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

• Buerger's Disease
• Lichen Sclerosus et Atrophicus (LSA)
• Lymphomatoid Granulomatosis
• Scleroderma
• Vasculitis
• Vasculitis, Cutaneous Necrotizing

Major symptoms of Degos disease appear in two stages: skin lesions and lesions that affect other organs. Skin lesions begin as circular reddish bumps (papules) on the skin that heal and leave scars with a flat white center and a raised red edge. This stage of the disease may last for a period of time ranging from weeks to years. A few cases have been reported with no involvement beyond the skin lesion stage (benign cutaneous Degos disease).

The blockage of arteries that characterizes Degos disease restricts blood flow and leads to severe tissue damage (necrosis). Multiple areas of necrosis may occur in connective tissues near skin lesions and in other organs.

The gastrointestinal tract is usually involved in the second stage of Degos disease. Lesions frequently develop on the walls of the small intestine. Gastrointestinal symptoms include abdominal pain, diarrhea, and weight loss.

The intestinal lesions of Degos disease frequently ulcerate and break through the intestine wall (perforation). Inflammation of the lining of the abdominal cavity (peritonitis) may occur if the intestine wall is perforated. Major symptoms of peritonitis include abdominal pain and tenderness, constipation, vomiting, and moderate fever. Peritonitis is a rapidly progressive life-threatening complication of Degos disease.

In approximately 20% of cases, Degos disease affects the central nervous system. Small areas of cells in the brain may be damaged as a result of arteries becoming blocked (infarcts). Major neurological symptoms may include mental dysfunction, abnormal sensory sensations such as prickling or burning (paraesthesis), weakness of the limbs on one side, and/or other motor abnormalities. Other neurological symptoms may include drooping upper eyelids (ptosis), paralysis of the eye muscles (ophthalmoplegia) and/or an abnormal increase in the amount of time an individual spends sleeping (obtundation).

In a few cases of Degos disease, white patches (plaque) have appeared on the membrane covering the eye (bulbar conjunctiva). Lesions have also occurred on the surface of the eye (chorioretinal lesions).
.

The exact cause of Degos disease is not known. 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.

Currently, three theories exist about the origin of the disease. Some researchers believe it to be a malfunction of the blood coagulation system, others support the thesis that it results from breakdowns in the immune and immunosuppresive systems, and a third group believes it may result from the action of a virus, as yet unknown.

In addition, some cases of Degos disease have run in families (familial), suggesting that hereditary factors may play a role in the development of the disorder in these cases.
.

Degos disease is a rare disorder but one with very distinctive characteristics. Three men are affected for every woman (3:1). Primary symptoms (skin lesions) usually first appear during early adulthood. However, there have been a few reported cases of Degos disease affecting infants and children.
.

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

Vasculitis, an inflammatory disorder of the blood vessels, may occur alone or in conjunction with allergic and rheumatic diseases. Inflammation of the vascular walls constricts the blood vessel and may cause a deficiency of blood supply to an area (ischemia), wasting of tissue (necrosis), blood clots (thrombosis), and, rarely, a dilated area on the blood vessel (aneurysm). Any size vessel and any part of the vascular system may be affected. Because of the varied situations in which vasculitis can arise, symptoms and signs are relative to the system involved. Degos Disease is a systemic form of vasculitis that primarily affects the skin and small intestine. (For more information on this disorder, choose "Vasculitis" as your search term in the Rare Disease Database.)

Cutaneous Necrotizing Vasculitis is an inflammatory disorder of the blood vessels which usually also affects the skin. This disorder may occur alone or in conjunction with allergic, infectious, or rheumatic diseases. Cutaneous Necrotizing Vasculitis is characterized by inflammation of the blood vessel walls and skin lesions that may be flat and red (macules), nodules, or hemorrhages under the skin (purpura). Skin symptoms may occur only once or at regular intervals, and usually last several weeks. The lesions characteristic of Cutaneous Necrotizing Vasculitis usually affect only the skin, while in Degos Disease lesions may affect other organs (i.e., small intestine) and cause associated complications. (For more information on this disorder, choose "Cutaneous Necrotizing Vasculitis" as your search term in the Rare Disease Database.)

Buerger's Disease is an inflammatory disorder that causes narrowing or blockage (occlusion) in the peripheral blood vessels. Symptoms may include severe pain, Raynaud's phenomenon of pallor and bluish discoloration (cyanosis) in the fingers and/or toes, venous thrombosis, and/or ulcerations. (For more information on this disorder, choose "Buerger" as your search term in the Rare Disease Database.)

Lichen Sclerosus et Atrophicus (LSA) is a chronic dermatological disease characterized by the progressive development of white, atrophic skin lesions of the neck, arms, trunk, vulva, and other areas. There may be a violet color at the borders. (For more information on this disorder, choose "Lichen Sclerosus et Atrophicus" as your search term in the Rare Disease Database.)

Lymphomatoid Granulomatosis is a vascular disease that is rare and progressive. This disorder is characterized by nodular lesions that infiltrate and destroy veins and arteries, especially in the lungs. The condition can be benign or malignant. The lesions may occur in the lungs, kidneys, central nervous system, or skin. Flat colored spots (macules) on the skin and/or small knots under the skin (nodules) may occur when the skin is affected. (For more information on this disorder, choose "Lymphomatoid Granulomatosis" as your search term in the Rare Disease Database.)

Scleroderma is a connective tissue disorder characterized by skin thickening, Raynaud's phenomenon of pallor and bluish discoloration (cyanosis) in the fingers and/or toes, and a range of systemic disorders. Characteristic skin lesions may not appear as the first symptoms. Common features include morning stiffness, fatigue, weight loss, and joint pain (arthralgia). (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database.)

Treatment of Degos disease is supportive, symptomatic and palliative. 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.

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

.

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:602248; Last Update:6/17/99.

TEXTBOOKS
Sherertz ER, et al. Skin lesions associated with gastrointestinal diseases. In: Yamada, T, et al., eds. Textbook of Gastroenterology. Philadelphia, PA: J.B. Lippincott Company; 1995:959.

Champion RH, et al., eds. Textbook of Dermatology. Oxford, Engl: Blackwell Scientific Publications; 1992:1951-53.

Sergio I. Magalini, et al., eds. Dictionary of Medical Syndromes. 4th ed. Lippincott-Raven Publishers, 1997:461.

REVIEW ARTICLES
Atchabahian A, et al. Small bowel fistulae in Degos' disease: a case report and literature review. Am J Gastroenterol. 1996;91:2208-11.

Assier-Bonnet H, et al. [Degos disease]. Ann Dermatol Venereol. 1997;124:272-79. (French)

Asherson RA, et al. Antiphospholipid syndrome. J Invest Dermatol. 1993;100:21S-27S.

JOURNAL ARTICLES
Ojeda Cuchillero RM, et al. Benign cutaneous Degos' disease. Clin Exp Dermatol. 2003;28:145-47.

Bogenrieder T, et al. Benign Degos' disease developing during pregnancy and followed for 10 years. Acta Derm Venereol. 2002;82:284-87.

Melnik B, et al. Malignant atrophic papulosis (Kohlmeier-Degos disease). Failure to respond to interferon alpha-2a, pentoxifylline and aspirin. Hautarzt. 2002;53:618-21.

Torrelo A, et al. Malignant atrophic papulosis in an infant. Br J Dermatol. 2002;146:916-18.

Vicktor C, et al. Malignant atrophic papulosis (Kohlmeier-Degos disease): diagnosis, therapy and course. Hautarzt. 2001;52:734-37.

Chave TA, et al. Malignant atrophic papulosis (Degos' disease): clinicopathological correlations. J Eur Acad Dermatol Venereol. 2001;15:43-45.

Harvell JD, et al. Benign cutaneous Degos' disease: a case report with emphasis on histopathology as papules chronologically evolve. Am J Dermatopathol. 2001;23:116-23.

Guven FO, et al. Degos' disease. Int J Dermatol. 2000;39:361-2.

Powell J, et al. Benign familial Degos disease worsening under immunosuppression. Br J Dermatol. 1999;141:524-27.

Lankisch MR, et al. Acute abdominal pain as a leading symptom for Degos' disease (malignant atrophic papulosis). Am J Gastroenterol. 1999;94:1098-99.

Cliff S. et al. Dowling Degos disease in association with multiple seborrhoeic warts. Clin Exp Dermatol. 1997;22:34-36.

Katz SK, et al. Malignant atrophic papulosis (Degos' disease) involving three generations of a family. J Am Acad Dermatol. 1997;37(3 Pt 1):480-84.

Yoshikawa H, et al. Degos' disease: radiological and immunological aspects. Acta Neurol Scand. 1996;94:353-56.