Rare Neurology News

Disease Profile

Malakoplakia

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.

Unknown

Age of onset

Adult

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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)

Malacoplakia

Categories

Digestive Diseases

Summary

Malakoplakia is a rare chronic inflammatory disease. It most commonly involves the urogenital system (reproductive organs and urinary system), but may also be found in other regions of the body, including the pelvis, bones, lungs, thyroid gland, gastrointestinal (digestive) tract, skin, and kidneys. Symptoms of malakoplakia differ depending on the involved area. For example, when the skin is affected the malakoplakia may appear rash-like with small areas of itchy, reddened skin that may be painful and/or fluid filled.[1][2]

The cause of malakoplakia is not well understood. It is thought to be related to an issue with the function of one's macrophages, which are one type of cell within the immune system that respond to foreign invaders (bacteria). E.coli is the most common type of bacteria that leads to malakoplakia. Individuals with a compromised immune system have an elevated risk to develop malakoplakia. Treatment typically begins with antibiotics.[1][2]

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
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormal bleeding
Bleeding tendency
0001892
Abnormality of the menstrual cycle
0000140
Diarrhea
Watery stool
0002014
Dysuria
Painful or difficult urination
0100518
Fever
0001945
Hematuria
Blood in urine
0000790
Papule
0200034
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Skin rash
0000988
Skin ulcer
Open skin sore
0200042
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
Urinary bladder inflammation
0100577
Urinary hesitancy
Difficulty with flow
0000019
Urinary urgency
Overactive bladder
0000012
30%-79% of people have these symptoms
Follicular hyperplasia
0002729
Immunodeficiency
Decreased immune function
0002721
5%-29% of people have these symptoms
Abnormality of the neck
0000464
Abnormality of the tongue
Abnormal tongue
Tongue abnormality

[ more ]

0000157
Chest pain
0100749
Cough
Coughing
0012735
Neoplasm of the colon
Colon tumor
0100273
Neoplasm of the rectum
Rectal tumor
0100743
Orchitis
Inflammation of testicles
0100796
Prostate neoplasm
0100787

Cause

The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS.[3]

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 Providing General Support

    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

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • 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 Malakoplakia. Click on the link to view a sample search on this topic.

        References

        1. Amira M Elbendary. Malakoplakia. Medscape. Jan 19, 2016; https://emedicine.medscape.com/article/1055606-overview.
        2. João Paulo Junqueira Magalhães Afonso, Patricia Naomi Ando, Maria Helena Valle de Queiroz Padilha, Nilceo Schwery Michalany, Adriana Maria Porro. Cutaneous malakoplakia: case report and review. An Bras Dermatol. 2013 May-Jun; 88(3):432-437. https://www.ncbi.nlm.nih.gov/pubmed/23793204.
        3. Tolkoff-Rubin NE, Rubin RH, Contran RS. Urinary Tract Infection, Pyelonephritis, and Reflux Nephropathy. In: Brenner BM, Levine SA. Brenner & Rector's THE KIDNEY 8th ed. Philadelphia, PA: 2008;

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