$Unique_ID{BRK03875} $Pretitle{} $Title{Ichthyosis, Tay Syndrome} $Subject{Ichthyosis, Tay Syndrome Disorder of Cornification 14 (Trichothiodystrophy Type) DOC 14 (Trichothiodystrophy Type) IBIDS Syndrome Ichthyosiform Erythroderma with Hair Abnormality and Growth and Mental Retardation Ichthyosis, Congenital, with Trichothiodystrophy Trichothiodystrophy with Congenital Ichthyosis BIDS Syndrome (Brittle hair, Intellectual impairment, Decreased fertility, Short stature; Amish Brittle Hair Syndrome) Pollitt Syndrome (Trichorrhexis Nodosa Syndrome) Ichthyoses (Disorders of Cornification) Netherton Syndrome } $Volume{} $Log{} Copyright (C) 1988, 1989, 1993 National Organization for Rare Disorders, Inc. 554: Ichthyosis, Tay Syndrome ** IMPORTANT ** It is possible that the main title of this article (Tay Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Disorder of Cornification 14 (Trichothiodystrophy Type) DOC 14 (Trichothiodystrophy Type) IBIDS Syndrome Ichthyosiform Erythroderma with Hair Abnormality and Growth and Mental Retardation Ichthyosis, Congenital, with Trichothiodystrophy Trichothiodystrophy with Congenital Ichthyosis Information on the following disorders can be found in the Related Disorders section of this report: BIDS Syndrome (Brittle hair, Intellectual impairment, Decreased fertility, Short stature; Amish Brittle Hair Syndrome) Pollitt Syndrome (Trichorrhexis Nodosa Syndrome) Ichthyoses (Disorders of Cornification) Netherton 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 physician and/or the agencies listed in the "Resources" section of this report. Tay Syndrome is a hereditary disorder characterized by brittle, twisted hair, scaly dry skin (ichthyosis), and abnormal finger and toe nails. Loss of subcutaneous fat results in a prematurely aged-looking face. Physical development is usually slowed and mental retardation may also be present. A wide variety of central nervous system abnormalities may include seizures, tremors, lack of muscle coordination (ataxia), and neurosensory deafness. The reproductive organs are usually underdeveloped. Very small cataracts often develop in the eyes. Abnormalities of the bones and teeth may also occur, as well as an increased susceptibility to infection. Symptoms Tay Syndrome is characterized by brittle, twisted hair that is low in sulfur content (trichothyodystrophy). The skin over most of the body surface is covered with fine, dark scales (ichthyosis). This so-called "disorder of cornification" of the skin may be present at birth as a parchment-like (collodion) membrane. The sulfur deficient nails are abnormally short, broad, and ridged, and they split easily. Loss of subcutaneous fat usually results in a prematurely old-looking face. A beaked nose, receding chin, and protruding ears are also characteristic of Tay Syndrome. The central nervous system may be affected with seizures, tremors, lack of muscle coordination, and nerve deafness. The testes may fail to descend (cryptorchidism) in males, and female genitalia may be underdeveloped. In women, breast tissue may be completely absent in spite of normal development of the nipples. Very small cataracts often occur in the eyes. Bone and teeth abnormalities appear in some cases. Patients with Tay Syndrome may also have an increased susceptibility to infection. Causes Tay Syndrome is a hereditary disorder transmitted through autosomal recessive genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Tay Syndrome is usually present at birth. Males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders may resemble those of Tay Syndrome. Comparisons may be useful for a differential diagnosis: Amish Brittle Hair Syndrome (Hair-Brain Syndrome; BIDS Syndrome) is a rare hereditary disorder that tends to occur in people of Amish descent. It is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature. It lacks the skin and facial abnormalities of Tay Syndrome. Pollitt Syndrome (Trichorrhexis Nodosa Syndrome) is a hereditary disorder characterized by mental and physical retardation, an abnormally small head and fragile hair (trichorrhexis nodosa) that may fall out. The skin is usually scaly and the nails are underdeveloped and spoon-shaped. Some researchers believe this disorder may be the same as Amish Brittle Hair Syndrome. "Ichthyoses" or "Disorders of Cornification" are general terms describing a group of scaly skin disorders. They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of skin cells known as "corneocytes" or of the fat-rich matrix around these cells. The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (For more information, choose "Ichthyosis" as your search term in the Rare Disease Database.) Netherton Syndrome is a very rare form of ichthyosis that occurs almost exclusively in females. It is characterized by scaling of the skin in a circular pattern. Hair shafts are held back in the hair root (trichorrhexis invaginata). Fragile hair on the head characteristic of this disorder is called "bamboo hair" (trichorrhexis nodosa). Patients with Netherton Syndrome are usually predisposed to allergies such as asthma, or food allergies which can cause skin eruptions. (For more information, choose "Netherton Syndrome" as your search term in the Rare Disease Database.) Other forms of Ichthyosis include Sjogren-Larsson Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier Disease, Conradi- Hunermann Syndrome, Chanarin-Dorfman Syndrome, and Epidermolytic Hyperkeratosis. (Choose the appropriate name as your search term for more information on that disorder in the Rare Disease Database. Therapies: Standard Skin symptoms of Tay Syndrome are treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for this disorder. Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate can be effective against skin symptoms of Tay Syndrome, but can cause toxic effects on the bones in some cases. A synthetic derivative of Vitamin A, isotretinoin (accutane), when taken by pregnant women, can cause severe birth defects to the fetus. These Vitamin A compounds have not yet been approved by the Food and Drug Administration (FDA) for treatment of Ichthyosis. Other treatment is symptomatic and supportive. Genetic counseling may be helpful for families of children with Tay Syndrome, and special education services may be required in school. Therapies: Investigational The National Institute of Arthritis, Musculoskeletal and Skin Diseases is looking for patients with various kinds of Ichthyosis willing to participate in research aimed at mapping the genes responsible for their disorder. Interested persons may contact: Dr. Sherri Bale National Institute of Arthritis, Musculoskeletal and Skin Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 402-2679 The orphan product Monolaurin (Glylorin) is being tested for treatment of Tay Syndrome. The product is manufactured by: Cellegy Pharmaceuticals 371 Bel Marin Keys, Suite 210 Novato, CA 94949 This disease entry is based upon medical information available through May 1993. 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 Tay Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Foundation for Ichthyosis and Related Skin Types, Inc. (F.I.R.S.T.) P.O. Box 20921 Raleigh, NC 27619-0921 (919) 782-5728 (800) 545-3286 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 For genetic information 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 GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION. THE ICHTHYOSES: M.L. Williams, et al.; Dermatol Clin (January 1987: issue 5(1)). Pp. 155-178. THE TAY SYNDROME (CONGENITAL ICHTHYOSIS WITH TRICHOTHIODYSTROPHY): R. Happle, et al.; Eur Journal Pediatr (January 1984: issue 141(3)). Pp. 147- 152. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1027-1039. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1058, 1285.