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Salinas C.F.,Medical University of South Carolina | Irvine A.D.,Our Ladys Childrens Hospital Crumlin | Itin P.H.,University of Basel | Di Giovanna J.J.,U.S. National Institutes of Health | And 3 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Ectodermal dysplasias (EDs) comprise a large clinically and etiologically heterogeneous group of genetic disorders characterized by abnormalities in tissues derived from the embryonic ectoderm. Controversy exists over which syndromes should be classified as EDs and which should be excluded from the classification. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health-care providers, and ultimately the individuals and families directly affected by EDs. The overarching goal of the Second International Conference was to develop a consensus on EDs classifications, with the ultimate goal of creating a system that integrates clinical and molecular knowledge, using an interactive Internet-based database that clinicians, researchers, and laymen can use. The Conference, brought together a group of experts from around the world, including a diverse health-care providers, researchers, patient advocate representatives, and administrators. The Conference was modeled after the 2008 conference, with plenary sessions, scientific updates, and small group discussions. Based on the present clinical knowledge, new molecular advances and both coupled with new bioinformatics developments, the participants agree to develop amultiaxis system approach for the classification of EDs. The multiaxis approach will include a clinical/phenotype axis, a genebased axis, and a functional/pathways axis. The significance of the conference outcomes includes, a new classification approach that will foster a better understanding of EDs, open new fields of research and develop a nosologic approach that may have broad implications for classifying other hereditary conditions. © 2014 Wiley Periodicals, Inc.


Jones K.B.,University of California at San Francisco | Goodwin A.F.,University of California at San Francisco | Landan M.,University of California at San Francisco | Seidel K.,University of California at San Francisco | And 10 more authors.
American Journal of Medical Genetics, Part A | Year: 2013

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 the assessment of future therapies in XL-HED. © 2013 Wiley Periodicals, Inc.


Motil K.J.,U.S. Department of Agriculture | Fete M.,University of Missouri | Fete T.J.,National Foundation for Ectodermal Dysplasias
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | Year: 2016

Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n=19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P<0.06) and weight (P<0.001) z-scores of the participants were lower than the reference population. The mean head circumference (P<0.001), height (length) (P<0.001), weight (P<0.01), and BMI (P<0.05) for age z-scores of the participants were lower than the reference population. The height-for-age and weight-for-age z-scores of the participants did not differ significantly between birth and current measurements. Three-fourths of the group reported having one or more nutritional or gastrointestinal problems including short stature (65%), underweight (77%), oral motor dysfunction (41%), gastroesophageal reflux (24%), gastroparesis (35%), and constipation (35%). These observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with FDH and underscore the importance of careful observation and early clinical intervention in the care of individuals affected with this disorder. © 2016 Wiley Periodicals, Inc.


Fete T.J.,University of Missouri | Fete M.,National Foundation for Ectodermal Dysplasias
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | Year: 2016

The International Research Symposium on Goltz Syndrome was held at Texas Children's Hospital on July 22 and 23, 2013. This unique research, educational, and family-oriented symposium was sponsored by the National Foundation for Ectodermal Dysplasias, Baylor College of Medicine and Texas Children's Hospital. Goltz syndrome, or Focal Dermal Hypoplasia (FDH), is a highly variable X-linked dominant disorder with abnormalities in tissues derived from the ectoderm and mesoderm. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular manifestations. FDH is caused by PORCN gene mutations. PORCN is involved in the secretion and signaling of Wnt proteins, which play a role in embryonic tissue development. The purpose of the International Research Symposium on Goltz Syndrome was to review the progress that has been made in recent years in research related to this rare disorder and to explore potential future research directions and treatments. This issue of American Journal of Medical Genetics contains the research findings from the evaluations from multiple subspecialties. There is a recommendation for a new diagnostic guideline to aid clinicians in identifying individuals with Focal Dermal Hypoplasia. A tissue repository has been instituted at Texas Children's Hospital, to aid future researchers in this area. © 2016 Wiley Periodicals, Inc.


Fete T.J.,Columbia University | Fete M.,National Foundation for Ectodermal Dysplasias
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | Year: 2016

The International Research Symposium on Goltz Syndrome was held at Texas Children's Hospital on July 22 and 23, 2013. This unique research, educational, and family-oriented symposium was sponsored by the National Foundation for Ectodermal Dysplasias, Baylor College of Medicine and Texas Children's Hospital. Goltz syndrome, or Focal Dermal Hypoplasia (FDH), is a highly variable X-linked dominant disorder with abnormalities in tissues derived from the ectoderm and mesoderm. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular manifestations. FDH is caused by PORCN gene mutations. PORCN is involved in the secretion and signaling of Wnt proteins, which play a role in embryonic tissue development. The purpose of the International Research Symposium on Goltz Syndrome was to review the progress that has been made in recent years in research related to this rare disorder and to explore potential future research directions and treatments. This issue of American Journal of Medical Genetics contains the research findings from the evaluations from multiple subspecialties. There is a recommendation for a new diagnostic guideline to aid clinicians in identifying individuals with Focal Dermal Hypoplasia. A tissue repository has been instituted at Texas Children's Hospital, to aid future researchers in this area. © 2016 Wiley Periodicals, Inc.


Maxim R.A.,Saint Louis University | Zinner S.H.,University of Washington | Matsuo H.,Saint Louis University | Prosser T.M.,Texas Christian University | And 3 more authors.
The Scientific World Journal | Year: 2012

Objective. Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50 of affected children having intellectual disability are controversial. Method. In a cross-sectional study, 45 youth with HED (77 males, mean age 9.75 years) and 59 matched unaffected controls (70 males, mean age 9.79 years) were administered the Kaufman Brief Intelligence Test and the Kaufman Test of Educational Achievement, and their parents completed standardized neurodevelopmental and behavioral measures, educational, and health-related information regarding their child, as well as standardized and nonstandardized data regarding socioeconomic information for their family. Results. There were no statistically significant differences between the two groups in intelligence quotient composite and educational achievement scores, suggesting absence of learning disability in either group. No gender differences within or between groups were found on any performance measures. Among affected youth, parental education level correlated positively with (1) cognitive vocabulary scores and cognitive composite scores; (2) educational achievement for mathematics, reading, and composite scores. Conclusion. Youth affected with HED and unaffected matched peers have similar profiles on standardized measures of cognition, educational achievement, and adaptive functioning although children with HED may be at increased risk for ADHD. © 2012 Rolanda A. Maxim et al.


Koch P.J.,Aurora University | Koch P.J.,Charles University | Dinella J.,Aurora University | Dinella J.,Charles University | And 4 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC. However, it is currently not clear how mutations in TP63 lead to the various defects seen in the patients' skin. In this review, we will discuss current knowledge of the AEC disease mechanism obtained by studying patient tissue and genetically engineered mouse models designed to mimic aspects of the disorder. We will then focus on new approaches to model AEC, including the use of patient cells and stem cell technology to replicate the disease in a human tissue culture model. The latter approach will advance our understanding of the disease and will allow for the development of new in vitro systems to identify drugs for the treatment of skin erosions in AEC patients. Further, the use of stem cell technology, in particular induced pluripotent stem cells (iPSC), will enable researchers to develop new therapeutic approaches to treat the disease using the patient's own cells (autologous keratinocyte transplantation) after correctionof the disease-causing mutations. © 2014 Wiley Periodicals, Inc.


Trademark
National Foundation For Ectodermal Dysplasias | Date: 2015-07-30

Printed pamphlets, brochures, manuals, books, booklets, leaflets, informational flyers, informational sheets and newsletters, adhesive backed stickers, and kits comprised solely of one or more of the foregoing materials in the field of ectodermal dysplasias; pens; writing paper; highlighter pens; address labels. Umbrellas; all-purpose carrying bags; backpacks. T-shirts; sweatshirts; sports caps and hats; visors; beanies; bandanas; childrens and infants apparel, namely, jumpers, overall sleepwear, pajamas, rompers and one-piece garments; raincoats; tank tops; jackets; footwear. Charitable services, namely, providing online resources in the nature of a website for connecting individuals affected by ectodermal dysplasias; promoting technical and scientific investigation, research, and experimentation in the field of ectodermal dysplasias through support of educational institutions and scientific organizations; organizing and developing charitable projects that aim to provide information and resources to people with ectodermal dysplasias and their families; promoting public awareness of ectodermal dysplasias, detection, treatment, and patient and family services. Charitable fundraising services to support ectodermal dysplasias research, education, advocacy, prevention, detection, treatment, and patient and family services; charitable fundraising by means of organizing and conducting special events; online charitable fundraising; charitable foundation services, namely, providing financial support to families and patients affected by ectodermal dysplasias for medical or dental care necessitated by the condition; charitable fundraising services by means of selling t-shirts, sweatshirts, headwear, and other promotional items to raise funds for ectodermal dysplasias. Developing educational materials for others in the field of ectodermal dysplasias; charitable services, namely, providing conferences and educational materials in the nature of brochures, pamphlets, and fliers to families and patients in the field of ectodermal dysplasias; providing online newsletters in the field of ectodermal dysplasias.

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