Degos Disease

Degos Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Degos Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Degos syndrome
  • Degos-Kohlmeier disease
  • Kohlmeier-Degos disease
  • malignant atrophic papulosis
  • MAP
  • papulosis atrophicans maligna

Disorder Subdivisions

  • None

General Discussion

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. In some individuals, Degos disease will be limited to the skin (benign cutaneous Degos disease); other individuals will also develop symptoms affecting other organ systems (systemic Degos disease). Systemic Degos disease is most frequently characterized by lesions in the small intestine, but other organs are also affected. Major symptoms may include abdominal pain, diarrhea, and/or weight loss. The systemic form of Degos disease can cause life-threatening complications such as perforated bowels leading to inflammation of the abdominal cavity (peritonitis). The exact cause of Degos disease is unknown.



Many researchers caution that statistics concerning Degos disease are inaccurate because many individuals go undiagnosed and most medical reports disproportionately discuss the more serious systemic form. It is important to note that some individuals only develop skin lesions (which are not associated with life-threatening complications) and do not go on to develop systemic Degos disease. Affected individuals should talk to their physicians and medical team about their specific case and associated symptoms.

Symptoms

In most cases, the initial symptoms of Degos disease are distinct skin lesions or a rash. Affected individuals develop small elevated bumps or spots (papules) of varying shape, usually on the trunk and upper arms and upper legs. Initially, only a few lesions may be apparent. Eventually, 10-40 lesions may slowly develop and, in some cases, hundreds may develop. The palms, soles, and face are usually spared. The lesions may sometimes itch (pruritis). The lesions start as reddish or pink bumps and eventually the center degenerates (atrophies) such that older lesions have a reddish border with porcelain-white, atrophic centers.



In certain individuals, blood vessels in areas other than the skin eventually become involved which can result in serious complications. The specific organ systems affected and the severity of associated symptoms can vary greatly. Individuals who develop systemic Degos disease will not develop all of the symptoms discussed below.



The most common area affected by Degos disease outside of the skin is the gastrointestinal tract. Gastrointestinal involvement can occur anywhere from a few weeks to a few years after the skin lesions develop. In extremely rare cases, gastrointestinal involvement may precede the development of skin lesions.



When lesions form in the small intestines, they may cause abdominal pain, cramping, nausea, vomiting, diarrhea, bloating, constipation, and the passing of blood with bowel movements or vomiting up of blood. Some affected individuals may experience weakness, fatigue and weight loss from malabsorption. The intestinal lesions can tear or rupture (perforate) causing the contents of the intestines to leak into the abdominal cavity. This results in inflammation of the membranes lining the abdominal cavity (peritonitis), a life-threatening complication.



Some individuals with systemic Degos disease experience involvement of the central nervous system (CNS). Symptoms of CNS involvement vary depending upon the specific areas affected, but may include headaches, dizziness, seizures, paralysis (palsy) of cranial nerves, weakness of one side of the body (hemiparesis), strokes, and damage to small areas of cells in the brain due to blocked arteries (cerebral infarcts.) Nonspecific neurological symptoms such as memory loss or altered sensations may also occur.



Additional organ systems that can become involved include the eyes, heart, lungs, and kidneys. When the eyes are affected, individuals may develop double vision (diplopia), drooping of the eyelids (ptosis), clouding of the lenses of the eyes (cataracts), atrophy of the optic nerve, swelling of the optic nerve (papilledema), and loss of part of the field of vision (visual-field defects).



When the heart is affected, individuals may develop weakness, shortness of breath upon exertion, and chest pain. In some cases, inflammation of the sac-like membrane surrounding the heart (pericardium) may occur. This may develop into permanent thickening, with resulting scarring and contracture of the pericardium (constrictive pericarditis).



Inflammation of the membranes lining the lungs (pleuritis) and fluid collection around the lungs (pleural effusion) has also been reported.

Causes

The exact cause of Degos disease is unknown. The disease process causes the cells lining the arteries to multiply, which contributes to the narrowing or blocking of arteries (arterial occlusion). Areas of severely damaged tissue (necrosis) may appear when narrowed or blocked arteries restrict blood flow (occlusive arteriopathy). The effects of Degos disease depend upon the location of the blocked arteries and necrotic lesions.



Many theories have been proposed as to what is the underlying cause of Degos disease. Three main theories include (1) viral infection, (2) defects in the body's blood clotting ability (primary disorder of coagulation) and (3) autoimmunity, whereby the body's immune system mistakenly attacks healthy tissue.



Some cases of Degos disease have run in families suggesting a genetic predisposition to the disorder may exist in these cases. The mode of inheritance of this familial variant of Degos disease is unknown. Interestingly, this form of Degos disease is usually limited to the skin (benign cutaneous Degos disease).

Affected Populations

Approximately 200 cases of Degos disease have been reported in the medical literature. The exact incidence of the disorder is unknown. Many researchers believe that Degos disease is under-diagnosed, making it difficult to determine its true frequency in the general population. Degos disease can affect individuals of any age, but is more common in young adults. In the reported cases, males have been affected more often than females. However, one study found that women developed the benign cutaneous form of Degos disease more often than men. .



The disorder was first described in the medical literature in 1941 and recognized as a distinct clinical entity by Dr. Degos in 1942.

Standard Therapies

Diagnosis

A diagnosis of Degos disease is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings (e.g., skin lesions), and microscopic examination of affected skin tissue that reveal distinctive changes to that tissue. Because most tests are normal, no specific laboratory test can be used to aid in the diagnosis of Degos disease.



Treatment

No specific therapy has been identified for Degos disease. Treatment is directed toward the specific symptoms that are apparent in each individual.



In diagnosed cases of Degos disease, examination of the gastrointestinal tract on a regular basis may detect intestinal perforation before symptoms of acute complications (i.e., peritonitis) appear. Some associated complications such as gastrointestinal bleeding or intestinal perforation may require surgical intervention.

Investigational Therapies

Drugs that inhibit the activity of platelets (specialized blood cells that clump together to form clots to stop bleeding at an injury site) have been used to treat individuals with Degos disease. These drugs are known as anti-platelet or anti-coagulation drugs. A combination of two of these drugs (i.e., aspirin and dipyridamole) has been reported to improve skin and eye lesions in two individuals who did not have systemic involvement.



A variety of medications such as those that suppress the body's immune system (immunosuppressives) have been tried for Degos disease with no positive effect. One case reported in the medical literature demonstrated improvement of skin lesions and gastrointestinal symptoms upon the administration of nicotine patches. Some researchers have advocated the use of intravenous immunoglobulin as a treatment for affected individuals. More research is necessary to determine the long-term safety and effective of such therapies in individuals with Degos disease.



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 web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Hollar C, Williford PL. Degos Disease. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:102.



Champion RH, Burton JL, Ebling FJG. Eds. Textbook of Dermatology. 5th ed. Blackwell Scientific Publications. London, UK; 1992:1951-1953.



JOURNAL ARTICLES

Scheinfeld N. Malignant atrophic papulosis. Clin Exp Dermatol. 2007;32:483-487.



Zhu KJ, Zhou Q, Lin AH, Lu Zm, Cheng H. The use of intravenous immunoglobulin in cutaneous and recurrent perforating intestinal Degos disease (malignant atrophic papulosis). Br J Dermatol. 2007;57:206-207.



Zamiri M, Jarrett P, Snow J. Benign cutaneous Degos disease. Int J Dermatol. 2005;44:654-656.



Scheinfeld N. Degos disease is probably a distinct entity: a review of clinical and laboratory evidence. J Am Acad Dermatol. 2005;52:375-376.



Amato C, Ferri R, Elia M, et al. Nervous system involvement in Degos disease. AJNR Am J Neuroradiol. 2005;26:646-649.



Kocheril SV, Blaivas M, Appleton BE, McCune WJ, Ike RW. Degos' disease mimicking vasculitis. Arthritis Rheum. 2004;51:498-500.



Kanekura T, Uchino Y, Kanzaki T. A case of malignant atrophic papulosis successfully treated with nicotine patches. Br J Dermatol. 2003;149:660-662.



Torrelo A, Sevilla J, Mediero IG, Candelas D, Zambrano A. Malignant atrophic papulosis in an infant. Br J Dermatol. 2002;146:916-918.



Harvell JD, Williford PL, White WL. Benign cutaneous Degos' disease. A case report with emphasis on histopathology as papules chronologically evolve. Am J Dermatopathol. 2001;23:116-123.



Farrel AM, Moss J, Costello C, et al. Benign cutaneous Degos' disease. Br J Dermatol. 1998;139:708-712.



FROM THE INTERNET

Scheinfeld NS. Degos Disease. Emedicine Journal, May 4 2007. Available at: http://www.emedicine.com/derm/topic931.htm Accessed on: December 22, 2007.



McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:602248; Last Update:03/17/2004. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602248 Accessed on: December 22, 2007.

Resources

Digestive Disease National Coalition

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Tel: (202)544-7497

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Email: ddnc@hmcw.org

Internet: http://www.ddnc.org



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

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Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Degos Patients' Support Network

28 Glenville Road

Rustington

West Sussex, BN16 2EA

United Kingdom

Tel: 441903787737

Fax: 441903772954

Email: judith@degosdisease.com

Internet: http://www.degosdisease.com



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

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