$Unique_ID{BRK03640} $Pretitle{} $Title{Cutis Laxa} $Subject{Cutis Laxa Dermatolysis Chalazodermia Dermatomegaly Chalasodermia Dermatochalasia Congenital Cutis Laxa Syndrome Acquired Cutis Laxa Syndrome} $Volume{} $Log{} Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 175: Cutis Laxa ** IMPORTANT ** It is possible the main title of the article (Cutis Laxa) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dermatolysis Chalazodermia Dermatomegaly Chalasodermia Dermatochalasia DISORDER SUBDIVISIONS Congenital Cutis Laxa Syndrome Acquired Cutis Laxa 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 personal physician and/or the agencies listed in the "Resources" section of this report. Cutis Laxa is a rare connective tissue disorder characterized by lax skin hanging in loose folds which may be thickened and is often pigmented. There are two forms of the syndrome. The congenital form may be either apparent at birth or within the first few months of life. This form may be inherited as either an autosomal dominant or as an autosomal recessive condition. The acquired form of Cutis Laxa appears at puberty or later, and occurs only rarely. Symptoms The congenital form of Cutis Laxa which is present at birth or is noticed during the first months of life, is frequently preceded by episodes of edema (swelling). It is characterized by a loss of elasticity of the skin and the formation of skin folds. This occurs wherever the skin is normally loose and hanging, but is particularly noticeable on the face. Children afflicted with the disorder often have a mournful or Churchillian face due to the lax skin folds. The disorder progresses during infancy and becomes less evident after puberty. While adult males may exhibit infantile genitalia and impotence, the general development of patients afflicted with the disorder is usually normal. In severe cases, there may be progressive pulmonary emphysema resulting in cor pulmonale (enlargement of the right ventricle of the heart). Occasionally, there may be hernias or the presence of diverticula in the GI tract. The acquired form of Cutis Laxa is clinically distinct from the congenital form. The disease may develop insidiously and it may appear at puberty or later in life, often preceded by episodes of angioedema or inflammation. The skin changes represented by folding are slow to develop. These folds may be either generalized or limited to the face, body or neck. There is vascular fragility and purpura (purplish reddish spots on the skin). Aortic rupture, pulmonary complications, respiratory insufficiency due to emphysema or gastroenteric manifestations may also occur. It may also develop following a severe illness involving fever, polyserositis, and erythema multiforme, usually in children or adolescents. Causes The cause of Cutis Laxa Syndromes is unknown. It may be inherited as either an autosomal recessive (more malignant forms) or incomplete autosomal dominant trait. Diagnostic distinction from the acquired form is only clinical and the etiologic distinction between the two forms is not clear. 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. 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.) The congenital form of the disorder is more severe when emphysema is present. The disorder also appears to be more severe when it is inherited as an autosomal recessive trait. When the disease is inherited as an autosomal dominant trait, frequently the only problem associated with the disorder is cosmetic. The severity of the acquired form of Cutis Laxa Syndrome is determined by the intensity, progression and pulmonary complications of the disorder. Therapies: Standard While there is no specific therapy for patients with Cutis Laxa Syndromes, plastic surgery usually considerably improves the appearance of individuals with the inherited form, but may be less successful in acquired Cutis Laxa. Appropriate treatment of cardiorespiratory complications is necessary when they occur. Therapies: Investigational This disease entry is based upon medical information available through January 1990. 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 Cutis Laxa, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 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. P. 2100.