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Πέμπτη 18 Ιουλίου 2019

Ectodermal dysplasia


Anhidrotic X-Linked Ectodermal Dysplasias
Anodontia
Book Syndrome
Chaund's Ectodermal Dysplasias
Chondroectodermal Dysplasias
Christ-Siemans-Touraine Syndrome
Cloustons Syndrome
Curly Hair-Ankyloblephanon-Nail Dysplasia
Dentooculocutaneous Syndrome
Ectrodactyly Ectodermal Dysplasias Clefting Syndrome
Ellis-van Creveld Syndrome
Facial Ectodermal Dysplasias
Freire-Maia Syndrome
Gorlin's Syndrome
Hidrotic Ectodermal Dysplasias
Hypohidrotic Ectodermal Dysplasias, Autorecessive
Hypoplastic Enamel-Onycholysis-Hypohidrosis
Incontinentia Pigmenti
Marshall's Ectodermal Dysplasias With Ocular nad Hearing Defects
Monilethrix
Naegeli Ectodermal Dysplasias
Nail Dystrophy-Deafness Syndrome
Oculodentodigital Syndrome
Odontotrichomelic Syndrome
Onychotrichodysplasia with Neutropenia
Oral-Facial-Digital Syndrome (Type I)
Otodental Dysplasia
Pachyonychia Congenita
Palmoplantar Hyperkeratosis and Alopecia
Rapp-Hodgkin Hypohidrotic Ectodermal Dysplasias
Robertson's Ectodermal Dysplasias
Rosselli-Gulienatti Syndrome
Schopf-Schultz-Passarge Syndrome
Stevanovic's Ectodermal Dysplasias
Tooth and Nail Syndrome
Trichodento Osseous Syndrome
Trichorhinophalangeal Syndrome
Triphalangeal Thumbs-Hypoplastic Distal Phalanges-Onychodystrophy
Witkop Ectodermal Dysplasias
Xeroderma, Talipes, and Enamel Defect
General Discussion
The Ectodermal Dysplasias are a group of hereditary, non-progressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, its derivatives, and some other organs are involved. A predisposition to respiratory infections, due to a somewhat depressed immune system and to defective mucous glands in parts of the respiratory tract, is the most life threatening characteristic of this group of disorders.
Signs & Symptoms
Symptoms include eczema, poorly functioning sweat glands, sparse or absent hair follicles, abnormal hair, disfigured nails, and difficulties with the nasal passages and ear canals. Skin is satiny smooth, prone to rashes, and slow to heal. Commonly, the teeth fail to develop properly. Other complications may include hearing deficit, loss of sight, mental retardation, limb abnormalities, cleft palate and lip, and urinary tract anamolies. Allergies are common, as are bronchitis and pneumonia.

The numerous syndromes reported represent different combinations of these symptoms. They are traditionally grouped into the anhydrotic and hidrotic syndromes, according to whether they include the absence or severe deficiency of sweat glands. The syndrome have now been divided into three groups: pure, complex, and related. Pure ectodermal dysplasia syndrome involve only the hair, nails, sweat glands, and hair. Complex syndromes include these findings in addition to others. Syndromes in which other factors are primary to the effects on the hair, nails, sweat glands, or teeth are considered to be related conditions.

Some significant syndromes include Rapp-Hodgekin hypohidrotic ectodermal dysplasia, ectrodactyly ectodermal dysplasia, ectrodactyly-ectodermal dysplasia-clefting syndrome, trichorhinophalangeal syndrome, oral-facial-digital syndrome, nail dystrophy-deafness syndrome, trichodento-osseous syndrome, and the Johanson-Blizzard syndrome. (For more information on specific forms of Ectodermal Dysplasia, use the specific disease name as your search term in the Rare Disease Database.)

Causes
Ectodermal Dysplasias are a group of approximately 150 related diseases that result from faulty development of the ectodermal germ cell layer during embryogenesis. Because of the phenomenon of induction, derivatives of other cell layers may be affected. The exact genetic and biochemical defects are unknown, and are thought to vary from one form of the disorder to another.

The various syndromes have different inheritance patterns. Anhidrotic ectodermal dysplasia, for example, usually involves an X-linked recessive inheritance, with partial manifestation in females. However, it may also be transmitted as an autosomal dominant or recessive trait. X-linked recessive disorders are conditions that are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a 50 percent risk of transmitting the carrier condition to their daughters, and a 50 percent risk of transmitting the disease to their sons. Syndromes with this pattern tend to be more severe.

The Rapp-Hodgkin Syndrome, by comparison, is an autosomal dominant disorder. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

The gene for one form of Ectodermal Dysplasia known as Hypohidrotic Ectodermal Dysplasia (HED) has been located. Researchers plan to study the function of the gene and investigate the role of the proteins that are encoded by the H.E.D. gene. This gene identification will lead to a test for carrier status.

Affected Populations
Ectodermal Dysplasias are a group of rare disorders that may affect males and females in equal numbers. It is estimated the approximately 125,000 individuals in the United States are carriers for some form of the disease.

Related Disorders
Symptoms of the following disorders can be similar to those of Ectodermal Dysplasia. Comparisons may be useful for a differential diagnosis:

There is considerable confusion about what should be considered an ectodermal dysplasia, and what should be excluded from this category. Many syndromes involve ectodermal structures, but are progeroid diseases, i.e. they involve premature ageing. Others consist of the congenital absences of a single ectodermally derived structure, such as the pituitary. Most researchers do not consider such disorders ectodermal dysplasias.

Standard Therapies
No cure for the underlying causes of Ectodermal Dysplasia is known. Treatment is directed at symptoms. Over the counter creams may relieve skin discomfort. Dentures, hearing aids, etc. may be required. Heat and over- exercise are avoided. Vaccines and anti-infectious agents are used to reduce infections of skin and respiratory tract. Cleft palate and lip, syndactyly, and other limb deformations are treated by surgery.Precautions should be taken to minimize the effects of overheating while exercising or in warm temperatures.

Genetic counseling is important for Ectodermal Dysplasia patients and their relatives planning to have children.

Investigational Therapies
Two research projects are underway to determine the gene responsible for Clouston Syndrome (Hidrotic Ectodermal Dysplasia). Participation in these projects involves a review of medical records and the donation of a small blood sample. A skin biopsy may also be requested. For more information, contact:

Amy Paller, M.D.

Division of Dermatology

Northwestern University Medical School

2300 Children’s Plaza

Box 107

Chicago, IL

(312) 880-4000

or

Jonathan Zonana, M.D.

Susan J Hayflick, M.D.

Oregon Health Sciences University

Department of Molecular and Medical Genetics

3181 SW Sam Jackson Park Road, L103

Portland, OR 97201-3098

(503) 494-6966

Researchers are conducting a genetic study to investigate the relationship between Ectodermal Dysplasia and Split-Hand/Foot Deformity (ectrodactyly), which has been described as “EEC Syndrome” or Ectodermal Dysplasia, Ectrodactyly, and Clefting. The association among these syndromes may indicate a common gene or genes. For more information on this study, contact:

Bernard Weissman, M.D.

Philippa Charlton, M.D.

P.O. Box 7100

University of North Carolina

Chapel Hill, NC 27599-7100

(919) 966-5691

The National Foundation for Ectodermal Dysplasias (NFED) and the School of Dental Medicine (SDM) at Southern Illinois University are engaged in a program to provide dental implants to individuals affected by Ectodermal Dysplasia. Interested individuals should contact NFED for the initial screening of potential participants. Such individuals must have Ectodermal Dysplasia, be missing a majority of teeth in the lower jaw (mandible), and not have any complicating factors. In addition, they must be willing to participate in the related research project, which requires periodic check-ups. For more information, please contact the National Foundation for Ectodermal Dysplasias, which is listed in the Resources section below.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

Resources
RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease.  For more information, visit www.rareconnect.org.

NORD Member Organizations
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Hights, IL 62208 USA
Phone: (618) 566-2020
Email: info@nfed.org
Website: http://www.nfed.org
Other Organizations
Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Phone: (616) 329-1335
Email: Rachel@cleftsmile.org
Website: http://www.cleftsmile.org
Ectodermal Dysplasia Society
Unit 1 Maida Vale Business Centre
Leckhampton
England, GL53 7ER United Kingdom
Phone: 4401242261332
Toll-free: 4407805775703
Email: diana@ectodermaldysplasia.org
Website: http://www.ectodermaldysplasia.org
Ectodermal Dysplasias
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Phone: (301) 251-4925
Toll-free: (888) 205-2311
Website: http://rarediseases.info.nih.gov/GARD/
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Phone: (650) 462-3174
Email: info@letthemhear.org
Website: http://www.letthemhear.org
Locks of Love
234 Southern Blvd.
West Palm Beach, FL 33405-3099
Phone: (561) 833-7332
Toll-free: (888) 896-1588
Email: info@locksoflove.org
Website: http://www.locksoflove.org
March of Dimes
1550 Crystal Dr, Suite 1300
Arlington, VA 22202 USA
Phone: (888) 663-4637
Website: http://www.marchofdimes.org
NIH/National Institute of Dental and Craniofacial Research
Building 31, Room 2C39
31 Center Drive, MSC 2290
Bethesda, MD 20892 USA
Phone: (301) 496-4261
Toll-free: (866) 232-4528
Email: nidcrinfo@mail.nih.gov
Website: http://www.nidcr.nih.gov/
References
TEXTBOOKS

Birth Defects Encyclopedia: Mary Louise Buyse, Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 596-604.

The Merck Manual, 17th Ed.: Robert Berkow and Mark Beers, Editors; Merck Research Laboratories; 1999. P. 761.

Textbook of Dermatology, 5th Ed.: R.H. Champion, J.L. Burton, and F.J.G. Ebling, Editors; Blackwell Scientific Publications, 1992. Pp. 334-46, 376, 379, 1382, & 2694-95.

FROM THE INTERNET

eMedicine – Ectodermal Dysplasia: Article by Kara N Shah, MD, PhD

www.emedicine.com/derm/topic114.htm

Hypohidrotic ectodermal dysplasia – Genetics Home Reference

http://www.ghr.nlm.nih.gov/

Ectodermal dysplasia

http://www.umm.edu/ency/article/001469.htm

Ectodermal dysplasia
Información en español
Categories: Congenital and Genetic Diseases
Subtypes: AREDYLD; Barber Say syndrome; Book syndrome; See More
Summary
Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of EDs are caused by mutations in different genes, and can be inherited in a variety of ways. No cure currently exist for the different types of ED, but many treatments are available to address the individual symptoms.[1][2]
Last updated: 7/17/2017
Inheritance
Ectodermal dysplasias are genetic disorders, which means that they can be passed on from affected people to their children. They are caused by mutations in various genes; the mutations may be inherited from a parent, or normal genes may become mutated at the time of egg or sperm formation, or after fertilization. The risk for parents to have an affected child depends on the inheritance pattern of the specific type of ectodermal dysplasia with which the individual in the family has been diagnosed. Thus, a family affected by an ectodermal dysplasia should consider speaking with a geneticist or a genetic counselor for a better understanding of the specific ectodermal dysplasia and the probabilities or risks that the ectodermal dysplasia will occur in any future pregnancy.[3]

The different types of inheritance patterns that occur depending on the specific type of ectodermal dysplasia in the family include x-linked recessive, autosomal dominant, and autosomal recessive.
X-linked recessive: If a woman is a carrier of an x-linked recessive form, there is a 50% chance that each of her male children will inherit the mutated gene and be affected, and a 50% chance that each female will inherit the mutated gene and be a carrier (like the mother). If a man has the mutated gene, he will be affected and will also pass the gene on to all of his daughters, who will be carriers. Since the gene is on the X chromosome, his sons will not be affected because they receive the man’s Y.[3]
Autosomal dominant: When the ectodermal dysplasia is an autosomal dominant form, the parent who is affected has a single copy of the mutated gene (which is sufficient to cause the disorder in any autosomal dominant condition) and may pass it on to his or her children. Regardless of the gender of the parent or the child, there is a 50% chance for each child to receive the mutated gene and be affected, and a 50% chance to not inherited the mutated gene. All children who receive the mutated gene will be affected.[3]
Autosomal recessive: When the ectodermal dysplasia in the family is an autosomal recessive form, the usual situation is that each parent is unaffected, but likely has one mutated copy of the gene and one normal copy of the gene. They are said to be carriers.[3] Carriers do not typically show signs and symptoms of an autosomal recessive condition. When two parents who are carriers have children, with each pregnancy there is a 25% (1 in 4) risk for the child to have the condition, a 50% (1 in 2) risk for the child to be an unaffected carrier like each of the parents, and a 25% chance for the child to not have the condition AND not be a carrier (and therefore not pass the mutation on to future generations). To be affected with an autosomal recessive condition, an individual must have two mutated copies of the disease-causing gene.
Sometimes, when an individual is the first person in a family to be affected with an ectodermal dysplasia, it is because a new mutation occurred in that individual, and neither of the parents carry a mutated copy of the gene. Usually, in this case, there is little chance (about 1%) that it will occur in another child of the same parents. However, the affected child may transmit the disease-causing gene to future generations.[3] It is also important to know that even in families and individuals who have the exact same mutation, there can be variability in how the condition affects each family member.

Individuals who have questions about their own genetic risks or status, or risks to current and future family members, should speak with a genetics professional.
Last updated: 11/7/2016
Do you have updated information on this disease? We want to hear from you.
Research
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources
ClinicalTrials.gov lists trials that are related to Ectodermal dysplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Patient Registry
A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Ectodermal dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Ectodermal dysplasia:
United States Immunodeficiency Network (USIDENT) Registry

Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease
American Hair Loss Association
23679 Calabasas Road # 682
Calabasas, CA 91301-1502
E-mail: info-ahla@americanhairloss.org
Website: http://americanhairloss.org
Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)
124 Lochiel Street
Renfrew, Ontario K7V 1W7 Canada
Telephone: +1-613-432-9732
E-mail: meghan@ectodermaldysplasia.ca
Website: http://www.ectodermaldysplasia.ca/
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: contactCCA@ccakids.com
Website: https://ccakids.org/
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: http://www.faces-cranio.org/
Genetic Skin Disease Center
Stanford Medical Dermatology Clinic
Stanford Medicine Outpatient Center
450 Broadway
Pavilion B, 4th Floor
Redwood City, CA 94063
Telephone: 650-723-6316
Fax: 650-725-7711
Website: http://dermatology.stanford.edu/contact/
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Heights, IL 62258-1360
Telephone: 618-566-2020
Fax: +1-618-566-4718
E-mail: info@nfed.org
Website: http://nfed.org/
The Ectodermal Dysplasia Society
Unit 1 Maida Vale Business Centre
Leckhampton
Cheltenham
Gloucestershire GL53 7ER
United Kingdom
Telephone: +44 (0) 1242 261332
E-mail: info@edsociety.co.uk
Website: https://edsociety.co.uk/
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: info@worldcf.org
Website: http://www.worldcf.org/
Do you know of an organization? We want to hear from you.
Learn More
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
PubMed is a searchable database of medical literature and lists journal articles that discuss Ectodermal dysplasia. Click on the link to view a sample search on this topic.
GARD Answers
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Is there any way of repairing or replacing the missing gene in individuals with ectodermal dysplasia? See answer

My husband's sister's son has a form of ectodermal dysplasia (problems with the skin, hair, sweat glands and teeth). No one else in my husband's family is affected. My husband and I don't have children yet. Is it possible that my husband is a carrier or that my future children could have the condition or be carriers? I'm very confused and worried. See answer


Have a question? Contact a GARD Information Specialist.
References
About Ectodermal Dysplasias. National Foundation for Ectodermal Dysplasias. http://nfed.org/index.php/about_ed/about-ectodermal-dysplasias.
Ectodermal dysplasia. MedlinePlus. July 23, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001469.htm.
Genetics. National Foundation for Ectodermal Dysplasias. 2016; http://nfed.org/index.php/about_ed/genetics.
Ectodermal dysplasia syndrome. Orphanet. 2013; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11399.
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