ALTERNATE NAMES

Atrophic Papulosis, Malignant; Degos-Kohlmeier Disease; Degos’s Malignant Atrophic Papulosis; Degos Syndrome; Kohlmeier Disease; Kohlmeier-Degos Disease; Malignant Atrophic Papulosis; MAP; Papulosis Atrophican Maligna

DESCRIPTION

Degos disease is a rare non-inflammatory disease of the blood vessels that is characterized by a narrowing and blockage in small and medium sized arteries, leading to ischemia and tissue infarction in the involved organ systems. Skin lesions are the characteristic feature of Degos disease. Blood vessels that supply blood to the skin, gastrointestinal tract, central nervous system, and organs such as the eyes, kidneys, heart, and liver can also be involved. Immune system dysregulation may be a key driver in Degos disease development.

The disease occurs in two stages. Stage 1, which involves skin lesions that may last for weeks to years and Stage 2, which involves lesions of the intestines and other organs.

In the first stage, individuals will notice red lesions that leave scars with white centers. These lesions can result in bowel ischemia (reduced blood flow to intestines), chronic skin lesions, ocular lesions, strokes, spinal lesions, mononeuritis multiplex (inflammation of several separate nerves), epilepsy, headaches, or cognitive disorders.

In the second stage, the more lethal multi-organ variant form, individuals begin to complain of abdominal pain, diarrhea, and/or weight loss. The intestinal lesions are known to break through the wall of the bowels (perforation), thus leading to a potentially life threatening complication (sepsis). At Stage 2, the disease is usually fatal within 2 or 3 years. The disorder usually occurs in young adults, mostly affecting men. The cause of this disease is unknown.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of systemic Degos disease is made by:

• •

  Physical examination;

• •

  Identification of characteristic findings (e.g. skin lesions);

• •

  Computed tomography (CT)/magnetic resonance imaging (MRI) scan; and

• •

  Microscopic examination of affected skin tissue that reveals distinctive changes to the tissue.

Physical findings: Degos disease is characterized by:

• •

  Erythematous pink or red papules on the skin (skin lesions);

• •

  Lesions in the gastrointestinal tract when there is gastric involvement; and

• •

  Lesions with central porcelain-white atrophy and surrounding teleangiectatic rim.

ICD-9: 447.8

ICD-10: I77.89

TREATMENT

Treatment options are limited, consisting mainly of antiplatelet drugs, anticoagulants or immunosuppressants. The effect of treatment is limited to case reports.

PROGRESSION

Systemic Degos disease is frequently fatal within 2-3 years from the onset of systemic involvement.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Dermatology consultation that evaluates the ability of the individual to adjust to the reduced oxygen carrying capacity of blood;

• •

  Laboratory tests measuring blood composition; and

• •

  MRI/CT scans.

Suggested Listings for Evaluation:

LISTING

REMARKS

Meets

Equals

14.03

Degos disease is not a vasculitis, it is an occlusive arteriopathy. Therefore, it cannot meet listing 14.03. The relative effectiveness of eculizumab, a hematologic medication which blocks complement component 5 (C5) suggests it may be a hematologic/endothelial/clotting disease. Along with the skin, organ and body systems most commonly affected include gastrointestinal, neurologic, cardiac, and pulmonary. Constitutional symptoms or signs often include fatigue, persistent fever, and involuntary weight loss.

114.03

The relative effectiveness of eculizumab, a hematologic medication which blocks complement component 5 (C5) suggests it may be a hematologic/endothelial/clotting disease. Along with the skin, organ and body systems most commonly affected include gastrointestinal, neurologic, cardiac, and pulmonary. Constitutional symptoms or signs often include fatigue, persistent fever, and involuntary weight loss.