$Unique_ID{BRK03863} $Pretitle{} $Title{Ichthyosis, Chanarin Dorfman Syndrome} $Subject{Ichthyosis, Chanarin Dorfman Syndrome Chanarin Dorfman Disease Disorder of Cornification 12 (Neutral Lipid Storage Type) DOC 12 (Neutral Lipid Storage Type) Dorfman Chanarin Syndrome Ichthyosiform Erythroderma with Leukocyte Vacuolation Ichthyotic Neutral Lipid Storage Disease Neutral Lipid Storage Disease Triglyceride Storage Disease, with Impaired Long-Chain Fatty Acid Oxidation Ichthyosis Ichthyosis Congenita CHILD Syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects; Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, especially Absence Deformity of Limbs)} $Volume{} $Log{} Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare Disorders, Inc. 548: Ichthyosis, Chanarin Dorfman Syndrome ** IMPORTANT ** It is possible the main title of the article (Chanarin-Dorfman Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Chanarin Dorfman Disease Disorder of Cornification 12 (Neutral Lipid Storage Type) DOC 12 (Neutral Lipid Storage Type) Dorfman Chanarin Syndrome Ichthyosiform Erythroderma with Leukocyte Vacuolation Ichthyotic Neutral Lipid Storage Disease Neutral Lipid Storage Disease Triglyceride Storage Disease, with Impaired Long-Chain Fatty Acid Oxidation Information on the following disorders can be found in the Related Disorders section of this report: Ichthyosis Ichthyosis Congenita CHILD Syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects; Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, especially Absence Deformity of Limbs). 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. Chanarin Dorfman Syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids). Symptoms Chanarin Dorfman Syndrome is characterized by moderately red, itchy, dry skin and other skin changes (eczematous dermatitis). Prominent fat (lipid) droplets appear in most circulating white blood cells. Lipid droplets are also present in numerous other cells, including those of the skin and the ducts of sweat glands. Degeneration of the muscles may be identified through neurologic testing, and muscle enzyme levels in the blood are elevated. The liver biopsy samples of all patients have shown severe fatty change, but this may not be reflected in liver function studies. Both nerve deafness and cataracts are present in some patients with Chanarin Dorfman Syndrome. Abnormally slow development and growth may also be symptoms of this disorder. Causes Chanarin Dorfman Syndrome is a hereditary disorder transmitted by autosomal recessive genes. The metabolic defect causing this disorder is not well understood. (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 Chanarin Dorfman Syndrome is a very rare disorder which tends to affect persons of Middle Eastern or Mediterranean descent. It affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Chanarin Dorfman 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 (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.) CHILD Syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects; Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, especially Absence Deformity of Limbs) is a rare, hereditary disorder characterized by scaly red skin (ichthyosis) and deformities of the limbs on one side of the body. It occurs much more frequently in males than in females. Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Desquamation of Newborn) is an inherited skin disorder. It is characterized by generalized, abnormally red (erythroderma), dry and rough skin with large, coarse scales. Itchiness 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.) 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 in the Rare Disease Database). Therapies: Standard Diagnosis of Chanarin Dorfman Syndrome can be made when a smear of blood taken from a finger, toe, heel, or ear shows fat droplets in certain white blood cells. Dermatologic symptoms 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 Chanarin Dorfman 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. Treatment of other features of Chanarin Dorfman Syndrome is symptomatic and supportive. 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 Chanarin Dorfman 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 Chanarin Dorfman Syndrome 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 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. 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. 1253-1258. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A McKusick; Johns Hopkins University Press, 1986. Pp. 1285-1286. DORFMAN-CHANARIN SYNDROME. A CASE REPORT AND A REVIEW: A. Srebrnik, et al.; Journal Am Acad Dermatol (November 1987: issue 17(5 Pt 1)). Pp. 801- 808.