$Unique_ID{BRK03896} $Pretitle{} $Title{Keratitis Ichthyosis Deafness Syndrome} $Subject{Keratitis Ichthyosis Deafness Syndrome Disorder of Cornification 15 Keratitis Deafness Type DOC 15 Keratitis Deafness Type Ichthyosiform Erythroderma Corneal Involvement Deafness KID Syndrome Ichthyosis Darier Disease Keratosis Follicularis Ichthyosis Congenita Ichthyosis X-Linked } $Volume{} $Log{} Copyright (C) 1992, 1993 National Organization for Rare Disorders, Inc. 884: Keratitis Ichthyosis Deafness Syndrome ** IMPORTANT ** It is possible that the main title of the article (Keratitis Ichthyosis Deafness Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivision covered by this article. Synonyms Disorder of Cornification 15 (Keratitis Deafness Type) DOC 15 (Keratitis Deafness Type) Ichthyosiform Erythroderma, Corneal Involvement, Deafness KID Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Ichthyosis Darier Disease (Keratosis Follicularis) Ichthyosis Congenita Ichthyosis, X-Linked 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. Keratitis Ichthyosis Deafness (KID) Syndrome is a very rare disorder, that occur most often for no apparent reason but has also been linked to an autosomal recessive trait. It is characterized by inflammation of the eye's cornea (keratitis), fixed hardened skin scales (plaques) on the extremities and face, thick hardened skin on the palms of the hands and the soles of the feet, and deafness. Symptoms Keratitis Ichthyosis Deafness Syndrome is present at birth. The cornea of the eye is usually inflamed. A red, diffusely thickened skin rash is usually shed during the first week of life. Fixed, hardened (keratotic) skin plaques, often with a red base, usually occur on the extremities and face, producing an aged or lion-like appearance. Some patients have thickened and hardened skin (hyperkeratosis) and prominent hair sacs (follicles) over much of the body surface. In others, the involvement may be limited to the face and extremities. Overdevelopment of the outer layer of skin (hyperkeratosis) around the hair follicles on the scalp may result in significant baldness. The nails may be abnormal or underdeveloped, and teeth may be small and susceptible to decay. Hardening and thickening of the outer skin layer of the palms of the hands and the soles of the feet (keratoderma palmoplantare) makes them appear pebbly. Some patients develop recurrent skin infections, including candidiasis, multiple abscesses and uncommon granulomatous fungus infections. Squamous cell skin cancers may occur in some cases. Nerve deafness, which may be severe in some cases, usually occurs. Eye involvement includes inflammation of the cornea and the membranes of the eye (conjunctiva), which may progress to abnormal formation of tiny vessels in the cornea. Growth may be impaired in patients with KID Syndrome. Causes Keratitis Ichthyosis Deafness Syndrome occurs for no apparent reason in the majority of cases. Several cases of this disorder have been linked to an autosomal recessive 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 recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait 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 not show 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 Keratitis Ichthyosis Deafness Syndrome appears to affect females slightly more often then males. This syndrome usually starts during infancy. However, symptoms may begin as late as the second decade of life. Related Disorders Symptoms of the following disorders can be similar to those of Keratitis Ichthyosis Deafness Syndrome. Comparisons may be useful for a differential diagnosis: "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 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 on this disorder choose "Ichthyosis" as your search term in the Rare Disease Database). Darier Disease is a gradually progressive, hereditary skin disorder. It is characterized by elevated spots (papules) on the scalp, forehead, face, neck, area behind the ears, and middle of the back. These spots may become darker and may be covered with grey/brown scales or crusts (ichthyosis). (For more information on this disorder choose "Darier Disease" as your search term in the Rare Disease Database). Ichthyosis Congenita is an inherited skin disorder. It is characterized by generalized, abnormally red, dry and rough skin, with large, coarse scales. Itchiness (pruritus) usually also develops. Skin on the palms of the hands and soles of the feet is abnormally thick. (For more information on this disorder choose "Ichthyosis Congenita" as your search term in the Rare Disease Database). X-Linked Ichthyosis is an inherited skin disorder affecting males. It is caused by a deficiency of the enzyme steroid sulfatase. This enzyme deficiency leads to biochemical alterations in the steroid sex hormone metabolism, including diminished estrogen production during fetal development. Cholesterol sulfate accumulates in blood, skin, and other tissues after birth, causing scaliness and abnormalities of the eye's cornea. Levels of sex hormones do not appear to be affected. (For more information on this disorder choose "X-Linked Ichthyosis" as your search term in the Rare Disease Database). Other forms of Ichthyosis include Sjogren-Larsson Syndrome, Netherton Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier Disease, Conradi-Hunermann Syndrome, Chanarin-Dorfman Syndrome, and Epidermolytic Hyperkeratosis. (Choose the proper name as your search term in the Rare Disease Database). Therapies: Standard Dermatologic symptoms of KID 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. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Drugs derived from vitamin A (retinoids) such as tretinoin, motretinide, and etretinate may also be effective against dermatologic symptoms of KID Syndrome, but can cause toxic effects on the bones in some cases. A synthetic derivative of Vitamin A, isotretinoin, when taken by pregnant women can cause severe defects to the fetus. These Vitamin A compounds have not yet been approved by the Food and Drug Administration (FDA) for treatment of Ichthyosis. 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 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 Keratitis Ichthyosis Deafness Syndrome. The product is manufactured by: Cellegy Pharmaceuticals, Inc. 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 Keratitis Ichthyosis Deafness Syndrome National Organization for Rare Disorders 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.) 3640 Grand Avenue, Suite 2 Oakland, CA 94610 (415) 763-9839 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 National Eye Institute (NEI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Eye Research Institute of Retina Foundation 20 Staniford St. Boston, MA 02114 (617) 742-3140 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. 1272. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 935-6. GENETICALLY TRANSMITTED, GENERALIZATION DISORDERS OF CORNIFICATION. THE ICHTHYOSES: M.L. Williams, et al.; Dermatol Clin (January 1987, issue 5(1)). Pp. 155-178 THERAPEUTIC ACTIVITY OF LACTATE 12% LOTION IN THE TREATMENT OF ICHTHYOSIS. ACTIVE VERSUS VEHICLE AND ACTIVE VERSUS A PETROLEUM CREAM: M. Buxman, et al.; Journal Am Acad Dermatol (December 1986, issue 15(6)). Pp. 1253-58. KID SYNDROME (KERATITIS, ICHTHYOSIS, AND DEAFNESS) AND CHRONIC MUCOCUTANEOUS CANDIDIASIS: CASE REPORT AND REVIEW OF THE LITERATURE: M. Harms, et al,; Pediatr Dermatol (July 1984, issue 2(1)). Pp. 1-7.