$Unique_ID{BRK04075} $Pretitle{} $Title{Pachydermoperiostosis} $Subject{Pachydermoperiostosis Hypertrophic Osteoarthropathy Pachydermoperiostosis Syndrome Touraine-Solente-Gole Syndrome Rosenfeld-Kloepfers Syndrome Acromegaly Hypertrophic Pulmonary Osteoarthropathy} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 927: Pachydermoperiostosis ** IMPORTANT ** It is possible that the main title of the article (Pachydermoperiostosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Hypertrophic Osteoarthropathy Pachydermoperiostosis Syndrome Touraine-Solente-Gole Syndrome Disorder Subdivision: Rosenfeld-Kloepfers Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Acromegaly Hypertrophic Pulmonary Osteoarthropathy 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. Pachydermoperiostosis is a rare disorder thought to be inherited as an autosomal dominant trait. This disorder typically appears during childhood or adolescence and progresses slowly for about ten years. Symptoms of Pachydermoperiostosis may be enlargement of the fingers and toes (clubbing), a condition in which there is a fibrous covering on the ends of the long bones (periostosis), coarse facial features, increased bulk of the skin on the scalp forming folds, depressions or furrows (cutis verticis gyrata), and/or excessive sweating of the hands and feet. Symptoms Patients with Pachydermoperiostosis typically have coarse facial features with oily, thick, grooving skin on the face. Joint pain, an abnormal enlargement of the tips of the fingers and toes (clubbing), and excessive sweating of the hands and feet (hyperhidrosis) may also be present. New fibrous bone growth (periostosis), especially of the ends of the long bones, is present in patients with Pachydermoperiostosis. A condition in which the skin of the scalp has excess bulk causing depressions or grooves (cutis verticis gyrata) typically becomes apparent during the teen years. Other symptoms found in some patients with Pachydermoperiostosis may be: swelling or pain of the large joints; drooping eyelids (ptosis); a long-term inflammatory skin disease that causes dry or moist, scales and a yellowish crust (seborrheic dermatitis); disorders such as ulcers; and/or swelling of hair follicles related to large open pores of the skin. The symptoms in patients with Pachydermoperiostosis vary in severity with males typically having a more severe form of the disorder. A variant of Pachydermoperiostosis is called Rosenfeld-Kloepfer Syndrome. This form of the disorder is characterized by enlarged bones of the jaw, and very large hands, feet, nose, lips and tongue. Other features of this form of the disorder are: a prominent upper forehead, grooves or depressions in the skin of the scalp (cutis verticis gyrata) and a dense white opacity in the corner of the eye (corneal leukoma). Causes Pachydermoperiostosis is thought to be inherited as an autosomal dominant trait with varying severity. 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 dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Pachydermoperiostosis is a rare disorder that affects males more often than females with a ratio of seven to one. This percentage may not be totally valid since females often have mild symptoms with the fibrous bone growth (periostosis) not being detected unless an X-ray is taken. Related Disorders Symptoms of the following disorders can be similar to those of Pachydermoperiostosis. Comparisons may be useful for a differential diagnosis: Acromegaly is a slowly progressive, chronic metabolic disorder in which an excess of growth hormone causes abnormal enlargement of various tissues of the body and unusual height. Most conspicuously affected are the arms, legs, jaws and face. The enlargement of soft tissue, especially of the heart, is a serious feature of this disorder. High blood pressure may be another serious consequence of Acromegaly. (For more information on this disorder choose "Acromegaly" as your search term in the Rare Disease Database). Hypertrophic Pulmonary Osteoarthropathy (Bamberger-Marie Disease) is a rare disorder in which there is expansion of the ends or the entire shaft of the long bones and often abnormal enlargement of the fingers and toes (clubbing). This disorder occurs in chronic pulmonary disease, heart disease and occasionally in other acute and chronic disorders. Therapies: Standard Patients with Pachydermoperiostosis may have improvement in joint pain and swelling when a vagotomy is performed. A vagotomy is a surgical procedure in which certain branches of the vagus nerve (a nerve essential for the functioning of many body parts) are cut along with stomach surgery, to lessen the amount of gastric acid released and thus reduce the chance of getting a gastric ulcer. Plastic surgery may be performed to improve facial appearance. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through August 1992. 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 Pachydermoperiostosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS 9000 Rockville Pike Bethesda, MD 20892 (301) 395-4484 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. 702. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 488. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1349-50.