Links on Cowden Syndrome and LDD

 Atlas of Genetics and Cytogenetics in Oncology and Haematology – Lhermitte-Duclos Disease

Genetic and Rare Diseases Information Center (GARD) – Lhermitte-Duclos Disease 

(new) Natural Living Center – Cowden syndrome 

Neurological Society of India

Neurowiki – Gangliocytoma 

Orphanet:  Lhermitte Duclos Disease – Lhermitte-Duclos Disease

Tumor Grading and Staging – American Brain Tumor Association


Cowden Syndrome –

Cowden’s Disease

PTEN Hamartoma Tumor SyndromeThe Children’s Hospital of Philadelphia

PTEN Gene Mutation AnalysisCity of Hope

Best Doctors 2013: Breaking the Code Cleveland

Vitamin E may decrease cancer risk in Cowden syndrome patients EurekAlert!

Cowden SyndromeFamilial Cancer Database Online 

A summary/overview of Cowden SyndromeGenetics Home Reference

PTENGenetics Home Reference

Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patientsHereditary Cancer in Clinical Practice

Two genes predict tumor’s progression to invasive breast cancer Los Angeles Times Health

Cowden DiseaseMedscape

PTEN Hamartoma Tumor Syndrome (PHTS)National Center for Biotechnology Information

Cowden DiseaseNew Zealand Dermatological Society Incorporated

Cowden SyndromeThe Ohio State University Wexner Medical Center

PTEN Hamartoma Tumor Syndrome Foundation

PTEN-Related Disorders (Including Autism Spectrum Disorder)

Useful links RareConnect

Single gene cause of insulin sensitivity may offer insight for treating diabetesScience Daily

Two New Genetic Mutations Associated With Cowden Syndrome Identified Science Daily

What is Cowden Syndrome? –  The University of Texas MD Anderson Center



13 thoughts on “Links on Cowden Syndrome and LDD

  1. is this the same as paranglionomas? I had a pheochromocytoma and belong to a great group on facebook. Para’s are like pheos but they grow outside of the adrenal glands and pop up anywhere on the body. I stumbled across your blog when I was doing a search for Cowden syndrome. Pheo’s and Paras are related to the SDHB and SDHD gene as well.

    • I don’t know…the tumor name is gangliocytoma, which is a brain tumor in my cerebellum. It was described by Jacques Jean Lhermitte and P. Duclos in 1920 (as per Wikipedia).

      I’ve never heard of paranglionomas, only that it sounds similar to parathyroids. 🙂 Do you have a genetic mutation in SDHB/SDHD which causes yours?

  2. I don’t know if anyone is trying to find other Lhermitte-DuClos cerebello pontine angle people, but I’m one of them. I was diagnosed after exploratory cerebellar surgery (pre-MRI days) when I was 18 years old, in 1979.

    The internet is so amazing. I believe I was the 67th path diagnosed case back then after a lot of confusion .

    Don’t know if I have any genetic mutations, but I do have a sister with Malignant Hyperthermia (she’s also the mother of a child with Muscular Dystrophy). I had genetic testing to find out if I was a MD carrier, but I was not.

    If there’s any research going on about this, I’d be happy to participate.


    • Hi Kathleen: I’m so glad you found my blog and I’m so glad you commented! I’ve never heard of “Lhermitte-duclos cerebello pontine angle” – is that different than Lhermitte-duclos disease/gangliocytoma? I have 2 brain tumors in my cerebellum that are the gangliocytoma, very rare brain tumors. Right after this diagnosis I was diagnosed with Cowden’s Syndrome. Has anyone ever mentioned that to you?

      Thanks again for the comment and I look forward to connecting with you. It’s so rare for me to find anyone with this type of syndrome!

    • Wow, Kathleen I have recently been diagnose with Lhermitte-Duclos and had surgery on June 2 to unblock a ventricle. I am officially 221. I am only twenty five years old and have been coming to terms with the “after” and what it means if I have Cowdens. Recently, there is plans for me to get my thyroid removed. Being so young with a diagnosis, I guess I’m asking have you had a normal life after your diagnosis? Have you had any precautionary surgeries? It’s just refreshing to hear someone else was diagnose very early in their life too.

      • Hi Victoria! Do you mean me, Heather? Come to find out that 220 number of cases isn’t 100% accurate, because not all doctors report cases of LDD. Can you believe that? My docs don’t “remember” if they updated my case to that or not. Crazy! So glad you commented. How are you?

  3. Kathleen, I so wish I had found you sooner sweetie…
    It is so rare. I have a LDD tumor diagnosed about 7-8 years ago and was told after genetic testing was negative for PTEN mutation, however after continuing to seek information from Neurosurgeons, Neurologists, Oncologists and Genetic Counselors, I was told I am classified as Cowden’s-like syndrome and should concentrate less on MRI brain imaging and to follow the suggested Cancer screening by the American Cancer Society. I am also a participant in the Cleveland Clinc Study on Cowdens Syndrome and goody they know more about this genetic disorder someday.

    I have had many incidental findings from having diagnostic testing. I have a focal nodular hyperplasia liver tumor that is safe and needs not to be watched (after have a few yrs of imaging to determine what it was), I also have a Lipoma on my Pancreas, which is also of no concern. I had a benign uterine polyp removed last year as well. Oh and a few years back, benign polyps removed from routine colonoscopy. Last year during routine diagnostics for thyroid, I was told I have a 6mm nodule – I’ll be tested a second time for this later this month. I show zero signs of skin conditions so far at 42 years of age. Despite all the fun these past 7 years, I feel fortunate to know exactly what I’ve been diagnosed with and have abilities to continue diagnostics and make choices when necessary about my health. I hope others are able to seek the diagnostics they need and stay positive in realizing that at least we are able to know, rather than not know. 20 years ago, I was always feeling sick and there were never answers, no one suspected the brain tumor. I suffer(ed) from migraines and motion like sickness waking each morning (still do), I joked it was a tumor to myself and my mother – crazy it turned out to be a contributing factor years later. I NEED my sleep, without it I am a mess. You are not alone… know this and I hope my story, thusfar, helps you to deal with this odd diagnosis with very little medical facts or information. I continually need to remind different Dr’s of my genetic condition to make sure nothing is overlooked. Take charge and be in control of it, after writing this, I read your other posts, and it sounds like you are!
    (((Hugz))) oh, and without sleep, my balance is worse as well. Duh, no wonder I tripped so much all these years!

    • Kathleen? You mean – Heather? :), or do you mean Kathleen the previous commenter?

      PS, you have LDD/gangliocytoma but NEGATIVE for PTEN mutation? REALLY? I find that SO odd and SO rare indeed!

      I am so glad you found my blog and commented. Thank YOU! Do you have any social media accounts? That I can follow you on?

      Please keep in touch. PLEASE.

  4. Oh duh, sorry… of course it’s Heather! I wrote that at an ungodly hour and suffering insomnia. I’m also recovering from my third cervical spine surgery in four years and my schedules, thoughts, and movements are off. I don’t comment much on my social media accounts about the genetic condition, or tumor/s. Ha, right… nothing like freaking out a few people like telling then you have a brain tumor, right? I actually DO tell people and explain it, otherwise people would never know how common they (brain tumors) actually are. I try to keep most of my social media positive and well… I have a huge pain tolerance, however I’m in pain most days and there isn’t much positive to say about that. Don’t know exactly what causes it, it’s either my thyroid or arthritis or unknown from the genetic disorder, but my Dr believed I suffer from fibromyalgia, he just didn’t label my chart in that way; he doesn’t believe in writing me off without hopes for relief that one day we will get to the bottom of it and I’ll feel better. Sadly, he moved out of state at the end of last year and now I am in the process of testing out new Drs to find a new one. Hard to do that, if there is no reason to see one. So it’s gonna be awhile again before I’m comfortable knowing a Dr has my back again. Hoping after this surgery I can get my thyroid nodule taken care of and tested positive for thyroid condition and feel better again after treatment. I could blab on all day…

    Testing negative for PTEN… 20% off people don’t test positive for the mutation. Have you been tested?
    Yep, they know so little about LDD except that by seeing them on images, that they know for sure that is what they are. That’s why I’ve not had a core sample done. They told me that when I’m tired, my balance would be off (and it always has been). They also told me that if some day I notice gait changes or coordination issues to get in to see them right away, as the tumor may have changed and if cranial pressures changes, I may need de-bulking. My research and Specialsts confirm that not everyone with LDD tests positive for Cowdens, but they should be treated “as-like” and assumed so. For instance, I have none of the skin conditions they mention (one dr swore he saw trichilemmomas inside my nostrils), all other Dr’s confirm negative on that. My head is also on the smaller size, most people are defined by head circumference on the larger side with Cowdens, but not me. Seriously… these Drs don’t know much about it, except to check for other tumor growth. That is why I was so happy to participate in the Cleveland Clinic Study for Cowdens. I just wish they would tell me if I tested positive on another gene, the Killin gene. Hoping to re-read wiki again in the future and see more data on their study! Let me tell you also, wiki has helped me get the genetic testing I needed because one of the neurologists struggled to do what was needed to get me tested when this incidental tumor diagnosis was made. When I saw the new data from CC, I called them up and they got me in touch with a local genetic counselor (I didn’t even know they existed), and got what I needed to get covered by insurance.

    Oh geeze…. see I rambled again, hopefully didn’t repeat myself. I’ll email you my details to stay in touch.

    • Hi Lori, I was reading your comment. I was diagnosed with LDD 3 years ago about a week after my 21st birthday. I just wanted to reach out because it’s so hard finding people with this tumor. I’ve also haven been tested for Cowdens, yet. My mother and I are very sure that I do when you look at the symptoms.

  5. Hi Everyone, my name is Melanie and i’m 17 years old. I was diagnosted with Lhermitte Duclos Syndrome 1 year ago and I’m from Germany. I was at so many doctors and nobody knew about this deases and I’m looking for Informations about the Lhermitte Duclos Syndrome. I have many problems with headaches and confidence tricks. I’m also searching for an Specialist in Europe, who knows about this Deseas. I’m not tested for the Cowden Syndrome, but I will be in a few years.
    I hope anyone could help me and send me some Informations!

    • Hi Melanie! I am so glad you found my blog! When will you be tested for CS? When you turn 18? Have you seen some of the links that I have put on this page? I have found many links of information that I hope will help you. Did you also find me on Twitter? Please keep in touch OK?

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