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Cholesteatoma

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Description: Cholesteatoma is an abnormal, noncancerous skin growth that can develop in the middle ear, leading to infection and possible damage to the ear structures.
Type: Cholesteatoma is not typically classified as a genetically transmitted disease. It is an abnormal, noncancerous skin growth that can develop in the middle ear behind the eardrum. Most cholesteatomas are acquired, often due to chronic ear infections or eustachian tube dysfunction. Although rare congenital cases exist, there is no established pattern of genetic inheritance for cholesteatomas.
Signs And Symptoms: Other more common conditions (e.g. otitis externa) may also present with these symptoms, but cholesteatoma is much more serious and should not be overlooked. If a patient presents to a doctor with ear discharge and hearing loss, the doctor should consider cholesteatoma until the disease is definitely excluded. Other less common symptoms (all less than 15%) of cholesteatoma may include pain, balance disruption, tinnitus, earache, headaches and bleeding from the ear. There can also be facial nerve weakness. Balance symptoms in the presence of a cholesteatoma raise the possibility that the cholesteatoma is eroding the balance organs in the inner ear.Doctors' initial inspections may only reveal an ear canal full of discharge. Until the doctor has cleaned the ear and inspected the entire tympanic membrane, cholesteatoma cannot be diagnosed. Once the debris is cleared, cholesteatoma can give rise to a number of appearances. If there is significant inflammation, the tympanic membrane may be partially obscured by an aural polyp. If there is less inflammation, the cholesteatoma may present the appearance of 'semolina' discharging from a defect in the tympanic membrane. The posterior and superior parts of the tympanic membrane are most commonly affected. If the cholesteatoma has been dry, the cholesteatoma may present the appearance of 'wax over the attic'. The attic is just above the eardrum.
If untreated, a cholesteatoma can eat or cause erosion of the three small bones located in the middle ear (the malleus, incus and stapes, collectively called ossicles). This can result in nerve deterioration, imbalance, vertigo, and deafness early in the disease. It can also affect and erode, through the enzymes it produces, the thin bone structure that isolates the top of the ear from the brain, as well as lay the covering of the brain open to infection with serious complications (rarely even death due to brain abscess and sepsis).
Both the acquired as well as the congenital types of the disease can affect the facial nerve that extends from the brain to the face and passes through the inner and middle ear and leaves at the anterior tip of the mastoid bone, and then rises to the front of the ear and extends into the upper and lower face.
Prognosis: It is important that the patient attend periodic follow-up checks, because even after careful microscopic surgical removal, cholesteatomas may recur. Such recurrence may arise many years, or even decades, after treatment.
A 'residual cholesteatoma' may develop if the initial surgery failed to completely remove the original; residual cholesteatomas typically become evident within the first few years after the initial surgery.
A 'recurrent cholesteatoma' is a new cholesteatoma that develops when the underlying causes of the initial cholesteatoma are still present. Such causes can include, for example, poor Eustachian tube function, which results in retraction of the ear drum, and failure of the normal outward migration of skin.In a retrospective study of 345 patients with middle ear cholesteatoma operated on by the same surgeon, the overall 5-year recurrence rate was 11.8%. In a different study with a mean follow-up period of 7.3 years, the recurrence rate was 12.3%, with the recurrence rate being higher in children than in adults. The use of the endoscope as an ancillary instrument has been shown to reduce the incidence of residual cholesteatoma. Although more studies are needed, so far, new techniques addressing underlying Eustachian tube dysfunction such as transtympanic dilatation of the Eustachian tube has not been shown to change outcomes of chronic ear surgery.
Onset: Cholesteatoma typically develops gradually over time. It often starts with repeated middle ear infections or a poorly functioning Eustachian tube, which can lead to the formation of a retraction pocket in the eardrum that traps skin cells and other debris, eventually growing into a cholesteatoma. Some cases may be congenital, but they are less common.
Prevalence: The prevalence of cholesteatoma is relatively low, occurring in about 9 to 12.6 per 100,000 individuals annually. It's more common in adults than in children and can occur either congenitally or as an acquired condition, often associated with chronic ear infections.
Epidemiology: In one study, the number of new cases of cholesteatoma in Iowa was estimated in 1975–76 to be just under one new case per 10,000 citizens per year. Cholesteatoma affects all age groups, from infants through to the elderly. The peak incidence occurs in the second decade.
Intractability: Cholesteatoma, if left untreated, can lead to intractable complications due to its progressive nature. It typically requires surgical intervention to manage and remove the abnormal skin growth in the middle ear. Without treatment, it can cause persistent infections, hearing loss, and potentially severe complications such as brain abscesses or meningitis. Therefore, while not inherently intractable, it necessitates timely and appropriate medical intervention to prevent intractable outcomes.
Disease Severity: Cholesteatoma severity varies depending on the size and extent of the growth. It can range from mild with minimal symptoms to severe, potentially causing complications such as hearing loss, balance issues, and even damage to surrounding structures like the facial nerve and brain if left untreated. Early detection and treatment are crucial to prevent serious complications.
Healthcare Professionals: Disease Ontology ID - DOID:869
Pathophysiology: Cholesteatoma is an abnormal, non-cancerous skin growth that can develop in the middle ear behind the eardrum.

Pathophysiology: It typically arises due to the accumulation of keratinizing squamous epithelium within the middle ear, often secondary to chronic ear infections, eustachian tube dysfunction, or a retraction pocket in the eardrum. This trapped epithelium can form a cystic structure, which gradually enlarges and can erode adjacent structures, including the ossicles (tiny bones in the ear), the mastoid bone, and even the inner ear. This can lead to hearing loss, balance disruptions, and, in severe cases, infections that can spread to nearby areas such as the brain.

Nan: This abbreviation is unclear in this context, but if you intended it to stand for "not applicable" (n/a), please let me know. If "nan" has another intended meaning, please specify.
Carrier Status: Cholesteatoma does not have a carrier status as it is not a genetically inherited condition but rather an abnormal, non-cancerous skin growth that can develop in the middle ear behind the eardrum.
Mechanism: Cholesteatoma is an abnormal, noncancerous skin growth that can develop in the middle ear behind the eardrum. Here’s a detailed look at its mechanism and molecular mechanisms:

### Mechanism:
1. **Eustachian Tube Dysfunction**: Impaired function of the Eustachian tube leads to negative pressure in the middle ear, causing the eardrum to retract.
2. **Retraction Pocket Formation**: Negative pressure pulls part of the eardrum inward, forming a retraction pocket.
3. **Keratin Accumulation**: The retraction pocket traps and accumulates keratinized squamous epithelial cells.
4. **Cholesteatoma Formation**: Continuous accumulation and expansion of these cells form a cholesteatoma, which can erode surrounding structures, including bones of the middle ear.

### Molecular Mechanisms:
1. **Inflammatory Cytokines**: Chronic inflammation in the middle ear promotes the release of cytokines such as IL-1, IL-6, and TNF-α, which contribute to epithelial hyperplasia and keratinocyte activation.
2. **Matrix Metalloproteinases (MMPs)**: Overexpression of MMPs, including MMP-2 and MMP-9, leads to the breakdown of extracellular matrix components, aiding in tissue invasion and bone erosion by the cholesteatoma.
3. **Epidermal Growth Factor Receptor (EGFR)**: EGFR signaling is often upregulated, promoting proliferation and survival of keratinocytes in the cholesteatoma.
4. **Oxidative Stress**: Increased reactive oxygen species (ROS) levels can cause cellular damage and promote the pathogenesis of cholesteatoma by affecting cellular signaling and promoting inflammatory responses.
5. **Genetic Factors**: Mutations and polymorphisms in genes related to immune responses and epithelial cell growth may predispose individuals to cholesteatoma formation.

Understanding these mechanisms provides insight into potential therapeutic targets and interventions to manage cholesteatomas effectively.
Treatment: Cholesteatoma is a persistent disease. Once the diagnosis of cholesteatoma is made in a patient who can tolerate a general anesthetic, the standard treatment is to surgically remove the growth.
The challenge of cholesteatoma surgery is to permanently remove the cholesteatoma whilst retaining or reconstructing the normal functions of the structures housed within the temporal bone.
The general objective of cholesteatoma surgery has two parts. It is both directed against the underlying pathology and directed towards maintaining the normal functions of the temporal bone. These aims are conflicting and this makes cholesteatoma surgery extremely challenging.
Sometimes, the situation results in a clash of surgical aims. The need to fully remove a progressive disease like cholesteatoma is the surgeon's first priority. Preservation of hearing is secondary to this primary aim. If the disease can be removed easily so that there is no increased risk of residual disease, then the ossicles may be preserved. If the disease is difficult to remove, so that there is an increased risk of residual disease, then removal of involved ossicles in order to fully clear cholesteatoma has generally been regarded as necessary and reasonable.
In other words, the aims of cholesteatoma treatment form a hierarchy. The paramount objective is the complete removal of cholesteatoma. The remaining objectives, such as hearing preservation, are subordinate to the need for complete removal of cholesteatoma. This hierarchy of aims has led to the development of a wide range of strategies for the treatment of cholesteatoma.
Compassionate Use Treatment: Cholesteatoma is a noncancerous yet destructive growth in the middle ear. It's essential to approach treatment under the guidance of an otolaryngologist. As of now, no specific compassionate use treatment for cholesteatoma has been widely recognized. The primary treatment remains surgical removal, often necessary to prevent severe complications.

Off-label or experimental treatments:
1. **Topical antibiotics and steroids**: Though mainly used to manage secondary infections or inflammation, these could sometimes fall under off-label use.
2. **Matrix metalloproteinase inhibitors**: Research is ongoing into the use of inhibitors like doxycycline to manage cholesteatoma growth, although data supporting their efficacy is limited.
3. **Growth factor inhibitors**: Some studies have investigated targeting growth factors that might contribute to cholesteatoma development.
4. **Gene therapy**: Experimental and still in very early stages, gene therapy approaches aim to address underlying cellular mechanisms driving cholesteatoma.

It's crucial to consult with a healthcare professional specializing in ear disorders for the most current and comprehensive treatment options.
Lifestyle Recommendations: Cholesteatoma is an abnormal, non-cancerous skin growth that can develop in the middle ear behind the eardrum. For individuals with cholesteatoma, certain lifestyle recommendations may be helpful:

1. **Avoid Ear Trauma:** Prevent any activities that might cause trauma or injury to the ear, such as contact sports or inserting objects into the ear canal.

2. **Protect Ears from Water:** Keep the ear dry to reduce the risk of infections. Use earplugs or a shower cap while swimming or bathing.

3. **Monitor for Symptoms:** Pay attention to any changes in hearing, ear pain, or discharge, and seek medical evaluation promptly.

4. **Regular Check-ups:** Follow up with an ENT specialist as recommended to monitor the condition and prevent complications.

5. **Manage Allergies and Infections:** Treat any upper respiratory infections or allergies promptly to reduce the risk of secondary infections affecting the ear.

These lifestyle recommendations can help manage the condition and prevent complications.
Medication: Cholesteatoma is a growth of keratinizing squamous epithelium in the middle ear that can lead to chronic infections and damage to surrounding structures. Medication is not typically effective in treating the cholesteatoma itself; however, antibiotics may be used to manage any associated infections or inflammation. Ultimately, surgical intervention is often required to remove the cholesteatoma and prevent further complications.
Repurposable Drugs: For cholesteatoma, "repurposable drugs" are medications originally developed for other conditions that may show efficacy in treating cholesteatoma. Examples could include:

1. **Antibiotics:** Though not a direct treatment for the cholesteatoma itself, antibiotics like ciprofloxacin or ofloxacin can be used to manage secondary infections.
2. **Steroids:** Potential repurposing of corticosteroids like prednisone to reduce inflammation around the cholesteatoma.

Research is ongoing, and consultation with a healthcare provider is essential for proper diagnosis and treatment.

"Nan" indicates that no relevant information is available for this specific aspect.
Metabolites: Cholesteatoma is a type of abnormal skin growth in the middle ear behind the eardrum. It primarily consists of keratinizing squamous epithelium and desquamated keratin. There are no specific metabolites associated with cholesteatoma that are used for diagnosis or monitoring. The condition is generally diagnosed through clinical evaluation, imaging studies, and examination of the ear.
Nutraceuticals: For cholesteatoma, nutraceuticals are not a recognized treatment. Cholesteatoma typically requires surgical intervention to remove the abnormal growth of skin cells in the middle ear. Using nutraceuticals (foods or supplements with potential health benefits) has not been scientifically proven to be effective in managing or treating this condition. It is essential for individuals with cholesteatoma to consult an otolaryngologist for appropriate diagnosis and treatment options.
Peptides: For cholesteatoma, current treatments primarily involve surgical intervention to remove the abnormal skin growth in the middle ear and mastoid. While research is ongoing into various medical treatments, including peptides and nanotechnology, they are not yet standard clinical practice for treating cholesteatoma. Advances in these areas could potentially offer future therapeutic options, but as of now, surgical management remains the primary approach.