$Unique_ID{BRK03746} $Pretitle{} $Title{Focal Dermal Hypoplasia} $Subject{Focal Dermal Hypoplasia Combined Mesoectodermal Dysplasia DHOF Ectodermal and Mesodermal Dysplasia Congenital Ectodermal and Mesodermal Dysplasia with Osseous Involvement FDH FODH Focal Dermal Dysplasia Syndrome Focal Dermato-Phalangeal Dysplasia Goltz-Gorlin Syndrome Goltz Syndrome Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectodermal Dysplasias Oculocerebrocutaneous Syndrome} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 926: Focal Dermal Hypoplasia ** IMPORTANT ** It is possible that the main title of the article (Focal Dermal Hypoplasia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Combined Mesoectodermal Dysplasia DHOF Ectodermal and Mesodermal Dysplasia, Congenital Ectodermal and Mesodermal Dysplasia with Osseous Involvement FDH FODH Focal Dermal Dysplasia Syndrome Focal Dermato-Phalangeal Dysplasia Goltz-Gorlin Syndrome Goltz Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectodermal Dysplasias Oculocerebrocutaneous Syndrome 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. Focal Dermal Hypoplasia is a rare form of ectodermal dysplasia that is thought to be inherited as an X-linked dominant genetic trait with lethality in males. It is found primarily in females. This disorder is characterized by skin abnormalities in which there are underdeveloped areas of skin that form streaks or lines and tumor-like herniations of fat on the skin. Skeletal, facial, dental, ocular and soft tissue defects are also present. Symptoms Focal Dermal Hypoplasia is a rare skin disorder that is one of the ectodermal dysplasias. It is characterized by skin lesions that look streaked, underdeveloped or "punched-out". Deposits of fat (papillomas) are typically found on the gums, tongue, lips, vulvae and anus. There may be inflammation, itching, reddening, blistering and crusting of the skin. Skin may be absent, discolored or lack pigmentation (color) in some areas. Overgrowth of tissue may be found on the palms of the hands and soles of the feet. Excessive sweating (hyperhidrosis) or absence of sweating (hypohydrosis) is often present on the palms of the hands and soles of the feet. The hair may be sparse, brittle and/or missing. Eye abnormalities that have been found in some patients with Focal Dermal Hypoplasia are: drooping eyelids (ptosis); clouding of the cornea; a cleft along the edge of the eyeball (coloboma); involuntary rapid movement of the eye (nystagmus); absence of an eye (anophthalmia); wide spacing between the eyes; more than one color within the iris (heterochromia); dislocation of the lens; crossed eyes (strabismus); and/or exposure of the lining of the eyelid (ectropion). Patients with Focal Dermal Hypoplasia may also have a variety of skeletal abnormalities. Curvature of the spine, fused vertebrae, underdeveloped or missing fingers or toes, extra fingers or toes (polydactyly), fingers or toes that have grown together (syndactyly), fingers that bend to the side (clinodactyly), permanently bent fingers (camptodactyly), and/or fusion of bones of the fingers and toes may be present. Other malformations of the skeleton may include a small skull, an underdeveloped jaw, a forward projection of the jaw and/or uneven development of the face, limbs or trunk. Failure of the teeth to develop properly often occurs in patients with Focal Dermal Hypoplasia. The teeth may be missing, underdeveloped, unusually small or improperly spaced. Missing enamel may aid in the development of cavities. Abnormalities of the gums, tongue, lips, ears, heart and kidneys may also be present. Mental retardation can be found in some patients with Focal Dermal Hypoplasia. Causes Focal Dermal Hypoplasia is thought to be inherited as an X-linked dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe form of the condition. Sometimes affected males die before birth so that only females patients survive. Affected Population It is thought that Focal Dermal Hypoplasia when expressed fully is lethal in males. As a result, there have been only 11 males to 150 females observed in the medical literature. Focal Dermal Hypoplasia occurs in many areas of the world. Related Disorders Symptoms of the following disorders can be similar to those of Focal Dermal Hypoplasia. Comparisons may be useful for a differential diagnosis: Ectodermal Dysplasias are a group of hereditary, nonprogressive skin diseases in which the affected tissue derives primarily from the ectodermal germ layer. The skin, it's derivatives, and some other organs are involved. Symptoms may include eczema, poorly functioning sweat glands, sparse or absent hair, abnormal hair, disfigured nails, and difficulty with the nasal passages and ear canals. (For more information on these disorders, choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome is a genetic disorder which may be characterized by an absence of fingers and/or toes (ectrodactyly); an absence of tear ducts; cleft lip and/or palate; and sparse scalp hair, lashes and eyebrows. This disorder may be inherited through an autosomal dominant genetic trait. (For more information on this disorder, choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Oculocerebrocutaneous Syndrome is a rare congenital disorder that may occur for no apparent reason (sporadically) or may be inherited as an autosomal dominant genetic trait. Affected individuals may have cysts in the orbit of the eye, malformations of the brain including cysts in the cavities, small brown or flesh colored tags of skin in the orbit of the eyes and front of the ears, skin lesions on the head and trunk as well as seizures. (For more information on this disorder, choose "Oculocerebrocutaneous Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Treatment for patients with Focal Dermal Hypoplasia is directed at the symptoms. Dermatological creams may relieve skin discomfort. Dentures, hearing aids, etc. may be required. Heat and overexercise should be avoided. Limb deformities may be treated with surgery. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational The National Institutes 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 food and maintenance of the bone that supports the denture. To be eligible to participate in this study, individuals must have Ectodermal Dysplasia, be missing several teeth, and be between the ages of twelve and seventy. 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 Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through August 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 Focal Dermal Hypoplasia, 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 Street Mascoutah, IL 62258 (618) 566-2020 National Institute of Dental Research (NIDR) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 468-3235 For Genetic Information and Genetic Counseling Referrals: 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, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1592-93. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. P. 472. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 516-17. VARIABLE EXPRESSION IN FOCAL DERMAL HYPOPLASIA. AN EXAMPLE OF DIFFERENT X-CHROMOSOME INACTIVATION: M.A. Wechsler, et al.; Am J Dis Child (March, 1988, issue 142(3)). Pp. 297-300. FOCAL DERMAL HYPOPLASIA SYNDROME. CASE REPORT AND LITERATURE REVIEW: E.H. Hall et al.; J Am Acad Dermatol (September, 1983, issue 9(3)). Pp. 443-51. CUTANEOUS DEFECTS OF FOCAL DERMAL HYPOPLASIA: AN ECTOMESODERMAL DYSPLASIA SYNDROME: J.B. Howell et al.; J Cutan Pathol (October, 1989, issue 16(5)). Pp. 237-58.