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| Disease found: | Degos Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Small artery occlusion leading to porcelain-white skin lesions in cutaneous Degos disease, and small intestine lesions that can perforate in systemic Degos disease (more info) |
| Signs and Symptoms: | Skin lesions on the trunk, upper arms, and legs - develop over time from small elevated papules to depressed porcelain-white lesions with a red rim; intestinal lesions in the systemic form can lead to abdominal pain, nausea, vomiting, cramping, diarrhea, and blood in the stool |
| Diagnosis: | Identification of the characteristic skin lesions - mature lesions have white centers and pink/red borders due to dilated blood vessels, and are primarily located on the chest, back and upper extremities. Biopsy of affected tissue reveals necrosis (tissue cell death due to lack of blood supply) and blockage of small arterioles. |
| Treatment: | Some literature suggests anti-platelet therapy even in skin-only disease, although evidence of benefit is sparse. All individuals with skin-only disease should be educated as to signs of development of systemic disease. C5 inhibitors have been lifesaving in multiple individuals with GI Degos, although due to the extreme rarity of the disease, no double-blind placebo-controlled study of this therapy has been performed. |
| Clinical Management: | Baseline chest x-ray, echocardiogram, EKG, ophthalmologic examination and brain MRI, and baseline laparoscopy is the most effective means of establishing or ruling out the presence of GI Degos |
| Referral: | Dermatologist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Degos disease patients with CNS involvement needed for trial of a JAK-STAT inhibitor |