Re: Cholesteatoma - ever heard of a hereditary link?-Reply

June 21, 2008

Foun done reference

Hereditary factors in chronic otitis with cholesteatoma.

Hereditary or genetic factors influence the degree of pneumatisation as demonstrated by Schwarz, Dahlberg and Diamant. The angulation at the base of the skull interferes with the anatomical position and patency of the Eustachian tube and leads to impaired pneumatisation of the mastoid. In patients with primary acquired cholesteatoma the angle formed by the clivus, posterior clinoid process and posterior border of the hard palate is significantly smaller than in non-cholesteatomatous patients. The configuration of the epipharyngeal region is considerably different in cholesteatoma carriers than in normal individuals. In cholesteatoma carriers the epipharyngeal lumen is significantly smaller than in normal individuals.

Dr. Arun (India)

On 6/21/08, s <thequeen.christine@...> wrote:

My cousin and my daughter both have had very similar ctoma stories. Our ENT asked me at a recent visit how my other children's hearing was. That pretty much made my blood run cold! So far, though, it is only Chloe in our immediate family, although I have poor eustachian tube function, as well.

On Fri, Jun 20, 2008 at 2:57 PM, Judy Adkins <a2judyadkins@...> wrote:

I haven't heard of the hereditary link before, but it could bepossible. My son had Congenital Ctoma and my sister and my mother bothhave otosclorosis of one of the ear bones. One of his otologists

recently told me he also had cochlear otosclorosis, but his surgeonsaid he just didn't see it on the CT scan. (We will have to wait andsee on that one?)

dskempton wrote:>> We all know that Cholesteatomas are rare, but I was curious if there> are any of you on this board where you have a parent and a child who> both suffer from this condition.

>> There seems to have been virtually no research done in this area, but I> am curious as to whether a parent who has a Cholesteatoma has a higher> degree of probability of producing a child with the same condition.

>> To me it's logical, although with the rareness of the condition, I'm> not sure if there is much evidence out there. Especially since, the> Cholesteatoma is really a rare side effect of poor Eustacian tube

> function and doesn't always develop even with those who have frequent> ear infections.>> The main reason I'm curious is because I think if you know from birth> that you're at a higher risk of a condition like this, you can take

> proactive steps to monitor for it, and minimize the potential impact.>> Are there any Parent/Child combo Cholesteatoma Alumni on here?>>------------------------------------

June 21, 2008

Another-

Objective: We report an extremely rare case of family clustering of cholesteatoma.

Method: Case reports and a review of the world literature concerning cholesteatoma and heredity are presented.

Results: The family consists of parents and seven siblings of whom the mother and three sons have been surgically treated for cholesteatoma. All cholesteatomas in the family are acquired and all have a history of otitis media. Cholesteatomas occur with an incidence of 5/100 000 in Greenland, corresponding to two to three new cholesteatoma patients per year among the 57 000 inhabitants of Greenland. The family is very exceptional and interesting for further research concerning heredity in the pathogenesis of acquired cholesteatoma.

Conclusion: To our knowledge this is the first report in the world literature of family clustering of acquired cholesteatoma. This case indicates that hereditary factors interplay with other factors in the pathogenesis of cholesteatoma.

On 6/21/08, Arun Gupta <drarunjind@...> wrote: