SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.
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.
We present a casual review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.
Four members in three generations of a family had Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome with variable involvement of teeth, hair, nails and palate, characteristic facies and mild heat tolerance problems. In addition, the proband had a high sweat sodium, hypogenitalism, hypothelia and marked cicatricial scalp atrophy and scarring. Inheritance of the condition was consistent with an autosomal dominant mode and the manifestations are described to delineate further this rare phenotype.
EEM syndrome is a rare condition characterised by ectodermal dysplasia, ectrodactyly and macular dystrophy. Additional abnormalities such as alopecia, cataract, absent eyebrows, and oligodontia may occur. We report two brothers and a sister born to consanguineous parents with EEM syndrome. EEM syndrome differs from other ectrodactly syndromes by the characteristic findings in the ocular fundus showing extensive retinochoroidal atrophy with diffuse retinal pigmentation and mild arteriolar attenuation at the posterior pole. In contrast to other ectrodactyly syndromes autosomal recessive inheritance is most likely.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
OBJECTIVE: To describe a rare syndrome affecting children, and to urge pediatricians to consider this diagnosis when investigating idiopathic fever in neonates. METHODS: We report a case of anhidrotic ectodermal dysplasia syndrome in a 10 day old newborn in the neonatal intensive care unit at Hospital Geral de Caxias do Sul. The child presented recurrent episodes of fever since the first days of life. RESULTS: The patient presented dry mucus, dry skin, and fever. Skin biopsy was performed in the childacute;s back. Absence of sweat and sebaceous glands as well as hypoplasia of follicular structures were identified. The patient is receiving adequate treatment, and is being followed as an outpatient. CONCLUSION: Anhidrotic ectodermal dysplasia syndrome is a rare disorder that must be considered when investigating newborns with recurrent episodes of fever. During the neonatal period, the clinical manifestations of the disease are subtle and unspecific. Such findings become more visible after a few months of life. There is no definitive treatment for this syndrome.
The authors describe early prosthetic treatment in a case of hypohidrotic ectodermal dysplasia with complete anodontia. Craniofacial changes were analyzed by means of Ricketts' cephalometric analysis and superimposition methods. Early prosthetic treatment for complete anodontia determined a backward-downward rotation of the mandible with consequent normal positioning of the chin in the space, normalization in lower facial height, reduction in convexity of the face, and improvement in facial esthetics. Superimposition methods demonstrated that the direction of growth of both the maxilla and the mandible was progressing favorably. Improvements in esthetics and in the function of masticatory and perioral muscles, together with their positive psychological impact, were also discussed.
Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we provide compelling evidence that KID is caused by heterozygous missense mutations in the connexin-26 gene, GJB2. In each of 10 patients with KID, we identified a point mutation leading to substitution of conserved residues in the cytoplasmic amino terminus or first extracellular domain of Cx26. One of these mutations was detected in six unrelated sporadic case subjects and also segregated in one family with vertical transmission of KID. These results indicate the presence of a common, recurrent mutation and establish its autosomal dominant nature. Cx26 and the closely related Cx30 showed differential expression in epidermal, adnexal, and corneal epithelia but were not significantly altered in lesional skin. However, mutant Cx26 was incapable of inducing intercellular coupling in vitro, which indicates its functional impairment. Our data reveal striking genotype-phenotype correlations and demonstrate that dominant GJB2 mutations can disturb the gap junction system of one or several ectodermal epithelia, thereby producing multiple phenotypes: nonsyndromic SNHL, syndromic SNHL with palmoplantar keratoderma, and KID. Decreased host defense and increased carcinogenic potential in KID illustrate that gap junction communication plays not only a crucial role in epithelial homeostasis and differentiation but also in immune response and epidermal carcinogenesis.
Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant disorder characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. Recently, linkage of a Clouston syndrome locus to chromosome 13q11-q12.1 was reported in eight families of French-Canadian descent. We have confirmed linkage to this region in four additional families: two of French-Canadian descent, one of Scottish-Irish descent, and one French family. Multipoint linkage analysis gave a lod score of 5.09 at marker D13S175. The two families of French-Canadian descent share haplotypes with those reported by Kibar et al (1996), indicating a common founder. The French and Scottish-Irish families do not demonstrate the common haplotype, indicating that the mutations in these populations are most likely of different origin.
A four generation Scottish family with hidrotic ectodermal dysplasia affecting predominantly teeth, skin and hair is described. Hypo- or oligodontia of the secondary dentition by late adolescence was characteristic and two individuals had multiple natal teeth. Flexural acanthosis nigricans during childhood and early adolescence is a feature in some of the women. All affected individuals produced sweat, but heat tolerance was variable. Hypoplasia of the pilosebaceous units was found on light microscopy in one subject. Scalp hair was thin and slow growing (but adult females described much improved quality during pregnancy) and body hair was scanty. Scanning electron microscopy of hair samples showed abnormal cuticular appearances consistent with a primary defect affecting keratin structure. The nails were normal. Relative macrocephaly due to hyperostosis of the cranial vault was variably present. Short stature (5-10th centile) present in some cases is possibly a separate familial trait. The family demonstrates overlapping features with Clouston syndrome. In Clouston syndrome, however, alopecia can be severe, palmarplantar hyperkeratosis is usually present, and hypo/oligodontia is not a prominent feature.
UNLABELLED: To evaluate dental implant survival in patients with ectodermal dysplasia (ED). To assess patterns of hypodontia in this patient group. METHOD: . A retrospective analysis of the use of dental implants in ED patients treated at the Royal Children's Hospital, Melbourne. RESULTS: Sixty-one implants were placed into 14 patients (nine male and five female). The mean age of patients receiving maxillary implants was 18 years 6 months (range 17 years 9 months-20 years 0 months) and mandibular implants was 17 years 5 months (range 12 years 2 months-21 years 11 months). The mean follow-up period was 3 years 4 months (range 1 year 18 months-5 years 1 month). Forty-three implants were placed in the anterior mandible, three in the posterior mandible and the remaining 15 in the anterior maxilla. Of the 61 implants placed, 54 [88.5%] successfully integrated and were able to be restored. Three of the 15 implants placed into the anterior maxilla [20%] failed, while four of the 46 in the anterior mandible failed [8.7%]. Five of the 14 patients [35.7%] had at least one implant fail prior to abutment connection. At the 12-month review appointments, 41 of the integrated 54 implants [76%] were reviewed and classed as successful, giving an overall success at follow up of 67.2%. Thirteen implants [21.3%] were unable to be reviewed owing to geographical reasons. Teeth most likely to be present in the maxilla were the central incisors [71%], first molars [54%] and canines [43%], whereas in the mandible they were the canines [53%] and the first premolars and first molars [40%]. CONCLUSIONS: Dental implants can be placed, restored and loaded in ED patients. Maxillary teeth most likely to be present are the central incisors, canines and first molars, whereas in the mandible the canines, first premolars and molars are most likely to be present. Prior to cessation of growth, implant placement in the symphyseal region of the anterior mandible may be performed with caution. Despite the limited numbers and with due consideration to jaw development, the results support the continual use of endosseous dental implants in this group of patients for optimal clinical outcomes.
X-linked hypohidrotic ectodermal dysplasia (H.E.D.) is a disorder of abnormal morphogenesis of ectodermal structures and is of unknown pathogenesis. Neither relatively accurate carrier detection nor prenatal diagnosis has been available. Previous localization of the disorder by linkage analysis utilizing restriction-fragment polymorphisms, by our group and others, has placed the disorder in the general pericentromeric region. We have extended our previous study by analyzing 36 families by means of 10 DNA probes at nine marker loci and have localized the disorder to the region Xq11-Xq21.1, probably Xq12-Xq13. Three loci--DXS159 (theta = .01, z = 14.84), PGK1 (theta = .02, z = 13.44), and DXS72 (theta = .02, z = 11.38)--show very close linkage to the disorder, while five other pericentromeric loci (DXS146, DXS14, DXYS1, DXYS2, and DXS3) display significant but looser linkage. Analysis of the linkage data yields no significant evidence for nonallelic heterogeneity for the X-linked form of the disorder. Both multipoint analysis and examination of multiply informative meioses with known phase establish that the locus for H.E.D. is flanked on one side by the proximal long arm loci DXYS1, DXYS2, and DXS3 and on the other side by the short arm loci DXS146 and DXS14. Multipoint mapping could not resolve the order of H.E.D. and the three tightly linked loci. This order can be inferred from published data on physical mapping of marker loci in the pericentromeric region, which have utilized somatic cell hybrid lines established from a female with severe manifestations of H.E.D., and an X/9 translocation (breakpoint Xq13.1). If one assumes that the breakpoint of the translocation is within the locus for H.E.D. and that there has not been a rearrangement in the hybrid line, then DXS159 would be proximal to the disorder and PGK1 and DXS72 would be distal to the disorder. Both accurate carrier detection and prenatal diagnosis are now feasible in a majority of families at risk for the disorder.
We report on a 23-year-old man with hidrotic ectodermal dysplasia of the Clouston type showing a severe expression of his gene defect. As a prominent feature of this case, we describe the presence of verruciform keratoderma of hands and feet, and we visualize these skin changes by means of a new imprinting technique.
The patient in this report is a young boy with hypohydrotic ectodermal dysplasia. His case is exceptional in that anodontia was complete in both deciduous and permanent dentitions. A brief review of this condition is presented along with the prosthetic management of the case which emphasizes the need for regular modification and replacement of dentures worn by growing child.
A female infant with ectodermal dysplasia, bilateral cleft lip and palate and a recalcitrant scalp dermatitis is presented. She had features of both Rapp-Hodgkin syndrome and AEC syndrome. It has recently been suggested in the literature that these two syndrome are the same condition and this case report supports this viewpoint.