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Author Topic:   Kallmans Syndrome
jrmiss86
Member

Posts: 321
From:Marlton, NJ, USA
Registered: Jun 2005

posted July 21, 2005 10:45 AM     Click Here to See the Profile for jrmiss86   Click Here to Email jrmiss86     Edit/Delete Message   Reply w/Quote
Hi there,

I have a six month old son who has x-linked ichthyosis. I have been reading this site every day since I found it and have found everyone to be very helpful. I was wondering if there is anybody out there who knows anything about Kallmans syndrome. It is a very rare genetic disorder caused by a deletion of a gene that is right next to the gene deletion that caused the icthyosis (or so I have been told) and the two are often found togethor. I have been having trouble finding other people who are facing this disorder. The only sites I have found only contain information and nowhere to talk to people.

Thanks

Heather and Alex(6 months)

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Les Avakian
Moderator

Posts: 536
From:Fresno, Calif. USA 93705
Registered: Aug 2000

posted July 24, 2005 08:37 PM     Click Here to See the Profile for Les Avakian   Click Here to Email Les Avakian     Edit/Delete Message   Reply w/Quote
Hello Jrmiss86
Your post is very interesting and I would also like those with Kallmans disease to post here.As you probably already know, X linked ichthyosis is caused by the deficiency of the steroid sulphatase enzyme.Taken from the Principles and Practices of Dermotology (1996)"the steroid sulphatase enzyme has been mapped to the distal tip of the short arm of the X chromosome (Xp22.3)Patients with x linked ichthyosis generally have deletions of this segment, but recently a few cases with point mutations have also been identified.Genes for Kallman`s syndrome(anosmia and hypogonadism) and Conradi-Hunermann syndrome(chondrodysplasia punctata) are also located at Xp22.3."How many people are affected with these diseases are unknown to me and would be a very good question to bring up at our next conference.As for the two diseases found together, personally I haven`t met anyone with x-linked and these other diseases. Thank you Jrmiss86 for your post and hopefully others will post.
Sincerely,
Les Avakian

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jrmiss86
Member

Posts: 321
From:Marlton, NJ, USA
Registered: Jun 2005

posted July 25, 2005 10:28 AM     Click Here to See the Profile for jrmiss86   Click Here to Email jrmiss86     Edit/Delete Message   Reply w/Quote
My son has both kallmans and x-linked ichthyosis and is more affected by the icthyosis at the moment, although no one is sure yet how the kallmans will affect him yet, we won't know that until he is much older. However my two younger brothers both have both kallmans and x-linked icthyosis and are much more affected by the kallmans than the icthyosis. Both the disorders run in our family. My mother is a carrier as well as me. We are somewhat of an oddity because of these disorders both occuring so frequently in one family.

thanks
Heather

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Les Avakian
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Posts: 536
From:Fresno, Calif. USA 93705
Registered: Aug 2000

posted July 25, 2005 09:04 PM     Click Here to See the Profile for Les Avakian   Click Here to Email Les Avakian     Edit/Delete Message   Reply w/Quote
Hello Heather and Alex
Thank you for posting and you are the first family I have communicated with who has kallman`s syndrome and x linked ichthyosis.The combination is very rare and also passed from mother to sons, and from mother to daughter to grandson.Please explain what kallmans is and its characteristics.Are your brothers using the alpha hydroxy acids? What are the treatments for kallman`s.If you would like to email me, my address is lesthan@aol.com, or lesthan@hotmail if you would like to add me to your messenger list.Our foundation FIRST is having their national ichthyosis conference in Atlanta Georgia June 30-July 2,2006 and it would be great if you could attend.Also our foundation website is www.scalyskin.org, or for information, info@scalyskin.org, or call (215)631-1411. I think many of our ichthyosis doctors would like to meet you and your family.Take care Heather and thank you again for your posts.
Sincerely,
Les

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Les Avakian
Moderator

Posts: 536
From:Fresno, Calif. USA 93705
Registered: Aug 2000

posted July 25, 2005 09:20 PM     Click Here to See the Profile for Les Avakian   Click Here to Email Les Avakian     Edit/Delete Message   Reply w/Quote
Hello Again
Heather I found a site for more information on Kallman`s syndrome at www.hypohh.net.At this site, they have a homepage, information, a forum, links, and an area to post messages. Also, you can email the sponsors at mark@hypohh.net.I hope this helps.
Sincerely,
Les

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Shannon
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Posts: 3
From:Seattle, WA USA
Registered: Feb 2003

posted July 29, 2005 05:11 PM     Click Here to See the Profile for Shannon   Click Here to Email Shannon     Edit/Delete Message   Reply w/Quote
Hi All,
My daughter and I both have Conradi-Huneramann Syndrome. Please feel free to contact me off the board here at smrna77@hotmail.com.
Thanks
Shannon Huff

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Les Avakian
Moderator

Posts: 536
From:Fresno, Calif. USA 93705
Registered: Aug 2000

posted July 31, 2005 12:05 PM     Click Here to See the Profile for Les Avakian   Click Here to Email Les Avakian     Edit/Delete Message   Reply w/Quote
Hello Shannon and Heather
Thank you for your posts. I looked up both types at our FIRST foundation website at www.scalyskin.org.Maureen Tierney, program director of our ichthyosis support network, might be able to network you with other kallman`s and conradi-hunerman families:info@scalyskin.org or (215)631-1411.Take care and by for now.
Sincerly,
Les Avakian

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tigstoo
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Posts: 4
From:Concord, NC USA
Registered: Aug 2005

posted September 14, 2005 10:53 AM     Click Here to See the Profile for tigstoo   Click Here to Email tigstoo     Edit/Delete Message   Reply w/Quote
jrmiss86 and everybody- I just had my consultation a week or so ago with my genetic counselor and she told me about Kallmann's syndrome. I was just coming here to post a warning to mom's like me who are carrying suspected or known XLI babies and having amnios to test for this also. She said that since the gene for the XLI is so close to the gene for Kallmann's syndrome she suggested to get tested for it, in fact she recommends all women with suspected XLI babies get tested for it, or at least draw off a little extra amniotic fluid for later ( Luckily my lab had extra slides left over so no extra procedure). According to her, about 5% of babies that have X linked icthyosis have Kallmann's syndrome. The problems associated with Kallmann's include mild to moderate mental retardation, possible sterility ( hypogonadotrophic hypogonadism), and problems with their sense of smell (anosmia). I panicked when I heard about this, since I am carrying a XLI boy now, and my brother who has XLI was placed in "special classes" as per my birth mom ( I was adopted ). Luckily, my Kallmann's test came back negative.
My genetic counselor gave me an article about XLI that briefly mentions Kallmann' syndrome. It is from the British Journal of Dermatology 1999:141:617-627 ( that's the year, volume number and pages). If you can't find it, plase email me at tigstoo@mail.com and I'll mail you a copy. I hope this helps. This board is so wonderful I had to try to help!

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jrmiss86
Member

Posts: 321
From:Marlton, NJ, USA
Registered: Jun 2005

posted September 14, 2005 01:08 PM     Click Here to See the Profile for jrmiss86   Click Here to Email jrmiss86     Edit/Delete Message   Reply w/Quote
Thanks for the info,

My family and I are very famillar with both x-linked and Kallmans. My son has both as well as both of my younger brothers. We were told the same thing about the two genes being so close together. As a result of the kallmans my son and brothers are each missing a kidney. My two brothers have very little sense of smell and testerone. Since my son is only seven months old we are not sure how affected by either condition he is.

Thanks again

Heather

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threerxli
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Posts: 515
From:virginia
Registered: Jan 2003

posted October 14, 2005 12:05 PM     Click Here to See the Profile for threerxli   Click Here to Email threerxli     Edit/Delete Message   Reply w/Quote
This is how I was told the XLI and the mental retardation were tied in together. They have only recently, within five years, tied this together. I have never had my children checked or tested for KALLMANN syndrome, because they do not show signs. Tigs is right, it is a small percentage. Most people with XLI do not stand out in anyway, other than dry skin. I am so glad that the Doctors are finally catching up with the ichthyosis community! There is hope! SMILE

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Impy
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Posts: 10
From:Upstate NY. USA
Registered: Jul 2006

posted July 23, 2006 02:49 AM     Click Here to See the Profile for Impy   Click Here to Email Impy     Edit/Delete Message   Reply w/Quote
Hello everyone,
I've been a lurker for a while and thought it was about time for a first post.
jrmiss86,
I have Ichthyosis and my wife has Kallman's syndrome. Although neither of us share the other's disease you might find this anecdotal information useful.

Possibly the most significant symptoms are the delayed onset or complete lack of puberty, brittle bones, problems with the growth plates of the bones, inability to have children and the lack of a sense of smell. Adults with Kallman's syndrome tend to be tall and look younger than they are because of the growth plates and puberty issues respectively.
The puberty issue can be treated with regular injections of oestrogen when young although my wife tells me that this was a horrible experience for her and so she stopped these treatments as soon as her growth plates had finished closing. With this treatment the person will go through puberty and will emerge probably looking a bit younger and taller than his or her peers. This will probably be a problem when they come of age and want to buy beer but might actually be seen as a positive thing later on when they look effortlessly young without the aid of plastic surgery. :-D

The problem of brittle bones can be quite serious, I can tell you from bitter experience that breaking your loved one's ribs with a cuddle is a heartbreaking possibility. Calcium supplements and a calcium rich food are suggested for this although in my wife's case these have never been very succesful so a careful lifestyle and a husband who doubles as fulltime bodyguard against accidental knocks and bumps in public is used instead. :-) If you could get your children to start a calcium diet early and keep it up throughout their lives then I'm sure they would probably have more success though. Rugby or american football at school probably isn't a good idea.

In the case of women who can't have babies because of Kallman's there is a treatment which involves fertility drugs being injected every few minutes by a device worn around the waist. We don't have any personal experience with this but from what I've read, it seems to work well.

The lack of a sense of smell might not seem serious but remember household gas leaks and stove-top fires can happen to anybody and without a sense of smell to warn you can be especially dangerous. A skunk exploding nearby can also go unnoticed and be very embarrassing. Instilling a sense of household safety and packing smoke and carbon monoxide detectors into your children's bags when they go off to college should do the trick.

I read in some of the replies in this thread that mild to moderate mental retardation was common with Kallman's. I hadn't heard of this before and in my wife's case it isn't present, she does have dyslexia which has historically often been confused with a learning disability by ignorant teachers and doctors so keep an open mind on that one.

I hope you found some of that useful.

Persons not interested in rants can skip the following. :-)
* Semi-related rant 1.
Due to Kallman's rarity, while in an emergency room being treated for severe chest pains the doctor began asking my wife lots of questions about her Kallman's syndrome. Thinking that her disease must have something to do with the pain she answered all his (obscenely personal) questions through gritted teeth and after about 45 minutes of agonising pain she asked "So the Kallman's syndrome is causing the pain?" He answered "Oh no I just haven't met a person with Kallman's before!" and then left. I just about blew a head-gasket.

* Semi-related rant 2
I immigrated to the USA from the UK, and during the obligatory medical exam the doctor asked me what was up with my hands. I told him it was ichthyosis. He said he had never heard of it and went to look it up. He came back and said that he couldn't find any information on it and strongly insinuated I was lying about the whole thing! For a good while he tried to get me to say it was ezcema (which it most certainly is not) and for all I know my medical records here in the US are a lot of rubbish!

The moral of these stories is to make sure that your doctor stays on track when Ichthyosis, Kallman's or another rare affliction isn't the reason for your visit to the doctor's office.

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momtojesse
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Posts: 30
From:
Registered: Oct 2004

posted July 24, 2006 12:31 AM     Click Here to See the Profile for momtojesse   Click Here to Email momtojesse     Edit/Delete Message   Reply w/Quote
Ummm WOW! I think I need some info on Kallmans as some of the symptoms are seen in all 3 of my children... Is it possible for my unaffected son to have this?? He is older than my x-linked son & shows no signs of puberty & very well should be...
My x-linked son has learning delays (from year one) along with abnormalities of hair, teeth & nails.. I also was told when he was little that one of his testicles was undecended. As he has been "difficult" we have not been to a physician in years unless it was an emergency.
They all have some similar symptoms associated with this as well as others.. My father also has the same problems as my x-linked son. Both my sons & myself have heart related problems.
Can someone e-mail me with more info??
Thanks! M

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jrmiss86
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Posts: 321
From:Marlton, NJ, USA
Registered: Jun 2005

posted July 24, 2006 04:14 PM     Click Here to See the Profile for jrmiss86   Click Here to Email jrmiss86     Edit/Delete Message   Reply w/Quote
first off let me say sorry for taking so long to respond. We just moved on the 21st and I only just got my internet connection today.

We are very fammilar with all the possible problems with kallmans, my son and two brothers have gotten off easy compared to some others I have talked to. We found out with my brothers when they did not hit puberty, fortunatly for my son we knew before he was born. I was intrested to hear about a women who had it because we were told that it is an x-linked disorder. We were also told that frequently kallmans and icthyosis occur together becasue they are so close together on the gene.

Momtojesse send me your address and e-mail and I will gladly send you the info we have and I would gladly answer any questions that you have my e-mail is jrmiss86@jrmiss86.com

I also wanted to mention that both of my brothers have ADD or ADHD as well as other learing issues, we are not sure if they are related to the kallmans, but since it is a brain disorder it makes sense to me at least. As for Alex, it is way to early to tell, he is only 18 months old, but we are on the lookout for it.
Have a great day

[This message has been edited by jrmiss86 (edited July 24, 2006).]

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threerxli
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Posts: 515
From:virginia
Registered: Jan 2003

posted July 31, 2006 04:25 PM     Click Here to See the Profile for threerxli   Click Here to Email threerxli     Edit/Delete Message   Reply w/Quote
I just had to laugh after reading Impy's post. (not the serious nature of course) but the Doctor's questions. I have taken the boys for routine appointments and I can almost predict, that if it is not their regualr doctor that after they read, or hear ichtyosis, they walk out of the room, grab their palm or alt. ref. material, and only then walk back in to talk. If you think the doctors are difficult, try talking to a middle school teacher in Virginia. They feel that with just one glance, they can determine what an amnio and genetic testing can prove or disprove.

X linked ichthyosis,(my boys have this) it is common that the testicles can be undescended. It was written at one time, that a higher rate of testicular cancer could be related to x linked too. (With all of the modern testing, I am not sure if this is still current information) I taught my boys to self check for lumps, bumps, or something out of the ordinary. To also make sure that they have two, since they can go up and down. I guess the same way we would teach a daughter to check her breasts. My ped's doctors knew to check for undescended testicles at birth, and it could be that if it is not caught early, that testicle may become cancerous.
They have a pretty good article of Kallmanns on emedicine too.

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Lynx30
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From:NZ
Registered: Jul 2008

posted July 06, 2008 05:50 AM     Click Here to See the Profile for Lynx30   Click Here to Email Lynx30     Edit/Delete Message   Reply w/Quote
Hi,

I am a 30 Year Old Female in NZ and my Uncle in Australia has Kallmann's Syndrome and has suffered for years with it.

He has no sense of smell and mirror imaging which means everything his right hand does his left does and he did not go through puberty. His mother was ashamed by this and never told anyone and told him not to tell anyone.

Apparently he is the only diagnosed case in Queensland Australia so he does find it very hard at times as people do not understand.

For years he told me about it but I never paid attention then my sister had six children and her third son now has Kallmanns. Fortunately for her she has some insight into it and she was able to get help for her son before it was too late.

It wasnít only until a couple of months ago while I was talking to him on the phone that I decided to look Kallmann's up on the Internet. One of the side effects to this syndrome is absence of one or both kidneys.

I had a baby 9 years ago who died as he was diagnosed with Potters Syndrome which I was told was very rare and I was a 1 in a million case. I couldn't understand this and took it quite hard. I now find out 9 years later that my baby must have had Kallmann's Syndrome as Potters is renal agenesis which means no kidneys and a sever side effect to Kallmann's is absence of one or both kidneys.

I am finding this hard to handle as I am now on fertility treatment and fear that if I do get pregnant again my baby may have this and I may have another baby die on me. I have had a little girl well she isn't so little anymore she will be 13 that I adopted out and she is a perfectly healthy normal child, however as I have learnt Kallmanns is usually carried by the female and passed to males.

As a mother who passed it onto her baby boy and fears she may make another baby suffer if I ever have the chance at another child.

I know my Uncle has said you have to be careful that they donít say you have dyslexia as this is a common miss diagnosis.

It is very rare and I would love to hear from anyone who has had a baby that has died of Potters and also has a family history of Kallmanns.
N-thompson@xtra.co.nz.

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jrmiss86
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Posts: 321
From:Marlton, NJ, USA
Registered: Jun 2005

posted July 06, 2008 06:54 AM     Click Here to See the Profile for jrmiss86   Click Here to Email jrmiss86     Edit/Delete Message   Reply w/Quote
hi there,

I have not heard of Potters Syndrome, but I do have a ton of experience with Kallmans Syndrome. In my family it is very common. My mom is a carrier, as am I. I have two younger brothers who are both affected with Kallmans Syndrome. I hare two children, a boy who is affected and a girl, who we have not had tested yet, as she is only a year old.

Kallmans has presented itself slightly differently with each person. Each of my brothers and my son all only have one Kidney. That one kidney in each of them has grown to compensate for the missing kidney. My two brothers are 18 and 21 and both have lived perfectly normal lives with one kidney. My 18 year old brother had to have his second kidney removed because it had started to grow but stopped sometime before birth and was causing his first kidney to not function properly. My son is three years old and has had no problems with his one Kidney. He drinks a lot of water (40-60 oz in a day) but I think that is more from the dry skin from the icthyosis than the single kidney. Both of my brothers have little or no sense of smell, I am not sure how much my son can smell, since he is much younger we have not had him tested yet. I will say that he eats pretty well, at least as much as any other toddler. One thing we noticed with my brothers is that their lack of smell affected their taste and therefore did not eat much of a varietly of foods. the older brother does smell a little more than the younger. A funny story, When my parents were watching my two kids a few months ago my brother was with my daughter and she was crying and crying and he couldn't figure out why so he called my mom. The minute she walked in the room she new exactly why the baby was crying, she needed a new diaper, but my brother couldn't smell it at all and being only 18 didn't think to check that. We all had a good laugh at that one.

All three boys have mirror movements, but my 18 year old brother is much more affeected than my other brother and son. He has a lot more perceptual problems along with the mirror movements than the other two. Both of my brothers have ADHD but my son is not showing any signs of it so far, although he is still a bit young to be diagnosed. I am a special ed teacher and I don't really see any of the early signs, so I do not think he has it. Both of my brothers had delayed puberty and take monthly injections of testosterone and will need to for the rest of their lives. We do not know exactly what my son will need yet, and we will not know until he gets older. My 21 year old brother had to have three surgeries when he was younger, for exactly what I do not remember. My 18 year old brother had one when he was an infant to remove the second non-functioning kidney. My son has had two surgeries. The first was when he was 9 months old to correct his hypospadies. His penis kept retracting inside itself. The second was when he was 2 1/2 for undecended testicles. Both related to the kallmans. Other than the delayed puberty in my brothers all three boys have led perfectly normal lives and are relatively healthy.

On a side note, all three boys have allergies and asthma. I do not think this is related to the kallmans however since I also have allergies and asthma and my daughter is showing signs of allergies as well. My son also has a dairy and possibly soy intolerance but so does my daughter so I do not think this is related.

One thing I have learned with Kallmans is that while it may be simmilar each case of Kallmans is different. If you have any questions please feel free to contact me.

Have a great week

God Bless

------------------
Heather
Mom to:
Alex (xli and Kallmans - 2/3/05)
Liz (3/16/07)

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yr
Member

Posts: 6
From:Ireland
Registered: Jul 2008

posted July 16, 2008 02:09 PM     Click Here to See the Profile for yr   Click Here to Email yr     Edit/Delete Message   Reply w/Quote
My sons are waiting to be tested for Kallman's Syndrome. My eldest boy has been diagnosed with Asperger's Syndrome but we think his difficulties could be from Kallman's. Has anyone got any suggestions?

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jrmiss86
Member

Posts: 321
From:Marlton, NJ, USA
Registered: Jun 2005

posted July 16, 2008 02:21 PM     Click Here to See the Profile for jrmiss86   Click Here to Email jrmiss86     Edit/Delete Message   Reply w/Quote
What kind of difficulties is he having. From what I know it is not an offical link, but every boy in my family who is affected has some sort of learning disability. I belive it has something to do with the fact that the brain does not produce certain hormones that in turn produce testestorne. The lack of those hormones in the brain can trigger certain learning disabilites.

Again I do not know if that has ever been proven scientificly but it seems to hold true in our family.

------------------
Heather
Mom to:
Alex (xli and Kallmans - 2/3/05)
Liz (3/16/07)

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yr
Member

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From:Ireland
Registered: Jul 2008

posted July 24, 2008 05:06 PM     Click Here to See the Profile for yr   Click Here to Email yr     Edit/Delete Message   Reply w/Quote
Hi Heather, thanks for your reply. I was having difficulty logging on, hence I've only seen your reply now. We live in Limerick and our nearest specialist centre is in Dublin. We should have gone today, but the hospital deferred the apt.

Gary has "learning difficulties". When he was 3 his pre-school teacher thought he had autistic tendancies. He struggles with his basic school workk, but is good at art and history. His co-ordination has always been poor - he cannot tie his left shoe lace or put on his left sock. He is very immature for his age - 10. His birth was very traumatic in that we both almost died and he is a chronic asthmatic also so he misses quite a bit of school.

We took him to London to meet panel of specialists dealing with Ichthyosis and the psychiatrist said he showed characteristics of an Autistic Spectrum Disorder, more than likely Aspergers. We have met with nothing but opposition from his school and paid privately to have him assessed 3 times. The first misdiagnosed him, the school would'nt accept the 2nd report from a top neurologist and they tried to dismiss the 3rd saying he has Asperger's Syndrome, so we went directly to our Dept of Education.

Our paediatrician cannot answer our questions as he had never come across Ichthyosis before and relies on us to give him information. I think everyone else thinks I'm mad and on my hobby horse. I accepted the Asperger's diagnosis so we could get him help at school, but I'm not sure that's what it is. He is'nt like other people I've met with Asperger's. He has alot of the characteristics, but I think the link to Kallman's is too much of a coincidence. I think he has Kallman's, but I'm the only one in my family who does.

I know that the only way to find out is to have a blood test -??? - or so I've been told. He is tall enough, but has very short legs and has'nt developed at all down below! Our paediatrician said he thought it was inside in the fat in his groin area, but when I started on about Kallman's he referred us straight to Dublin - he had'nt known about that part! I have'nt noticed much about his sense of smell except that perhaps he can only smell very strong odors, but he is a very finicky eater - he's really bad! His testicles have been queried 4 times, but were found to be there afterall.

I could be way off track with all of this, but I feel it's all too much of a coincidence and the panel of experts we met in London were'nt too sure as they had dealt with the other forms.

Thanks again for your mail.

YVONNE (mum of Gary 10 and Jack 81/2, both with XLI and asthma and possible Asperger's)

[This message has been edited by yr (edited July 24, 2008).]

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