61. UniProt Knowledgebase Keyword: Anhidrotic Ectodermal Dysplasia Protein which, if defective, causes anhidrotic ectodermal dysplasia (EDA), EDA_HUMAN, Q92838, EDA, ED1, Ectodysplasin A (ectodermal dysplasia protein) http://www.expasy.org/cgi-bin/get-entries?KW=Anhidrotic ectodermal dysplasia

62. Anhydrotic Ectodermal Dysplasia - HUM-MOLGEN Author, Topic Anhydrotic ectodermal dysplasia. Dr. Colbert Member, posted 0215-2001 0636 PM Click Here to See the Profile for Dr. Colbert Click Here to http://hum-molgen.org/bb/Forum2/HTML/000063.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Anhydrotic Ectodermal Dysplasia profile register preferences faq ... next oldest topic Author Topic: Anhydrotic Ectodermal Dysplasia Dr. Colbert Member posted 02-15-2001 06:36 PM I am a first year medical student at Emory University School of Medicine, and I was wondering if anyone knows of a laboratory that test a potential carrier of Ectodermal Dysplasia. If so, please contact me with the information at: cacolbe@emory.edu Thank you, Cherie A. Colbert, M1 IP: 170.140.107.239 mvanstee unregistered posted 07-02-2001 02:45 PM Our hospital does. Contact the department of Human Genetics, DNA diagnostics department. You might want to do this via professor Brunner, h.brunner@antrg.azn.nl. Regards M van Steensel UMC Nijmegen IP: 131.174.198.49 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

63. Penn State Faculty Research Expertise Database (FRED) Anhidrotic ectodermal dysplasia, Aplasia Cutis Congenita. ChristSiemens-Touraine Syndrome Ectodermal Defect, Congenital, Hidrotic ectodermal dysplasia http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D004476

64. Ectodermal Dysplasia Articles, Support Groups, And Resources ectodermal dysplasia articles, support groups, and resources for patients from Med Help International (www.medhelp.org) http://www.medhelp.org/HealthTopics/Ectodermal_Dysplasia.html

[Health Topics A-Z] A B C D ... Z Ectodermal Dysplasia Medical Glossary: ANHIDROTIC ECTODERMAL DYSPLASIA ECTODERMAL DYSPLASIA Med Help International Search ... Site Map Revised: 9/7/2005

65. ANHIDROTIC ECTODERMAL DYSPLASIA ANHIDROTIC ectodermal dysplasia A hereditary condition (most often x linked) that is characterized by the abnormal development of skin, absence of sweat http://www.medhelp.org/glossary2/new/GLS_0347.HTM

ANHIDROTIC ECTODERMAL DYSPLASIA - A hereditary condition (most often x linked) that is characterized by the abnormal development of skin, absence of sweat glands dry eyes , and abnormal development of teeth. Symptoms include absent teeth, peg teeth, inability to sweat, thin skin, and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling. Med Help International Library Search Ask the Doctor Forums The medical glossary has been made possible by a generous donation from:

66. Arch Otolaryngol Head Neck Surg -- Abstract: Otologic Manifestations Of Ectoderm Design Case series. Setting ectodermal dysplasia family conference. Patients Sixtynine individuals with ED were evaluated. The average age was 11 years http://archotol.ama-assn.org/cgi/content/abstract/130/9/1104

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 130 No. 9, September 2004 Featured Link E-mail Alerts Original Article Article Options Full text PDF Send to a Friend Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Shin JJ Hartnick CJ Contact me when this article is cited Topic Collections Quality of Life Hearing Loss/ Deafness Middle/ External Ear Disorders Topic Collection Alerts Otologic Manifestations of Ectodermal Dysplasia Jennifer J. Shin, MD Christopher J. Hartnick, MD, MS (Epi) Arch Otolaryngol Head Neck Surg. To determine the range and prevalence of otologic disorders in patients with ectodermal dysplasia (ED) and provide a general review of its multiple otolaryngological manifestations. Case series. Ectodermal dysplasia family conference.

67. DermIS / Main Menu / DOIA / Ectodermal Dysplasia / Info information on the diagnosis ectodermal dysplasia If you are a patient with ectodermal dysplasia , please complete our; WebsiteQuestionnaire http://www.dermis.net/doia/diagnose.asp?zugr=d&lang=e&diagnr=757360&topic=i

68. DermIS / Main Menu / DOIA / Alphabetically / Diagnosenames Containing 'ectoderma ectodermal dysplasia, anhidroticectodermal dysplasia, hypohidrotic, autosomal recessive Anhydrotic ectodermal dysplasia Oligodontia with conical teeth Anhidrotic Ectodermal http://www.dermis.net/doia/abrowser.asp?zugr=d&lang=e&beginswith=ectodermal dysp

69. Ectodermal Dysplasia, Hidrotic ectodermal dysplasia, hidrotic. Clouston syndrome. ectodermal dysplasia, hidrotic, autosomal dominant. ED2. HED. Hidrotic ectodermal dysplasia http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=145

70. Ectodermal Dysplasia ectodermal dysplasia (ED) is a hereditary condition characterized by abnormal development of the skin and associated structures. http://skin-care.health-cares.net/ectodermal-dysplasia.php

71. Re: Any Information On Ectodermal Dysplasia? I am thinking that perhaps you might have meant ectodermal dysplasia not hyperplasia. ectodermal dysplasia (ED) is not a single disorder, but a group of http://www.madsci.org/posts/archives/mar97/859255113.Me.r.html

MadSci Network : Medicine Re: Any information on Ectodermal Dysplasia? Area: Medicine Posted By: June Wingert, Staff,Laboratory Corporation of America Date: Sun Mar 23 16:34:31 1997 Message: Well Regina, your question "What is Ectodermal hyperplasia"? certainly posed a problem for me. After exhaustive searches on the web using the most powerful search engines no information was to be found . I tried to go to the site you referred to (www.nfed.com), but that too drew a blank, no URL at that server. I am thinking that perhaps you might have meant Ectodermal Dysplasia not hyperplasia. I have taken the liberty of including the information on ED in the hopes that maybe this is what you are really looking for. If this is not correct please feel free to resubmit and perhaps supply me with a little more information from the web site you were able to access. Ectodermal Dysplasia Ectodermal Dysplasia (ED) is not a single disorder, but a group of closely related conditions. The Ectodermal Dysplasias are heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat lands and other parts of the body. WHAT IS AN ECTODERMAL STRUCTURE?

72. Re: Need Info About Women With Ectodermal Dysplasia And Pregnancy. Dear Wendy, ectodermal dysplasia is most likely passed on by means of an The gene mutation that causes ectodermal dysplasia resides on chromosome http://www.madsci.org/posts/archives/feb2001/982518995.Ge.r.html

MadSci Network : Genetics Re: Need info about women with Ectodermal Dysplasia and pregnancy. Date: Sun Feb 18 10:49:07 2001 Posted By: Sarah Martin Mason, Medical student, Medicine, Tulane University School of Medicine Area of science: Genetics ID: 978716844.Ge Message: Current Queue Current Queue for Genetics Genetics archives Try the links in the MadSci Library for more information on Genetics MadSci Home Information Search ... Join Us! MadSci Network, webadmin@www.madsci.org

73. Ectodermal Dysplasia - Alegent Health Serving Eastern Nebraska And Southwest Iow ectodermal dysplasia courtesy of Alegent Health serving eastern Nebraska and southwest Iowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley, http://www.alegent.com/12092.cfm

@import url(default.css); Back to Health Library Print This Page Email to a Friend Skin layers Ectodermal dysplasia Definition: Ectodermal dysplasia is a hereditary condition characterized by abnormal development of the skin and associated structures (hair, nails and teeth, and sweat glands). Alternative Names: Anhidrotic ectodermal dysplasia Causes, incidence, and risk factors: There are many different types of ectodermal dysplasia of which X-linked anhidrotic ectodermal dysplasia is the most common. Because the disease is X-linked, males are affected, although females in some cases may also display a range of symptoms. An autosomal dominant form exists in which females and males are equally affected and is symptomatically almost identical to the X-linked form of the disease. Multiple genes have been discovered to cause ectodermal dysplasias. Ectodermal dysplasia may affect, to varying degrees, all of the structures associated with the development of the skin. Absent or decreased sweating in people with anhidrotic ectodermal dysplasia is caused by absence of sweat glands. Affected children have difficulty controlling fevers and mild illness may produce extremely high fevers, because of absent temperature regulation by

74. Nemours.org - Nemours.org - Skeletal Dysplasia - Chondro-ectodermal Dysplasia, E Skeletal Dysplasia Chondro-ectodermal dysplasia, Ellis-van Creveld Syndrome. http://www.nemours.org/internet?url=no/dysplasia/chondro.html

75. Dorlands Medical Dictionary ectodermal dysplasia, anhidrotic, a congenital Xlinked disorder fully expressed in ectodermal dysplasia, hidrotic, an autosomal dominant disorder, http://www.merckmedicus.com/pp/us/hcp/thcp_dorlands_content.jsp?pg=/ppdocs/us/co

76. Ectodermal Dysplasia Best known is hypohidrotic ectodermal dysplasia. Etiology Various types of the disorder may be inherited through a genetic problem such as autosomal http://www.dental.mu.edu/oralpath/lesions/Ectodermal Dysplasia/ectodermaldysplas

Ectodermal Dysplasia A group of inherited conditions where 2 or more ectodermally derived anatomic structures fail to develop. Hypoplasia or aplasia of tissues may be seen. Best known is hypohidrotic ectodermal dysplasia. Etiology: Various types of the disorder may be inherited through a genetic problem such as autosomal dominant, autosomal recessive and X linked. Clinical Features: heat intolerance due to reduced number of sweat glands fine, sparse blond hair reduced density of eyebrow and eyelash hair periocular skin may show wrinkling with hyperpigmentation midface hypoplasia often observed xerostomia reduced number of teeth crown shape abnormal females show partial expression male predominance is usually seen due to X-linked variable Histological Features: decreased amount of sweat glands and hair follicles adnexal structures are hypoplastic and malformed Treatment: genetic counseling dental problems are best managed by prosthetic replacement of the dentition with complete dentures, overdentures or fixed dentures endoosseous dental implants a possibility Webmaster © 2001 - Marquette University School of Dentistry - P.O. Box 1881 - Milwaukee, WI 53201-1881

77. Indian Pediatrics - Editorial Anhidrotic ectodermal dysplasia Presenting as Atrophic Rhinitis and Maggots. ectodermal dysplasia is a group of familial disorders affecting tissues and http://www.indianpediatrics.net/nov2003/nov-1105-1106.htm

Home Past Issue About IP About IAP ... Subscription Letters to the Editor Indian Pediatrics 2003; 40:1105-1106 Anhidrotic Ectodermal Dysplasia Presenting as Atrophic Rhinitis and Maggots Ectodermal dysplasia is a group of familial disorders affecting tissues and organs of ectodermal origin to varying degree. To be diagnosed as ectodermal dysplasia, it is necessary that the disease be congenital, diffuse, non-progressive and should involve at least one ectodermal appendage. Though the dermatologist and pediatrician often manage such cases, we report two cases with epistaxis and falling of maggots from the nose requiring ENT attention. The first patient presented with complaints of occasional scanty epistaxis. On anterior rhinosocopy, he had all the features of atrophic rhinitis like wide roomy nasal cavity and crusts with maggots inside the nasal cavity. Patient also had typical features of anhidrotic ectodermal dysplasia like dry smooth skin with sparse blonde hair all over body. The facial appearance was also typical with depressed nasal bridge, prominent supraorbital ridges, dry protruding lips and fanning out of ear. Oral cavity showed high arched palate and defective dentition. The parents of the child and one elder brother were normal. There was no history of any still birth or abortion in the mother.

78. Keratodermas A three generation family with hypohidrotic ectodermal dysplasia (ED) is Two brothers with hypohidrotic ectodermal dysplasia were found to have http://www.thedoctorsdoctor.com/diseases/ectodermal_dysplasia.htm

Background This is a very rare syndrome that comprises several diseases and is caused by several genetic defects. The most common form is an X-linked disease known as anhidrotic ectodermal dysplasia. Since this is an X-linked inheritance, usually only males are affected although rare female cases have been reported. As the name suggests, there is a fundament defect in the development of the skin and its appendages and mucous membranes. Afflicted patients may have decreased or absent sweating, deformed or absent teeth and nails, foul smelling nasal discharge due to repeated infections, scanty or absent hair, and poor temperature regulation. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/ ... Internet Links EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Christ-Siemens-Touraine syndrome INCIDENCE/ PREVALENCE Rare AGE Congenital SEX X-linked, usually males Autosomal dominant-both DISEASE ASSOCIATIONS CHARACTERIZATION ACANTHOSIS NIGRICANS Autosomal dominant ectodermal dysplasia.

79. X-linked Ectodermal Dysplasia And Immunodeficiency Caused By Reversion Mosaicism Xlinked ectodermal dysplasia and immunodeficiency (XL-EDA-ID) is an X-linked recessive disease caused by a mutation in the nuclear factor- {kappa} B (NF- http://www.bloodjournal.org/cgi/content/abstract/103/12/4565

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Blood, 15 June 2004, Vol. 103, No. 12, pp. 4565-4572. Prepublished online as a Blood First Edition Paper on January 15, 2004; DOI 10.1182/blood-2003-10-3655. This Article Full Text Full Text (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Rights and Permissions PubMed PubMed Citation Articles by Nishikomori, R. Articles by Nakahata, T. Related Collections Signal Transduction Clinical Observations, Interventions, and Therapeutic Trials Immunobiology IMMUNOBIOLOGY X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival Ryuta Nishikomori Hiroshi Akutagawa Kyoko Maruyama Mami Nakata-Hizume Katsuyuki Ohmori Kazunori Mizuno Akihiro Yachie Takahiro Yasumi Takashi Kusunoki Toshio Heike , and Tatsutoshi Nakahata From the Department of Pediatrics and Laboratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan; Department of Pediatrics, Hyogo Prefectural Tsukaguchi Hospital, Tsukaguchi, Japan; Department of Pediatrics, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan; and Department of Laboratory Sciences, School of Health Sciences, Faculty of Medicine, Kanazawa University, Kanazawa, Japan.

80. Ectodermal Dysplasia - School Of Dentistry, University Of Minnesota ectodermal dysplasia, School of Dentistry, University of Minnesota. http://www.dentistry.umn.edu/alumni/consult_services/ectodermal_dysplasia.html

Return to: School of Dentistry Academic Health Center myAHC U of M Home ... Dentistry Home Helpful Links About the School Contact Directory Faculty Biographies ... Consultation Services > Ectodermal Dysplasia Ectodermal Dysplasia Children born with conditions which result in multiple missing teeth or total anodontia need early intervention to improve function and esthetics of their oral cavity. This specialty clinic offers treatment to a wide range of patients, many of whom suffer from ectodermal dysplasia. Denture fabrication and esthetic bonding are done for preschoolers. Continuous follow-up care and prosthetic replacement allows for functional dentitions and esthetic smiles throughout the growing years. For more information contact: Dr. Michael Till Interim Dean, Administraion Phone: (612)625-2670 E-Mail: tillx001@tc.umn.edu Feedback Notice of Privacy Practices Trouble seeing the text? ... Privacy The University of Minnesota is an equal opportunity educator and employer. Last modified on Thursday Aug 19, 2004

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