Also known as: Kohlmeier-Degos disease; Malignant Atrophic Papulosis
Degos disease is a rare inherited condition first described by Kohlmeier in 1941 and Degos in 1942. There are thought to have been about 200 cases of the condition, with about 170 of them having been reported in medical literature. The most severe form is systemic Degos disease affecting children and adolescents with most cases occurring in young adults. Benign Degos disease also affects adults.
Medical text written December 2011 by Dr A Theodoridis, Department of Dermatology, Immunology and Allergology, Dessau Medical Center, Dessau, Germany.
Systemic Degos disease affects a number of body systems:
- skin – pink or red papules (solid raised lesions) primarily on the trunk (mid part of body) and limbs, which heal to leave white scars
- gastrointestinal – abdominal pain, nausea, vomiting, diarrhoea or constipation and, in the later stages, intestinal perforation (small holes appearing in the intestine) and haemorrhage (bleeding from the intestine) may occur
- neurological – manifestations involve the peripheral (systems around the edge of the body) and central nervous systems leading to headaches, dizziness, seizures, hemiplegia (total or partial paralysis of one side of the body), aphasia, paraplegia (paralysis of the lower half of the body), and gaze palsy (partial or complete inability to move the eyes to all directions of gaze)
- ocular (eyes) – ptosis (drooping of the upper eyelid), optic neuritis (inflammation of optic nerves), diplopia (double vision) and visual field defects may occur.
Benign Degos disease usually only produces the typical skin lesions of the condition.
The disease is characterised by thrombosis (occlusion) of certain blood vessels (arteries). There are many different theories that have been postulated for the development of this condition. The most reasonable ones are problems with the blood clotting mechanism, a defect of the endothelium (inner wall) of the blood vessels and an autoimmune disorder.
Degos disease is usually diagnosed mainly clinically, since the lesions are rather characteristic and in most of the cases with skin biopsy; however, the histology of the disease is mostly inconsistent and not very specific. In case of involvement of the inner organs, endoscopy (an instrument for visualising the interior of a hollow organ) can help to visualise the lesions. Affected individuals need to be carefully monitored for symptoms of systemic Degos disease, which requires more intensive treatment.
Treatment is symptomatic (meaning that the symptoms are treated rather than the cause), although research continues to try to find effective drugs. Surgical intervention may be needed for gastrointestinal bleeding, gastrointestinal perforation, bowel infarction (death of tissue) or intracranial bleeding.
Degos disease is familial (tending to occur in one or more members of a family). It has been suggested that it has autosomal dominant inheritance, but this has not been confirmed.
There is no support group for Degos disease in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.