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Disease Profile

Cholesteatoma

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

#N/A

ICD-10

#N/A

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)

Primary acquired cholesteatoma (type); Secondary acquired cholesteatoma (type); Congenital cholesteatoma (type)

Categories

Ear, Nose, and Throat Diseases

Summary

Cholesteatoma is an abnormal growth of skin in the middle ear behind the eardrum. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infections.[1][2] Individuals with this condition usually experience a painless discharge from the ear.[3] Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth.[3][2] Treatment usually involves surgery to remove the growth.[3]

Symptoms

Early symptoms may include fluid drainage from the ear, sometimes with a foul odor.[1][4]. As the cholesteatoma enlarges, it can lead to:[1][3][4]

  • A full feeling or pressure in the ear
  • Hearing loss
  • Dizziness
  • Pain
  • Numbness or muscle weakness on one side of the face

Occasionally, individuals may experience complications of the central nervous system including:[3]

  • A blood clot in certain veins within the skull, including the sigmoid sinus
  • A collection of infected material between the outer covering of brain and skull (epidural abscess) 
  • Inflammation of the tissue that surrounds the brain and spinal cord (meningitis)

Cause

A cholesteatoma usually occurs because of poor eustachian tube function in combination with infection in the middle ear.[1][4] When the eustachian tube is not working correctly, pressure within the middle ear can pull part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells. If the cyst gets bigger, some of the middle ear bones may break down, affecting hearing.[1] Rarely, a congenital form of cholesteatoma (one present at birth) can occur in the middle ear and elsewhere, such as in the nearby skull bones.[4]

Treatment

Initial treatment may involve careful cleaning of the ear, antibiotics, and eardrops. Therapy aims to stop drainage in the ear by controlling the infection.[4] Large or more complicated cholesteatomas may require surgery.[1][4] Cholesteatomas very often continue to grow if they are not removed. Surgery is usually successful.[4]

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

    Social Networking Websites

      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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The Vestibular Disorders Association provides information about Cholesteatoma on their Web site. Click on the link to access this information.

        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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Cholesteatoma. Click on the link to view a sample search on this topic.

          References

          1. Cholesteatoma. MedlinePlus. May 25, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/001050.htm.
          2. Cholesteatoma. American Academy of Otolaryngology-Head And Neck Surgery. https://www.entnet.org/content/cholesteatoma. Accessed 4/28/2017.
          3. Roland PS. Cholesteatoma. Medscape. January 19, 2017; https://emedicine.medscape.com/article/860080.
          4. Cholesteatoma. Vestibular Disorders Association. https://vestibular.org/cholesteatoma. Accessed 4/28/2017.

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