$Unique_ID{BRK03873} $Pretitle{} $Title{Ichthyosis, Peeling Skin Syndrome} $Subject{Ichthyosis, Peeling Skin Syndrome Continuing Skin Peeling Syndrome Disorder of Cornification 21 DOC 21 Ichthyosis Ichthyosis Congenita X-Linked Ichthyosis Psoriasis } $Volume{} $Log{} Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare Disorders, Inc. 575: Ichthyosis, Peeling Skin Syndrome ** IMPORTANT ** It is possible that the main title of this article (Peeling Skin 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 Continuing Skin Peeling Syndrome Disorder of Cornification 21 DOC 21 Information on the following disorders can be found in the Related Disorders section of this report: Ichthyosis Ichthyosis Congenita X-Linked Ichthyosis Psoriasis 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. Peeling Skin Syndrome is a rare hereditary disorder characterized by the periodic shedding of the outer layer of the skin. Redness, itching and other features may also occur. Symptoms Patients with Peeling Skin Syndrome have skin that is thicker than normal. The disorder is characterized by the periodic shedding of the outer layer of the skin (stratum corneum). Redness (erythroderma) and itching (pruritus) may also occur. In some cases, newly formed hair can be plucked more easily than normal. Some patients with Peeling Skin Syndrome have short stature. Causes Peeling Skin Syndrome is a form of Ichthyosis, which is a group of hereditary skin disorders. This form of Ichthyosis is transmitted by 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 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 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 25 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 Peeling Skin Syndrome affects males and females in equal numbers. It is a rare hereditary disorder. Related Disorders Symptoms of the following disorders may be similar to those of Peeling Skin Syndrome. Comparisons can be useful for a differential diagnosis: "Ichthyosis" 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.) Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) 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, choose "Ichthyosis Congenita" as your search term in the Rare Disease Database.) X-Linked Ichthyosis is an inherited skin disorder affecting males, caused by a deficiency of the enzyme steroid sulfatase. This enzyme deficiency leads to biochemical alterations in steroid hormone metabolism. Cholesterol sulfate may accumulate in the blood and skin. (For more information, 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 appropriate name as your search term for more information on that disorder in the Rare Disease Database.) Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots (papules) or plaques which usually appear on the scalp, elbows, or knees. (For more information, choose "Psoriasis" as your search term in the Rare Disease Database.) Therapies: Standard Peeling Skin Syndrome is 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. Therapies: Investigational Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate can be effective against symptoms of Peeling Skin 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 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. 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 Peeling Skin 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 Peeling Skin 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 For information on genetics and genetic counseling referrals, 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 METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1027-1039. CONTINUAL SKIN PEELING SYNDROME: AN ELECTRON MICROSCOPIC STUDY: A.K. Silverman, et al; Arch Dermatol (January 1986: issue 122(1)). Pp. 71-75. PEELING SKIN SYNDROME: A CLINICAL, ULTRASTRUCTURAL AND BIOCHEMICAL STUDY: British Journal Dermatol (January 1987: issue 116(1)). Pp. 117-125.