Malignant Atrophic Papulosis

Alternate names

Degos's malignant atrophic papulosis; Atrophic papulosis, malignant; Kohlmeier-Degos disease; Köhlmeier-Degos disease; Papulosis atrophican maligna; Degos disease; Köhlmeier-Degos-Delort-Tricort syndrome

Definition

Degos disease is a rare blood vessel disorder. It is characterized by blockages of small to medium sized blood vessels.

Cause

• Currently the cause of Degos disease is not known.
• Similar skin macules have been described in people with systemic lupus erythematosus and in a patient without lupus who had anticardiolipin antibodies and lupus anticoagulant.

Signs and symptoms

• Signs and symptoms of Degos disease can vary greatly from person to person.
• Skin symptoms include porcelain-white macules that tend to develop on the trunk, arms, and legs.
• For some people, this is their only symptom.
• For others, Degos disease affects multiple body organs.
• Skin macules tend to be the earliest symptom in multisystem disease.
• Small bowel involvement is very common, and Degos disease can cause intestinal perforation (tear).
• Degos disease can also affect the nervous system, in particular the cerebral and peripheral nerves.
• This may result in a variety of symptoms, such as partial paralysis, aphasia (difficulty communicating), cranial neuropathies (which affect nerves that are connected with the brain and control sight, eye movement, hearing, and taste), sensory disturbances, and seizures.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Dermal atrophy(Skin degeneration)
• Papule
• Telangiectasia of the skin

30%-79% of people have these symptoms

• Abdominal pain(Pain in stomach)
• Fatigue(Tired)
• Gastrointestinal hemorrhage(Gastrointestinal bleeding)
• Gastrointestinal infarctions(Death of digestive organ tissue due to poor blood supply)
• Intestinal perforation
• Muscle flaccidity
• Nausea and vomiting
• Weight loss

5%-29% of people have these symptoms

• Abnormal myocardium morphology
• Abnormal pericardium morphology
• Abnormality of the lower urinary tract
• Abnormality of the optic nerve(Optic nerve issue)
• Amaurosis fugax
• Arterial thrombosis(Blood clot in artery)
• Arteritis(Inflammation of artery)
• Cataract(Clouding of the lens of the eye)
• Chest pain
• Cranial nerve paralysis
• Diplopia(Double vision)
• Intestinal fistula
• Ischemic stroke
• Migraine(Intermittent migraine headaches)
• Myocardial infarction(Heart attack)
• Pain insensitivity
• Peritonitis
• Pleural effusion(Fluid around lungs)
• Ptosis(Drooping upper eyelid)
• Respiratory failure
• Seizure
• Vertigo(Dizzy spell)

Diagnosis

• The basis of diagnosis is on finding the pathognomonic skin lesions on physical exam and can be supported histopathologically.
• There are no lab abnormalities or serum markers specific for atrophic papulosis identification.
• However, many patients present with defects in blood coagulation.
• For instance, gastrointestinal involvement may require a fecal occult blood test, colonoscopy, esophagogastroduodenoscopy, or laparoscopy.
• Brain magnetic resonance imaging with contrast, heart ultrasonography, thorax computed tomography with contrast, ocular fundus examination, and kidney function tests are recommendations for the central nervous system, cardiac, respiratory, ocular, or renal involvement, respectively.[1].

Treatment

• Currently, there is not a targeted therapy for Degos disease that has been proven effective.
• Treatment of Degos disease has been attempted with antithrombotic agents, such as aspirin and dipyridamole.
• These treatments were reported to be effective in some patients.
• Other treatments that have been tried, but have shown inconsistent results, include anticoagulants and fibrinolytic agents (drugs to help break-up and dissolve clots), ticlopidine, pentoxifylline, prostaglandin E1, and interferon alpha-2a. Treatment with intravenous immunoglobulin has also been tried, but produced conflicting results.
• Infliximab was reported to be ineffective in one case.
• Infliximab was reported to be ineffective in one case.
• Immunosuppressives such as corticosteroids may worsen Degos disease.

Prognosis

• Prognosis of individuals with Degos disease varies considerably depending on the extent of blood vessel involvement.
• Individuals with isolated skin macules have a good prognosis, while individuals with multisystem disease often face life threatening complications.
• To learn more about your or your loved one’s prognosis we strongly recommend that you speak with a healthcare provider.

NIH genetic and rare disease info

• NIH info on Malignant Atrophic Papulosis

Malignant Atrophic Papulosis is a rare disease.