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Disease Profile
Cholesteatoma
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
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ICD-10
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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)
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
Symptoms
- 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
- 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
Treatment
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
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Vestibular Disorders Association
5018 NE 15th Ave
Portland, OR 97211
Toll-free: 800-837-8428
Telephone: 503-229-7705
Fax: 503-229-8064
E-mail: [email protected]
Website: https://www.vestibular.org
Social Networking Websites
- Visit the following Facebook groups related to Cholesteatoma:
Cholesteatoma
Kids with Cholesteatoma
Cholesteatoma The Hidden Disease
Cholesteatoma & Mastoiditis Awareness
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
- Cholesteatoma. MedlinePlus. May 25, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/001050.htm.
- Cholesteatoma. American Academy of Otolaryngology-Head And Neck Surgery. https://www.entnet.org/content/cholesteatoma. Accessed 4/28/2017.
- Roland PS. Cholesteatoma. Medscape. January 19, 2017; https://emedicine.medscape.com/article/860080.
- Cholesteatoma. Vestibular Disorders Association. https://vestibular.org/cholesteatoma. Accessed 4/28/2017.
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