$Unique_ID{BRK03860} $Pretitle{} $Title{Ichthyosis Congenita} $Subject{Ichthyosis Congenita Collodion Baby Dry Skin Congenital Ichthyosiform Erythroderma Lamellar Ichthyosis Non-bullous Congenital Ichthyosiform Erythroderma Xeroderma Desquamation of Newborn } $Volume{} $Log{} Copyright (C) 1986, 1987, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 241: Ichthyosis Congenita ** IMPORTANT ** It is possible the main title of the article (Ichthyosis Congenita) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Collodion Baby Dry Skin Congenital Ichthyosiform Erythroderma Lamellar Ichthyosis Non-bullous Congenital Ichthyosiform Erythroderma Xeroderma Desquamation of Newborn 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. Ichthyosis Congenita is an inherited skin disorder. It is characterized by generalized, abnormally red (erythroderma), dry and rough skin. Symptoms Ichthyosis Congenita is characterized by generalized abnormal red, dry and rough skin. Large, coarse scales also occur on the skin, causing itchiness. These characteristics appear over most of the body. Skin on the palms of the hands and soles of the feet is abnormally thick. Causes Ichthyosis Congenita is an autosomal recessive inherited disorder. 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. Some forms of Ichthyosis Congenita may be inherited through sex-linked genes. The gene for Sex-Linked Ichthyosis is located on the short arm of the male sex chromosome X. This has presented geneticists with a useful probe for this form of the disorder. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Affected Population Onset of Ichthyosis Congenita is before birth or soon after. Related Disorders Ichthyosis Vulgaris is an autosomal dominant inherited disorder with onset in childhood. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Fine scales usually occur on the back and on surfaces of muscles that extend a joint (extensors). There are usually many markings on the palms and soles of the feet. X-linked Ichthyosis is an inherited disorder that occurs only in males, with onset at birth or during infancy. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) It is characterized by large, dark, sometimes fine scales which are prominent on the neck and trunk. Skin on the palms and soles of the feet is normal. Opacities in the cornea of the eye occur in this form of Ichthyosis. Epidermolytical Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma is an autosomal dominant inherited disorder with onset at birth. It is characterized by thick warty scales on most of the body, especially in the creases of bent (flexural) skin surfaces. Blisters may also occur. Therapies: Standard Ichthyosis Congenita is treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly, especially after bathing while the skin is still moist. A particularly effective ointment is salicylic acid in a gel composed of propylene glycol, ethyl alcohol, hydroxypropylene cellulose and water. The skin should be covered at night with an airtight and waterproof dressing when this ointment is used. Ointments such as fifty percent propylene glycol in water, hydrophilic petroleum jelly and water, or cold cream are also helpful. Tretinoin (vitamin A acid; retinoic acid) cream also can be effective as well in treating Ichthyosis Congenita. Therapies: Investigational Tests are being performed with simple local application of cholesterol and of drugs to hydrolyze the cholesterol sulfate bond. More research is needed before the effectiveness of this treatment can be determined. 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 Ichthyosis Congenita. 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 Ichthyosis Congenita, 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 The Eczema Association for Science and Education 1221 SW Yamhill, #303 Portland OR, 97205 (503) 228-4430 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 THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 2294-5. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2326-9.