting cleavage of ectodysplasin, 3) at the trimerizing collagen-like domain, and 4) at regions of high homology to tumor necrosis factor domains. Truncating and splice site mutations occur within the proximal two-thirds of the protein. Our data suggest the functional importance of specific ectodysplasin domains. Hum Mutat 17:349, 2001.

Alternative Splicing↗
PubMed2001

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.

Anhidrotic ectodermal dysplasia (EDA) is caused by mutations in the EDA gene encoding ectodysplasin A, a member of the TNF ligand superfamily involved in the communication between the cells. The structure of the EDA gene was investigated in three patients exhibiting clinical symptoms of EDA in an attempt to correlate the molecular findings with the phenotype of the patients. Genomic DNA was analyzed by single stranded conformation polymorphism (SSCP) followed by direct sequencing. In one of the patients, as well as in his heterozygous mother and sister, a single T insertion was evidenced in exon 3 between nucleotides 713 and 714 that changed Lys codon (AAA) into a termination codon TAA (Lys158Ter). In the other patient, A1321T transversion was demonstrated. The same mutation was found in his heterozygous mother and resulted in a change of Ileu360Asn that might generate an additional glycosylation site. In the third patient an A1285G transition was revealed. This mutation that originated de novo was localized in a region that is highly conserved in TNF ligand family and caused substitution of Ala349Thr. Localization of the mutations in the extracellular domain of ectodysplasin A suggested that the primary cause of EDA is a defect in communication between the cells responsible for the development of skin appendages. Despite a different character and localization of the mutations, no apparent correlation between phenotype and genotype of the patients was evidenced. Some differences in the patients' phenotype were observed.

Child↗