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Disease Profile

Malignant Atrophic Papulosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

I77.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Degos's malignant atrophic papulosis; Atrophic papulosis, malignant; Kohlmeier-Degos disease;

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Degos disease is a rare blood vessel disorder. It is characterized by blockages of small to medium sized blood vessels. This slows or stops the flow of blood through the affected vessels. Severity of symptoms depends on the extent and location of the affected blood vessels. Some individuals with Degos disease have isolated skin involvement and develop porcelain-white macules on their skin. Other individuals have more wide spread disease. Multiorgan disease can become life threatening.[1] The cause of this condition is currently unknown.

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).[2] Intestinal perforation is a medical emergency which requires prompt treatment. Click here to learn more about the signs and symptoms of intestinal perforation. Unfortunately intestinal disease tends to recur in these individuals.

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.[2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dermal atrophy
Skin degeneration
0004334
Papule
0200034
Telangiectasia of the skin
0100585
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Fatigue
Tired
Tiredness

[ more ]

0012378
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Gastrointestinal infarctions
Death of digestive organ tissue due to poor blood supply
0005244
Intestinal perforation
0031368
Muscle flaccidity
0010547
Nausea and vomiting
0002017
Weight loss
0001824
5%-29% of people have these symptoms
Abnormal myocardium morphology
0001637
Abnormal pericardium morphology
0001697
Abnormality of the lower urinary tract
0010936
Abnormality of the optic nerve
Optic nerve issue
0000587
Amaurosis fugax
0100576
Arterial thrombosis
Blood clot in artery
0004420
Arteritis
Inflammation of artery
0012089
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Chest pain
0100749
Cranial nerve paralysis
0006824
Diplopia
Double vision
0000651
Intestinal fistula
0100819
Ischemic stroke
0002140
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Myocardial infarction
Heart attack
0001658
Pain insensitivity
0007021
Peritonitis
0002586
Pleural effusion
Fluid around lungs
0002202
Ptosis
Drooping upper eyelid
0000508
Respiratory failure
0002878
Seizure
0001250
Vertigo
Dizzy spell
0002321
Percent of people who have these symptoms is not available through HPO
Abnormal conjunctiva morphology
0000502
Autosomal dominant inheritance
0000006
Constrictive pericarditis
0002563
Stroke
0001297

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.[2]

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.[2] These treatments were reported to be effective in some patients.[2][3] 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.[3] Infliximab was reported to be ineffective in one case.[3] Immunosuppressives such as corticosteroids may worsen Degos disease.[3]

For further information on your treatment options, we encourage you to discuss your questions and this information with your healthcare provider.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

  • The Degos Disease Support Network Patient Forum is a online community for people with Degos disease and their families. You may need to register to post on the forum, but registration is free. Click on Degos Disease Support Network Patient Forum to learn more.

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        The Online Mendelian Inheritance in Man (OMIM)
        The Online Mendelian Inheritance in Man (OMIM)
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Malignant Atrophic Papulosis. Click on the link to view a sample search on this topic.

        References

        1. Malignant Atrophic Papulosis. MeSH. https://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?mode=&index=24677&view=expanded. Accessed 3/31/2011.
        2. Mark LA, Mirowski GW. Oral Disease and Oral-Cutaneous Manifestations of Gastrointestinal and Liver Disease. In: Feldman eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease, 9th ed. Philadelphia, PA: Saunders; 2010;
        3. Cheng TS. A man with generalized small white skin lesions and abdominal pain. Int J Dermatol. 2011 Jun;50(6):726-9; https://www.ncbi.nlm.nih.gov/pubmed/21595670. Accessed 10/26/2011.
        4. Wilson J . Benign cutaneous Degos disease in a 16-year-old girl. Pediatr Dermatol. 01-JAN-2007;

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