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Disease Profile

Epidermoid brain cyst

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

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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

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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)

Central nervous system epidermoid cyst; Intracranial epidermoid cyst; Epidermoid brain tumor

Summary

Epidermoid brain cysts (also called intracranial epidermoid cysts or tumors) usually form in the very early stages of the development of a baby (embryo). The cysts develop when cells that are meant to become skin, hair, and nails (epithelial cells) are trapped among the cells that form the brain.[1][2][3] Less commonly, the cysts may develop later in life (acquired) when an injury or surgery causes epithelial cells to be trapped in brain tissue.[3] An epidermoid brain cyst has a thin outer layer of epithelial cells surrounding fluid, keratin, and cholesterol.[1][2][3]

Although epidermoid brain cysts are usually benign (not cancerous) and slow growing, the cysts may grow around and encase cranial nerves and arteries. Thus, epidermoid brain cysts are most often diagnosed in middle-aged adults when the cysts have grown large enough to cause symptoms.[1][2][3] Symptoms may include hearing loss, ringing in the ears (tinnitus), headaches, involuntary twitching of the face, or chronic, severe face pain (trigeminal neuralgia).[2][3] Rarely, an epidermoid cyst may leak into surrounding tissue and cause the lining of the brain (meninges) to become inflamed (aseptic meningitis, meaning the meningitis is not caused by a virus or bacteria).[2]

Epidermoid brain cysts may be diagnosed by MRI and CT scans. Treatment usually involves surgery. Complete removal may be difficult if the cysts have surrounded or are very close to cranial nerves, arteries, or brain tissue.[1][2][3] Regrowth of the cysts may occur, but in most cases, due to slow growth, symptoms may not return for years. If aseptic meningitis develops due to leakage of the cyst, steroids may be used to control the inflammation. There have been some reports of existing cysts or remnants of cysts left behind after surgery developing into cancer (since the cyst is made of skin cells, the cancer is usually a form of skin cancer, most commonly squamous cell carcinoma).[1][2]

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.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.

        References

        1. Cysts. American Brain Tumor Association (ABTA). June, 2010; https://www.abta.org/secure/resource-one-sheets/cysts.pdf.
        2. Chheda MG, Wen PY. Uncommon brain tumors. UpToDate. Waltham, MA: UpToDate; August 8, 2017; https://www.uptodate.com/contents/uncommon-brain-tumors.
        3. Ravindran K, Rogers TW, Yuen T, Gaillard F. Intracranial white epidermoid cyst with dystrophic calcification A case report and literature review. J Clin Neurosc. August 2017; 42:43-47. https://www.ncbi.nlm.nih.gov/pubmed/28342703.