$Unique_ID{BRK03693} $Pretitle{} $Title{Ectodermal Dysplasias} $Subject{Ectodermal Dysplasias Anhidrotic X-Linked ED Hypohidrotic ED, Autorecessive Christ-Siemans-Touraine Syndrome Xeroderma, Talipes, and Enamel Defect Rosselli-Gulienatti Syndrome Rapp-Hodgekin Hypohidrotic ED Ectrodactyly-ED-Clefting Syndrome Hidrotic ED Cloustons Syndrome Trichodento Osseous Syndrome Trichorhinophalangeal Syndrome Ellis-van Creveld Syndrome (chondroectodermal dysplasia Schopf-Schultz-Passarge syndrome Dentooculocutaneous Syndrome Odontotrichomelic Syndrome Tooth and Nail Syndrome Freire-Maia Syndrome Hypoplastic Enamel-Onycholysis-Hypohidrosis Gorlin's Syndrome Oculodentodigital Syndrome Monilethrix and Anodontia Oral-Facial-Digital Syndrome (type I) Curly hair-Ankyloblepharon-Nail Dysplasia Palmoplantar Hyperkeratosis and Alopecia Onychotrichodysplasia with Neutropenia Facial ED Nail Dystrophy-Deafness Syndrome Triphalangeal Thumbs-Hypoplastic Distal Phalanges-Onychodystrophy Marshall's ED with Ocular and Hearing Defects Book Syndrome Chand's ED Hypertrichosis Langinosa Incontinentia Pigmenti Naegeli Ed Otodental Dysplasia Pachyonychia Congenita Robinson's ED Stevanovic's ED Witkop ED} $Volume{} $Log{} Copyright (C) 1986, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 64: Ectodermal Dysplasias ** IMPORTANT ** It is possible that the main title of this article (Ectodermal Dysplasias) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS Anhidrotic X-Linked ED Hypohidrotic ED, Autorecessive Christ-Siemans-Touraine Syndrome Xeroderma, Talipes, and Enamel Defect Rosselli-Gulienatti Syndrome Rapp-Hodgekin Hypohidrotic ED Ectrodactyly-ED-Clefting Syndrome Hidrotic ED Cloustons Syndrome Trichodento Osseous Syndrome Trichorhinophalangeal Syndrome Ellis-van Creveld Syndrome (chondroectodermal dysplasia) Schopf-Schultz-Passarge syndrome Dentooculocutaneous Syndrome Odontotrichomelic Syndrome Tooth and Nail Syndrome Freire-Maia Syndrome Hypoplastic Enamel-Onycholysis-Hypohidrosis Gorlin's Syndrome Oculodentodigital Syndrome Monilethrix and Anodontia Oral-Facial-Digital Syndrome (type I) Curly hair-Ankyloblepharon-Nail Dysplasia Palmoplantar Hyperkeratosis and Alopecia Onychotrichodysplasia with Neutropenia Facial ED Nail Dystrophy-Deafness Syndrome Triphalangeal Thumbs-Hypoplastic Distal Phalanges-Onychodystrophy Marshall's ED with Ocular and Hearing Defects Book Syndrome Chand's ED Hypertrichosis Langinosa Incontinentia Pigmenti Naegeli Ed Otodental Dysplasia Pachyonychia Congenita Robinson's ED Stevanovic's ED Witkop ED General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. 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. 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. 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. Causes Ectodermal dysplasias 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, involves an X-linked recessive inheritance, with partial manifestation in females. (X-linked recessive traits are expressed predominantly in males. Females carry the gene on one of their two X chromosomes. The second X chromosome will "mask" the trait, however, if the trait is x-linked recessive. The trait is expressed in males because instead of a second X chromosome, they have a Y chromosome which does not "mask" the harmful gene. Affected males cannot transmit the trait to their sons.) Syndromes with this pattern tend to be more severe. The Rapp- Hodgkin Syndrome, by comparison, is an autosomal dominant disorder. (In autosomal dominant disorders, a single abnormal gene, contributed by either parent, "overrides" the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a 50% chance of inheriting the disorder. Males and females are affected in equal numbers.) Related Disorders 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. Therapies: Standard 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. Genetic counseling is important for Ectodermal Dysplasia patients and their relatives planning to have children. Therapies: Investigational The National Institute of Dental Research in Bethesda, MD, is conducting a research project to evaluate dental treatment of individuals who have Ectodermal Dysplasia. Treatment will consist of either conventional removable dentures or fixed dentures supported by dental implants. The project is designed to evaluate the effect of dental implants on such things as satisfaction with treatment, the ability to chew foods and maintenance of the bone that supports the dentures. To be eligible to participate in this study, individuals must have Ectodermal Dysplasia, be missing several teeth, and between the ages of twelve and seventy years. A complete oral and dental examination will be provided to determine if an individual qualifies for the evaluations for a period of five years. Financial aid is expected to be available to help defray travel and lodging expenses for trips to Bethesda, MD. For additional information, physicians can contact: Albert D. Guckes, M.D. Dental Clinic, NIDR Bldg. 10, Rm. 6S-255 National Institutes of Health Bethesda, MD 20892 (301) 496-4371 (301) 496-2944 The National Foundation for Ectodermal Dysplasias is conducting a research project to determine if thermography is a reliable teat to determine the carrier status for high risk women who have no dental or other anomalies. A thermography is a diagnostic technique for recording hot and cold areas of the body by means of infra red scanning. The amount of sweating in these areas will be measured. Patients who are interested in this study may have their physician contact: National Foundation for Ectodermal Dysplasias 219 E. Main St. P.O. Box 114 Mascoutah, IL 62258-0114 (618) 566-2020 The Human Genetics Branch of the National Institute of Child Health and Human Development (NICHHD) is conducting a study of X-linked inherited Hypohidrotic Ectodermal Dysplasia. This study will attempt to explore how this disorder affects the hair, nails, teeth, hormonal function, speech, swallowing, learning, and the production of tears, sweat, and saliva. Researchers will also measure the levels of epidermal growth factor (EGF) in various body fluids. Male patients affected by X-linked Ectodermal Dysplasia and females that are known carriers may wish to have their physician contact: NIH/National Institute of Child Health and Human Development Human Genetics Branch Dr. Laura Russell Bldg. 10, Rm. 9S242 Bethesda, MD 20892 (301) 402-0889 This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ectodermal Dysplasias, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 215-16, 915. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2347.