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Disease Profile
Malignant Atrophic Papulosis
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.
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Age of onset
Adult
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
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
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 |
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 |
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 | |
0000006 | ||
Constrictive pericarditis | 0002563 | |
Stroke | 0001297 |
Cause
Treatment
For further information on your treatment options, we encourage you to discuss your questions and this information with your healthcare provider.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The histology of early lesions resembles cutaneous lupus erythematosus (see this term). More developed lesions can imitate lichen sclerosus (see this term).
Visit the Orphanet disease page for more information.
|
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.
Organizations Supporting this Disease
-
Steffens Scleroderma Foundation
PO Box 38037
Albany, NY 12203
Website: https://www.steffens-scleroderma.org/
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
- Malignant Atrophic Papulosis. MeSH. https://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?mode=&index=24677&view=expanded. Accessed 3/31/2011.
- 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;
- 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.
- Wilson J . Benign cutaneous Degos disease in a 16-year-old girl. Pediatr Dermatol. 01-JAN-2007;
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