Information on the following diseases can be found in the Related Disorders section of this report:

• Balanitis Xerotica Obliterans
• Erythroplasia of Queyrat

Peyronie disease is characterized by dense infiltration of fibrous tissue into the soft tissue of the penis. These strands of fiber may also appear in patches of various sizes on the penis (plaques). Formation of the plaques limit the elasticity of the penis, and cause pain upon erection. In some cases, symptoms may eventually lead to impotence. In addition, the affected tissue may become calcified. Some individuals with Peyronie disease have been found to have deposits of excess collagen in connective tissue in other parts of the body as well. Symptoms may spontaneously resolve over long periods of time. Approximately four years is the average duration of the course of the disorder, although some symptoms may clear up more quickly.

In some cases, a condition known as Dupuytren's contracture has also been associated with Peyronie disease. Dupuytren's contracture is a rare connective tissue disorder characterized by fixation of the joints (e.g., proximal interphalangeal joints and metacarpophalangeal joints) of certain fingers in a permanently flexed position (joint contractures). Due to abnormal thickening and shortening of the bands of fibrous tissue beneath the skin of the palm (palmar fascia), a hardened nodule may develop, eventually forming an abnormal band of hardened (fibrotic) tissue. As a result, the fingers of the affected area begin to be "drawn in" toward the palm over several months or years and cannot be pulled back (contracture). (For more information on this disorder, choose "Dupuytren’s Contracture" as your search term in the Rare Disease Database.)

The exact cause of Peyronie disease is not known. Some researchers believe that the disorder may possibly be induced in some cases by the use of beta-adrenergic blocking drugs such as propranolol or practolol that are used for the control of high blood pressure. It may also be caused by recurrent injury limited to a very small section of the male external genitalia.

Other researchers believe it may be inherited as an autosomal dominant genetic trait.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Peyronie disease is a rare connective tissue disorder that affects adult males, usually during the fourth and fifth decades of life. Affected individuals have been diagnosed with this disorder ranging from 18 to 80 years of age. Peyronie disease was first described in 1743 by Francois de la Peyronie, court physician to King Louis XIV. Some studies have suggested that up to one percent of the male population in the United States may be affected to varying degrees.

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Symptoms of the following disorders can be similar to those of Peyronie disease. Comparisons may be useful for a differential diagnosis:

Balanitis xerotica obliterans is the result of chronic inflammation and is characterized by a hardened (indurated), pale area surrounding the end of the penis that may cause constriction. Treatment with antibacterial and anti-inflammatory drugs may be useful, but surgery may be required in some cases.

Erythroplasia of Queyrat is a premalignant lesion characterized by an area of reddish, velvety discoloration on the penis. Biopsy should be considered for diagnostic purposes. Treatment consists of local application of fluorouracil cream.

Diagnosis
A medical history and physical examination are usually sufficient for the diagnosis. The plaque formed can usually be felt upon examination and may be found on the upper (dorsal) or lower (ventral) side of the shaft of the penis.

Treatment
In some cases, treatment of Peyronie disease may not be required since symptoms may resolve spontaneously over a period averaging from one to four years. In other cases, the condition may persist and become disabling.

Conservative treatment protocols include vitamin E, or colchicine, or paraaminobenzoic acid. When plaque formation has stabilized, collagenase or interferon-alpha 2b injections may also improve lesions.

Skin grafts and/or radiation therapy have been found helpful in a few severe cases that failed to respond to drug treatment. Surgery to correct the curvature of the penis may be effective, although undesirable side effects, such as erectile dysfunction, may develop.

Oral medication and injected medication are the usual first steps in treatment. If the condition persists, after a period of time surgery may also be considered as a treatment option.

Surgical procedures may include removing tissue on the side of the penis opposite the plaque to correct bending, removing the plaque and grafting skin from other parts of the body to cover the area, and implanting small rods in the penis to help the individual achieve a satisfactory erection.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

The drug AA4500 has been granted orphan status by the U.S. Food and Drug Administration (FDA) (2005) as a possible treatment for Peyronie’s disease. The sponsors, Auxilium Pharmaceuticals of Malvern, Pa., and Cobra Biomanufacturing of Keele, UK, are planning Phase II and Phase III trials. For information, contact:

Auxilium Pharmaceuticals
Telephone: 1 484 321 5902
www.auxilium.com

Cobra Biomanufacturing
44 (0) 1782 714 181
www.cobrabio.com

The Henne Group, a medical and social research company located in San Francisco, is currently (2005) conducting clinical trials for men diagnosed with Peyronie disease. Research will be conducted in New York City, Chicago, New Orleans, Los Angeles, and San Francisco. This study examines the physical and psychological ramifications of this disorder in men diagnosed with Peyronie disease. For further information, call (877) 737-5782 ext. 210 (tollfree).

The drug collagenase (lyophilized) for injection received an orphan drug designation in 1996 for the experimental treatment of Peyronie disease. Collagenase is an enzyme that attacks the fibrous tissues. Clinical trials have shown some treatment success and collagenase is currently (2005) one of the non-surgical treatment options in some cases of Peyronie disease. For more information on collagenase (injectable) and collagenase (ointment), contact:

BioSpecifics Technologies Corp.
35 Wilbur Street
Lynbrook, NY 11563
Tel: 516-593-7000
Website: www.biospecifics.com

Several non-surgical treatments are prescribed to manage Peyronie disease. All of them are considered investigational and have shown various degrees of success. In addition to the above-mentioned collagenase, shock wave therapy has been prescribed as well as a range of oral and topical medications. Research continues on these investigational therapies.

A calcium channel-blocking drug known as verapamil has been used to treat individuals with Peyronie disease. The drug is injected directly into the affected area (intraplaque injection). Prescription Dispensing Laboratories of San Antonio, Texas, is investigating the use of a topical compound made from verapamil for the treatment of Peyronie disease.

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 171000; Last Update: 8/24/98.

TEXTBOOKS
Hellstrom WJG, Reddy SK. Peyronie Disease. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:25-26.

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:1833-34.

Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:1058-59.

REVIEW ARTICLES
Hellstrom WJ, Usta MF. Surgical approaches for advanced Peyronie’s disease patients. Int J Impot Res. 2003;15 Suppl 5:S121-24.

Levine LA. Review of current nonsurgical management of Peyronie’s disease. Int J Impot Res. 2003;15 Suppl 5:S113-20.

Levine LA, Greenfield JM. Establishing a standardized evaluation of the man with Peyronie’s disease. Int J Impot Res. 2003;15 Suppl 5:S103-12.

Mulhall JP. Expanding the paradigm for plaque development in Peyronie’s disease. Int J Impot Res. 2003;15 Suppl 5:S93-102.

Hellstrom WJ. History, epidemiology, and clinical presentation of Peyronie’s disease. Int J Impot Res. 2003;15 Suppl 5:S91-92.

JOURNAL ARTICLES
Hauck EW, Hauptmann A, Bschleipfer T, et al. Quesytionable efficacy of extracorporeal shock wave therapy for Peyronie’s disease: results of a prospective approach. J Urol. 2004;171:296-99.

Usta MF, Bivalacqua TJ, Sanabria J, et al. Patient and partner satisfaction and long-term results after surgical treatment for Peyronie’s disease. Urology. 2003;62:105-09.

Wilkins CJ, Sriprasad S, Sidhu PS. Colour Doppler ultrasound of the penis. Clin Radiol. 2003;58:514-23.

Levine LA, Estrada CR, Storm DW, et al. Peyronie diseases in younger men: characteristics and treatment results. J Androl. 2003;24:27-32.

Hellstrom WJ, et al. Peyronie's disease: etiology, medical, and surgical therapy. J Androl. 2000;21:347-54.

Montorsi F, et al. Transdermal electromotive multi-drug administration for Peyronies' disease: preliminary results. J Androl. 2000;21:85-90.

Riedl CR, et al. Iontophoresis for treatment of Peyronie's disease. J Urol. 2000;163:95-9.

FROM THE INTERNET
Peyronie’s Disease. National Kidney and Urologic Diseases Information Clearinghouse. December 2003. 5pp.
www.niddk.nih.gov/kudiseases/pubs/peyronie/index.htm

Laumann A. Peyronie Disease. emedicine. Last Updated: May 14, 2003. 21pp.
www.emedicine.com/derm/topic851.htm

Henegar C. Peyronie syndrome. orphanet. January 2004. 1p.
www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2870

Henegar C. Clinical signs of Peyronie disease. orphanet. nd. 1p.
www.orpha.net/data/patho/GB/peyronie-signs.pdf

Treatment of Peyronie’s Disease at Mayo Clinic in Rochester. Mayo Clinic. nd. 2pp.
www.mayoclinic.org/peyronies-rst/

Peyronie’s Disease. University of Maryland Medicine. Last reviewed on May 16,2003. 2pp.
www.umm.edu/urology-info/peyroni.htm