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Disease Profile

Corticosteroid-sensitive aseptic abscesses

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

Adolescent

ICD-10

-

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.

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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)

Aseptic abscesses syndrome; Aseptic systemic abscesses; Disseminated aseptic abscesses

Categories

Skin Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 54251

Definition
Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.

Epidemiology
It is a rare disease with 49 cases documented so far. Prevalence is unknown.

Clinical description
It affects mainly young adults and is characterized by recurrent attacks of fever and deep abscess-like collections, most frequently localized in the abdomen. Blood markers of inflammation and polymorphonuclear neutrophil levels are elevated. Aseptic abscesses may be either isolated or associated with an underlying condition such as relapsing polychondritis (see this term) or inflammatory bowel disease. The abscesses usually precede the diagnosis of inflammatory bowel disease, possibly by several years. A neutrophilic dermatosis, like pyoderma gangrenosum, may also be observed.

Etiology
The etiology is unknown: all searches for a pathogen, including those using PCR with universal and specific probes, remain negative. A familial history of a granulomatous disorder is found in a few cases.

Diagnostic methods
On pathologic examination, aseptic abscesses consist of a core of altered polymorphonuclear leukocytes surrounded by palisading histiocytes and sometimes giant cells.

Management and treatment
Antibiotics fail to cure the patients but dramatic improvements are seen with corticosteroids and immunosuppressive drugs.

Visit the Orphanet disease page for more resources.

Symptoms

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
Elevated C-reactive protein level
0011227
Fever
0001945
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormality of the lymph nodes
Abnormal lymph node histology
0002733
Anemia
Low number of red blood cells or hemoglobin
0001903
Elevated hepatic transaminase
High liver enzymes
0002910
Liver abscess
0100523
Neutrophilia
Increased blood neutrophil counts
0011897
Weight loss
0001824
5%-29% of people have these symptoms
Abnormal lung morphology
Abnormality of lung structure
Abnormality of the lungs
Abnormally shaped lung
Unusal lung shape

[ more ]

0002088
Abnormal testis morphology
Abnormality of the testis
0000035
Abnormality of the pancreas
0001732
Brain abscess
0030049
Diarrhea
Watery stool
0002014
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
1%-4% of people have these symptoms
Abnormality of the kidney
Abnormal kidney
0000077

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.

In-Depth Information

  • 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.
  • 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 Corticosteroid-sensitive aseptic abscesses. Click on the link to view a sample search on this topic.