Congenital Cholesteatoma

Congenital forms of cholesteatoma are rare (2% to 5% of cases) and may be associated with other conditions such as BRANCHIOOTORENAL SYNDROME (OMIM: 113650). However, there is little evidence that congenital cholesteatoma itself is hereditary. OMIM: 604183

Also Known As:

Networked: 48 relevant articles (2 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Choristoma (Ectopic Tissue)
2.	Cholesteatoma
3.	Granuloma
4.	Fistula
5.	Congenital Microtia

Experts

1.	Grindle, Christopher: 3 articles (05/2015 - 11/2012)
2.	Kojima, Hiromi: 2 articles (04/2020 - 09/2003)
3.	Kim, Hyoung-Mi: 2 articles (01/2019 - 12/2015)
4.	Lee, Chang Ho: 2 articles (01/2019 - 03/2014)
5.	Shin, Seung-Ho: 2 articles (01/2015 - 03/2014)
6.	James, Adrian L: 2 articles (10/2013 - 01/2013)
7.	Papsin, Blake C: 2 articles (10/2013 - 01/2013)
8.	Jang, Chul Ho: 2 articles (06/2009 - 01/2009)
9.	Choi, Yeonjoo: 1 article (05/2022)
10.	Chung, Jong Woo: 1 article (05/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Cholesteatoma:

1.	Telomerase (Telomerase Reverse Transcriptase)IBA 05/01/2001 - "In addition, the finding that telomerase activity was weak in the congenital cholesteatoma tissue suggests the possibility that vestigial fetal tissues and aberrant tissues are naturally eliminated in normal subjects as a result of apoptosis." 05/01/2001 - "Some of the acquired cholesteatoma tissue specimens and normal external ear canal skin specimens were positive for telomerase activity, but all of the specimens of congenital cholesteatoma tissue were negative for telomerase activity. " 05/01/2001 - "The time of onset was estimated for congenital cholesteatoma and for acquired cholesteatoma by comparing the telomere length and the telomerase activity in the tissues of both diseases with the values of those parameters in normal external ear canal skin. "
2.	ErbB Receptors (EGF Receptor)IBA 08/01/2020 - "The scope of the this study was to detect the matrix metalloproteinase (MMP), tissue inhibitors of metalloproteinase (TIMP) and epidermal growth factor receptor (EGFR) gene expression changes in cholesteatoma perimatrix and to compare these changes among congenital cholesteatoma, adult acquired cholesteatoma and pediatric acquired cholesteatoma. "
3.	Metalloproteases (Metalloproteinases)IBA 08/01/2020 - "The scope of the this study was to detect the matrix metalloproteinase (MMP), tissue inhibitors of metalloproteinase (TIMP) and epidermal growth factor receptor (EGFR) gene expression changes in cholesteatoma perimatrix and to compare these changes among congenital cholesteatoma, adult acquired cholesteatoma and pediatric acquired cholesteatoma. "
4.	Matrix Metalloproteinases (MMPs)IBA 08/01/2020 - "The scope of the this study was to detect the matrix metalloproteinase (MMP), tissue inhibitors of metalloproteinase (TIMP) and epidermal growth factor receptor (EGFR) gene expression changes in cholesteatoma perimatrix and to compare these changes among congenital cholesteatoma, adult acquired cholesteatoma and pediatric acquired cholesteatoma. "
5.	CholesterolIBA 01/01/2021 - "The report presents modern views on the origin and pathomorphological characteristics of the cholesterol granuloma of the petrous apex of temporal bone, its clinical comparison with congenital cholesteatoma of the same localization. " 01/01/2021 - "[Pathology of the apex of the temporal bone pyramid: cholesterol granuloma and congenital cholesteatoma]." 01/01/2006 - "Two cases with congenital cholesteatoma and one patient with cholesterol granuloma refused surgical intervention and were only followed-up. " 04/01/2000 - "MRI can be of particular help in distinguishing congenital cholesteatoma from cholesterol granuloma. " 04/01/2000 - "Congenital cholesteatoma and cholesterol granuloma of the temporal bone: role of magnetic resonance imaging."
6.	Proteins (Proteins, Gene)FDA Link 02/01/2013 - "The role of p21 and p53 proteins in congenital cholesteatoma." 01/01/2015 - "We performed 2-dimensional (2D) electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS) to separate proteins by molecular weight. " 01/01/2015 - "The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. " 01/01/2015 - "Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. "
7.	ConnectinIBA 01/01/2015 - "Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. " 01/01/2015 - "Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. "
8.	CateninsIBA 04/01/2016 - "In conclusion, the expression of E-cadherin and β-catenin is reduced in cholesteatoma, and the reduction is more pronounced in acquired cholesteatoma than in congenital cholesteatoma. "
9.	Tissue Inhibitor of Metalloproteinase-1IBA 08/01/2020 - "There was a significant increase in the mean expression level of MMP-7 gene and a decrease in the mean expression level of TIMP-1 gene (3.12 times more) in congenital cholesteatoma compared to healthy tissue (p < 0.05). "
10.	Intercellular Adhesion Molecule-1 (Intercellular Adhesion Molecule 1)IBA 09/01/2000 - "Increased ICAM-1 expression and LFA-1+ cells were detected in acquired but not congenital cholesteatoma. " 09/01/2000 - "Acquired and congenital cholesteatoma: determination of tumor necrosis factor-alpha, intercellular adhesion molecule-1, interleukin-1-alpha and lymphocyte functional antigen-1 in the inflammatory process."

Therapies and Procedures

1.	Tympanoplasty 03/01/2012 - "In the 2 ears without improved hearing, the first had congenital cholesteatoma and no stapes superstructure, was treated with type IV tympanoplasty. " 04/01/2013 - "Letter to the Editor regarding 'Pie-slice tympanoplasty for transcanal removal of small congenital cholesteatoma'." 03/01/2013 - "Response to the letter to the editor regarding "pie-slice tympanoplasty for transcanal removal of small congenital cholesteatoma"." 11/01/2012 - "Pie-slice tympanoplasty for transcanal removal of small congenital cholesteatoma."
2.	Cochlear Implants (Cochlear Implant) 02/01/2016 - "The occurrence of congenital cholesteatoma during cochlear implant surgery has never been reported before, partly because all patients are preoperatively submitted to imaging studies which can theoretically exclude the disease. " 02/01/2016 - "We believe that primary, single stage placement of a cochlear implant (CI) with simultaneous removal of the congenital cholesteatoma can be performed safely. " 02/01/2016 - "Cochlear implant and congenital cholesteatoma." 01/01/1999 - "Eighteen patients (20 ears) underwent ear surgery for conditions other than otitis media, including ossiculoplasty in 12 ears, cochlear implant in 3, resection of congenital cholesteatoma in 4, and resection of glomus tympanicum tumor in 1. Retraction of the soft posterior EAC wall was observed in only 1 of the 20 ears. "
3.	Mastoidectomy 04/01/2020 - "Materials and Methods: The subjects were 31 patients with congenital cholesteatoma (stage III or IV in Potsic's staging system) that underwent mastoidectomy. " 01/01/2020 - "A 5-year-old boy with congenital cholesteatoma underwent a planned two-stage canal wall up mastoidectomy. " 08/01/1995 - "Since congenital cholesteatoma usually develops in a child with a well-pneumatized mastoid that would create a large mastoid bowl if exteriorized, the otologic surgeon is likely to hesitate in using the canal wall down mastoidectomy technique. " 06/25/2012 - "Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. " 01/01/2010 - "To present children who underwent mastoidectomy for congenital cholesteatoma presented as a subperiosteal abscess. "
4.	Cochlear Implantation 02/01/2016 - "We have reported a rare case of congenital cholesteatoma, found during sequential second side cochlear implantation in a 3-year-old child. " 03/01/2014 - "TLM without CSF otorrhea in an unruptured state merit attention because of its importance during the workup of congenital cholesteatoma or cochlear implantation in spite of its rarity of reports. " 01/01/2013 - "Congenital cholesteatoma and cochlear implantation: Implications for management." 10/01/2005 - "Three patients were bilaterally deaf secondary to CSOM and had bilateral mastoid cavities, and in one patient congenital cholesteatoma was identified during cochlear implantation. "
5.	Reoperation 11/01/2020 - "Congenital cholesteatoma, revision surgery, and follow-up losses were excluded. " 07/01/2010 - "The rate of residual lesions and prognosis of congenital cholesteatoma is mainly depended on the extension and the methods of the surgery, revision surgery as well." 12/01/2018 - "Congenital cholesteatoma can be removed successfully via transcanal endoscopic approach in all patients, and no surgical complications occurred; only one patient with a stage II cholesteatoma showed recurrence during the follow-up visit, and the patient underwent revision surgery. "