Skip to Main Content

At a glance

It is a very rare form of systemic occlusive arteriopathy involving small- and medium-size arteries and characterized by a typical two-stage evolution. The disease affects vessels of the dermis causing an erythematous aspect with dome-shaped papules that develop a central area of necrosis and leave a porcelain-like scar. Other clinical features include gastrointestinal tract and central nervous system involvement. Other organs such as the kidneys, lungs, pleura, liver, heart, and eyes, can also be involved. The gastrointestinal form of Degos disease can be fatal. The onset of the vascular symptoms happens between the ages of 15 and 50 years. When it affects teenagers, especially white male, the initial symptoms are skin lesions on the trunk.

Synonyms

Malignant Atrophic Papulosis; Papulose Atrophiante Maligne; Degos Disease; Degos-Köhlmeier Disease; Köhlmeier-Degos Disease.

History

This medical condition was first described in 1941 by W. Kohlmeier, a German radiologist, and first individualized as a medical entity in 1942 by Robert Degos, a French dermatologist.

Incidence

The exact incidence remains unknown. There are fewer than 50 living patients presently known worldwide, and fewer than 200 have been reported in the medical literature. However, it is possible that affected individuals may be under-diagnosed because of the rarity of the disease and the lack of knowledge about this medical condition by medical practitioners.

Genetic inheritance

Autosomal dominant inheritance is observed in familial cases.

Pathophysiology

Unknown. Familial cases have been described. Immunologic, infectious, or thrombotic factors have been evocated.

Diagnosis

Clinically evocated onset usually in young adults between 15 and 50 years old, probably with white male predominance. Characteristic skin papular lesions are described as pink, circular in shape, bumpy, asymptomatic, diffuse with a telangiectatic border followed by umbilication and a porcelain white center appearance. Histologic appearance is typically characterized by a wedge-shaped area of necrosis from the epidermis through the dermis. Typically, the papules are 0.5 to 1 cm in width and appear on the trunk and upper extremities. They are not seen on the palms, soles, scalp, or face of the patient. Blood tests reveal an elevated white blood cell count (>30,000 cells/mm3) and low hemoglobin and platelets most often due to infections. Blood gases show respiratory alkalosis with concomitant metabolic acidosis in most cases. A 46-year-old male patient was diagnosed with the malignant, systemic form and skin biopsy identified the presence of C5b-9 complexes in the involved vessels. The use of eculizumab, a humanized monoclonal antibody drug, and treprostinil have been successful in treating patients. Treprostinil contributes to improve the gastrointestinal and central nervous system symptoms as well as clearing of cutaneous lesions.

Clinical aspects

Skin lesions can ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.