Tag Archives: pemphigus

The main physical manisfestation of the P/P diseases is the presence of blisters on the skin and mucous membranes. Underlying those blisters are numerous molecular processes including recognition of keratinocyte cells of the skin and cell death. But how these blisters actually form, that is, what is the order of events leading up to their formation, has not been clear. A recent study by scientists Parviz Deyhimi and Payam Tavakoli suggests that in pemphigus vulgaris (PV), cell death comes first, then the formation of blisters (Journal of Oral Pathology and Medicine, doi: 10.1111/jop.12022).

The blisters that form in PV are referred to as lesions, or suprabasal vesicles, because of where they are found within the layers of the epidermis (supra meaning above, so above the basal layer, see Figure 1a). Because they are found so deep within the tissue, the blisters formed and PV disease itself is considered more severe than pemphigus foliaceus, where the blisters appear within the granular layer. The lesions formed during PV and in other mucocutaneous autoimmune blistering diseases are formed when the rogue antibodies formed during disease recognize proteins found at junctions formed by keratinocyte cells interacting with one another. The loss of these junctions that generates the tear in the skin is called acantholysis. Acantholysis is more than a tearing of the skin.

There is also cell death (also called apoptosis) within the lesions. But it has been unclear when and where apoptosis occurs with relation to acantholysis and to recognition of the junctions by antibodies generated by the immune system of the patient. Besides the ordering of events, it has been unclear which of the various types of apoptosis are at play. In the intrinsic pathway of apoptosis, a cell essentially commits suicide because of an internal trigger, perhaps as part of a genetic program as occurs during cell or tissue development. In the extrinsic pathway, the trigger to commit suicide is external. Perhaps this is where the antibodies of PV patients play a role, then? At least two models, both with excellent experimental support, exist for the ordering of events.

The first suggests that apoptosis is a late event in pemphigus and that it is not required for acantholysis and blister formation, while the second suggests that apoptosis occurs early, before significant acantholysis. A related viewpoint to the second is that the two occur simultaneously, though independently, though evidence exists for apoptosis actually causing acantholysis. For instance, chemical inhibitors of apoptosis have been shown to prevent lesion formation and a time-course study has shown that apoptotic cells were present before blisters in pemphigus foliaceus. The current authors looked at tissue samples from 25 patients with oral lesions due to PV. They used immunohistochemistry, the same technique that is used to diagnose PV.

Looking closely for regions where normal lesion-free tissue was adjacent to lesions, so-called peri-lesional regions, they found that 100% of the cells within lesions had fragmented DNA, the hallmark of apoptosis. In the adjacent normal tissue (in the parabasal region) of most of the samples, 75% of the cells had the marker of apoptosis. Looking at the acantholytic cells within the lesion, the result was strikingly close to 75%, at 76% and at the roof of the vesicle, it was even higher, at 80%. Given the presence of apoptotic cells in the lesion-free patient tissue, the authors concluded that apoptosis is not a late event, but an early one that may cause acantholysis. Recognizing that the structural damage (acantholysis) and death (apoptosis) of keratinocytes are mediated by the same molecular players – the caspase enzymes.

Research led by Sergei Grando has proposed a novel theory of“apoptolysis”, combining the two terms. The work of Deyhimi and Tavakoli supports this model and suggests that once a threshold level of apoptotic cells exist in the basal cell layer, somewhere north of 80%, then a lesion will form. According to the authors, conventional therapy of PV consisting of high-dose corticosteroids is based on the hypothesis that acantholysis leads to apoptosis, so it will be critical to unravel the current results and to determine if treatments might be tailored differently in the future. How apoptosis leads to formation of blisters and how antibodies to desmogleins may promote apoptosis is still under investigation, but one additional piece of information from the current work is that based on the absence of another cell death marker, Bax, the authors suspect the extrinsic cell death pathway.

The pieces to the pemphigus puzzle are beginning to be unraveled. Driven by the fact that the more we learn about the molecular events leading up to blisters, the more chances there will be to intervene before debilitating blisters can occur.

This article is meant for those of you who have recently or about to move to a new area. After living in the greater Seattle area for 58 years, I moved to the San Francisco Bay area in August ‘14.

I encountered more challenges that I had expected. I had to find new medical insurance, since the company that I was with in WA isn’t licensed to cover in California. I also had to find a new dermatologist and general practitioner.
First, I had to decide on what kind of insurance to get. In WA I was with a company for around four years. They were much like Kaiser in the west. You can only go to Kaiser providers, labs and prescription services. I was used to this system, however it felt restrictive. The other option was to pick an insurance company that was a PPO.

Finding a GP was probably the hardest, in the sense that I felt a bit like I was shooting in the dark. My insurance agent unofficially suggested I look for a doctor within the John Muir system. They are close, and generally good. It was much easier to find a dermatologist, because I already knew who I wanted. When moving though you should always contact the IPPF and have them re-send you the physician’s referral list. This way you can see the doctors in your new area.

I was familiar with Dr. Peter Marinkovich at Stanford Medical Center. He is on the medical advisory with the IPPF and I have heard him speak before. I felt great about working with him, and his staff. It’s over an hour drive away from me, but worth it.
I have a few suggestions to keep in mind. If you are moving due to a job change, or your spouse’s, then I believe you are more restricted if you don’t want to self-pay. Read up on what kind of choices you have for a dermatologist in your area. Talk to your insurance company’s customer service if you have any questions regarding coverages. Find out how much experience the dermatologist has treating pemphigus/pemphigoid. In addition to that, it’s important to be able to feel connected, and your doctor understands you.
If you need help finding a dermatologist, feel free to contact Noelle Madsen at the IPPF office. She can make some recommendations, as well as send you a list we have. She can be reached by phone at 916-922-1288 x105 or by email at noelle@pemphigus.org.
Remember, when you need us we are in your corner!

Having a rare disease like pemphigus or pemphigoid can make you feel like you have lost control of your life. After being diagnosed you may experience fear, confusion, and you may feel unclear about your future. You may even feel helpless, vulnerable, and at the mercy of others. Your self- esteem may be compromised along with your immune system. The anxiety or stress that can bring may be overwhelming. The good news is that these feelings are normal and more importantly that you truly do have the power to stay in control!

Here are a few tips on how to keep calm and stay in control:

1.      Offer help to others – this will help you keep your disease in perspective

2.      Find the “silver-lining,” in every situation – there is always something positive to gain

3.      Respect and accept that you can’t control everything – the sooner you realize this, the better!

4.      Don’t be a victim, be a contender!

5.      Be proud of yourself – every day is a step in the right direction

6.      Learn about your disease – knowledge is power

7.      Be self-determined – you are the master of your fate

8.      Speak up for yourself – being heard builds affirmation

9.      Consider how your disease will help you grow as an individual

10.  Don’t be afraid to ask for help and support!

You are not in this alone and there are many patients that are experiencing the struggles that you are going through. If you reach out to others through the IPPF you will find that you really are in control and together with other patients like you we have the power to overcome this disease.

Not sure how to connect with others?  Just “Ask a Coach!” Remember, when you need us, we are in your corner!

Living with a bullous skin disease is a challenge in more ways than one.  In addition to taking medication we also need to be taking supplements, avoid certain foods and spices, take caution in how we move and bathe, and relax to reduce stress.

We also need to take extra precautions against the sun’s harmful rays…more so than the average person who does not have pemphigus or pemphigoid.

It isn’t always a sunny day that can bring the harmful rays.  Cloudy days can be deceiving – you can get your worst sunburns through the clouds.  Reflections from the water in swimming pools, lakes, oceans, etc. increase the harmful effects of the sun’s rays as well as the reflections from the snow when skiing.

Women also need to make sure that their foundation has an SPF ingredient – this was told to me by the national makeup advisor for Dior.  I never knew this!  But it does help…even if we don’t actively stay out in the sun and are just running around doing errands.

According to the American Academy of Dermatology:

“Dermatologists recommend using a sunscreen with an SPF block of at least 30, which blocks 97% of the sun’s rays.  Just make sure it offers a broad-spectrum (UVA and UVB) protection, an SPF of 30 or greater, and is water resistant.”

Before trying to figure out which brand is the best to buy, discuss with your dermatologist. He/she can make suggestions for you based on your skin’s level of activity.

Don’t forget your ears, too!  Ear lobes are very sensitive and need protection. For those of you with scalp involvement, it is best to consult with your dermatologist who will recommend what sunscreen products are best for the scalp.  Hats are advisable when venturing outside.  Solid hats…not straw as the sun’s rays will stream through the weaves and cause damage!  Take extra care with the “driver’s arm” — you know, your arm that is exposed to the sun when you’re driving?  The sun’s rays are intensified through the glass windows. Best to be sure you are either wearing long sleeves or extra sunscreen.  If you are going in the water, sunscreen needs to be reapplied often.

UV radiation also impairs the skin’s immune system in alarming ways. Sun exposure reduces the number of watchdog cells that help recognize and respond to antigens, and alters their function so they are as effective as dozing prison guards. “This effect on immune suppression can set in even before a sunburn,” Dr. Baron said. Reference: http://www.nytimes.com/2009/05/14/fashion/14SKIN.html?pagewanted=all&_r=0

Remember, when you need us we are always in your corner!

Studies have shown that there is a mind-body connection.  It is known that stress can cause headaches, muscle aches, tummy aches, and blisters!   For those affected by pemphigus and pemphigoid (P/P), when your stress levels are high, the antibodies know when it is time to come out and play.  Horrors!  It is easier said than done to remain calm and stress-free.

Have you experienced when you have a headache and you worry more about something and the headache gets worse?  That is an example of the mind-body connection.

The brain signals the immune system, and we never know until after it happens.  In order to ward off these signals, it is important for patients to remain even-minded.  HA!  You say!  You’re right!  However, there are ways for us to get better at this.  It just takes practice.

Meditation can be very helpful.  Even if only for 5 minutes at a time.  Never feel that you must sit in a lotus position and keep stiff for an hour!  That is not what meditation is about!

There are a lot of meditation videos on YouTube that you could take a look at.  Just type in the word “Meditation” and a lot of suggestions come up!

Breathing exercises are a great way to help keep your blood pressure down. They help to bring a sense of calmness to envelope you.  Essentially, you are inhaling slowly to a count of 10 or 20 and holding the breath for 10 or 20 and then exhaling slowly for 10 or 20.  When you exhale, think of a happy word (like an affirmation) ie: joy or peace.

Deciding whether you should continue working or go on Social Security Disability is a tough decision. It can add to your stress level and worsen your disease activity. Before you rush into any decisions you should take inventory of how you are feeling physically, emotionally, and spiritually. Your job or career can have a significant impact on these aspects of your health. It’s important to understand how your job is affecting you. If you feel like you need to be on disability you should consider the following:

  • Will you be on long-term or short-term disability?
  • How will it affect your recovery and ability to reach remission?
  • How will it affect your insurance coverage and drug costs?
  • How will affect you financially?

Once you have decided, contact your physician and let them know that you need their assistance in the process. Your physician will need to provide information that confirms that your condition is severe and that you can’t do the work you previously did due to your condition. Apply immediately at www.ssa.gov so you can start the process.

Both you and your physician will receive a health questionnaire about your condition. Make sure that you and your doctor list all impairments that prevent you from working including medication side effects. Be aware that an interview may be held to determine your health condition. Keep copies of all your paperwork, health records, and track your conversations. Get to know your case worker as they will have influence in the decision process.

In many cases Social Security Disability claims can be denied the first time. Don’t let this discourage you! You can always file an appeal with additional medical information that can substantiate your claim. The IPPF can also help provide information about the disease that may help educate individuals regarding the severity of the disease.

Bullous Skin Disorders are included under listed impairments and in many cases Quick Disability Determinations (QDD) can be made depending on the severity of your disease. Receiving benefits, like your disease, take time so the sooner you apply the better! Although the process may seem daunting, your health may depend on advocating for yourself.

Don’t be afraid to contact the IPPF if you have a question or just “Ask a Coach”! Remember, when you need us, we’re in your corner!

My name is Todd Kuh and prior to December of 2010, I was a healthy, active person who had a passion for bicycle racing.  After being diagnosed in December of 2010, I was a Pemphigus patient and no longer an athlete.  My physician informed me shortly after my diagnosis that I would not race again.  He explained that physical and emotional stress must be carefully monitored and controlled from that moment on as stress could trigger the disease.  As I sat in the exam room I heard “Chronic disease”, “no known cure”, “painful”, and “potentially life threatening” and wondered how I would tolerate this new reality. 

On my way from the physician’s office that afternoon to the pharmacy to purchase my bag of medications (trying to figure out what just happened to my life), I decided to take one last bike ride.  As I rode that afternoon, still feeling strong from the countless hours of training, I suddenly realized that I would never feel this way again.

I always believed that I was blessed to be able to ride and race my bike and never took a single ride for granted.  Throughout my medical treatment, I leaned on friends, family and lessons learned from training and racing to provide me with the positive attitude I needed to overcome this disease.  Although I practiced a healthy lifestyle prior to diagnosis, I implemented a revised health and meditation program that would maximize the treatment I received.

After nearly three years of intensive treatment under the careful watch of Dr. Sergei Grando at the University of California, Irvine, School of Medicine, through healthy lifestyle choices and with the incredible support from friends and family, I’m in remission.

Dr. Grando again cautioned me of the factors that could contribute to relapse, which included physical stress.  He assured me that should I choose to return to training and bicycle racing, my remission would most certainly be brief.

I realized that a healthy lifestyle incorporates exercise, which of course would be moderate in my case.  With Dr. Grando’s approval, I began cycling again.  As the months passed and my fitness slowly began to return, I realized that I was capable of doing more than I or Dr. Grando believed I could.  However, I battled with the constant fear that my exercise program would trigger a relapse, which created unnecessary stress.

I connected with the IPPF and spoke with Victoria, a Pemphigus patient who told me about her running and physical activities.  We shared our stories and were surprised and encouraged to learn that we both successfully live moderately active lifestyles while in remission.  We agreed that exercise contributes to a variety of health benefits in addition to our sustained remission.   My conversation with Victoria simply changed my life and gave me confidence that I could live an active lifestyle, which further contributed to my emotional well being.  I’m certainly much slower and I don’t go very far, but I cherish every pedal stroke!

Once I realized that I was capable of a level of physical activity beyond what I previously expected, I began to experience the calming meditative qualities that exercise provides.  Simply, moderate exercise reduces stress.  While this is certainly not news to anyone, it’s critical for Pemphigus patients.

It was at this time that Victoria and I realized that a healthy program integrating sound nutritional choices, active stress reduction and moderate exercise would greatly benefit Pemphigus and Pemphigoid patients

Chasing Down Pemphigus and Pemphigoid is a program intended to provide hope and a new perspective to the patient community, raise funding for critical research studies, awareness and patient support programs while promoting active, healthy lifestyles as a critical part of disease management.

The Chasing Down Pemphigus & Pemphigoid program is an ongoing campaign that challenges every patient to make better nutrition choices, go for a walk each day, take a yoga class, meditate, take on a new hobby or do anything that improves our health, attitude and emotional well being.  Chasing Down Pemphigus & Pemphigoid is about proving that we can do more than what was thought possible.

The IPPF is a small non-profit foundation that provides important patient programming and support.  While Chasing Down Pemphigus & Pemphigoid is first and foremost a year-round program designed to motivate and support patients in their efforts to live healthy and active lifestyles, it is also a critical fund raising campaign that assists the IPPF in continuing to provide all of the support we all greatly appreciate.

Check your mailbox and your email box in the coming months for Chasing Down Pemphigus & Pemphigoid articles on nutrition, stress reduction, exercise, support and patient stories (including YOUR story!).  Can’t wait?  Then email me at: todd@pemphigus.org or Victoria at: Victoria@pemphigus.org to get going.

Dear pemphigus & pemphigoid community,

The House of Representatives is expected to vote on H.R. 6, the 21st Century Cures Act, the week of June 15th. The IPPF is urging our patient community to show its united support for this crucial legislation by contacting your representative today and ask them to co-sponsor H.R. 6, the 21st Century Cures Act.

This bill includes many provisions that could benefit our community and the rare disease community as whole including:

  • Billions in funding for the National Institutes of Health (NIH)
  • Hundreds of millions dollars in new funding for the Food & Drug Administration (FDA)
  • The OPEN ACT, which contains incentives that could double the number of rare disease treatments
  • The CURE ACT, that requires companies to publish expanded access policies
  • Patient focused drug development
  • It’s easy. Don’t wait! Go to this link to make your voice heard: http://www.congressweb.com/KAKI/39

For those not familiar with an action alert here are some simple instructions:
1. Click on the link above
2. Fill in your street address & zip code and click “take action”
3. Fill in the rest of your personal information and a personal message (optional) about what 21st Century Cures means to you
4. Review your message and click “send”

For more information on 21st Century Cures you can go to: http://energycommerce.house.gov/cures

For questions or if you are interested in getting involved in advocacy for the pemphigus & pemphigoid community, please contact Marc Yale marc@pemphigus.org

Preparing for your doctor’s appointment can help you get the most from your visit. Taking an active role in your care will make you an empowered patient. In addition, proactively learning about your disease will improve your healthcare and treatment experience. Collecting the information needed before a doctor’s appointment can ensure that you are organized and strengthen your doctor-patient relationship. Here are ten tips on how to prepare for the visit that will assist you in feeling better when you leave the doctor’s office.

1.      Have all your questions answered. Bring a checklist, and be ready to take notes

2.      Schedule enough time & bring your prescriptions

3.      Address priorities first & clarify concerns

4.      Remember to say “Thank You”

5.      Learn what tests are needed before the visit (if any)

6.      Have copies of your medical records

7.      Get a summary of your visit when you leave

8.      Fill out medical release to get your records

9.      Be patient

10.  Be confident and share your knowledge

Sometimes it is valuable to gain a second, third, or even fourth opinion when seeking a treatment for pemphigus and pemphigoid. Additional opinions also provide an opportunity for you to learn more about your condition and it can offer some peace of mind that you are approaching your disease with the best chance for a favorable outcome.

Remember, if you have questions don’t be afraid to “Ask a Coach” because when you need us we are in your corner!

H.R. 6, The 21st Century Cures Act of 2015, continues to gain broad support in the United States House of Representatives. The legislation will; increase the development of research through the National Institutes of Health, improve patient-focused drug development, accelerate the approval process for new medical therapies, provide guidance on Precision Medicine, modernize the clinical trial process, expedite patient access, and streamline data and health information.

The IPPF urges you to email the following Congressional Representatives and thank them for their support in co-sponsoring H.R. 6, the 21st Century Cures Act of 2015:

New Cosponsor: Rep. Jim Costa [D-CA16]

New Cosponsor: Rep. Timothy Walz [D-MN1]

New Cosponsor: Rep. Ben Luján [D-NM3]

New Cosponsor: Rep. Christopher Gibson [R-NY19]

New Cosponsor: Rep. Bill Johnson [R-OH6]

New Cosponsor: Rep. Bill Flores [R-TX17]

New Cosponsor: Rep. Julia Brownley [D-CA26]

New Cosponsor: Rep. Lois Frankel [D-FL22]

New Cospo nsor: Rep. Rodney Davis [R-IL13]

New Cosponsor: Rep. Cheri Bustos [D-IL17]

New Cosponsor: Rep. Joseph Kennedy [D-MA4]

New Cosponsor: Rep. Ann Wagner [R-MO2]

New Cosponsor: Rep. Joaquin Castro [D-TX20]

New Cosponsor: Rep. Barbara Lee [D-CA13]

New Cosponsor: Rep. John Sarbanes [D-MD3]

New Cosponsor: Rep. Robert Latta [R-OH5]

New Cosponsor: Rep. Steve Scalise [R-LA1]

New Cosponsor: Rep. Gregg Harper [R-MS3]

New Cosponsor: Rep. Pete Olson [R-TX22]

New Cosponsor: Rep. Adam Kinzinger [R-IL16]

New Cosponsor: Rep. Mike Pompeo [R-KS4]

New Cosponsor: Rep. Chris Collins [R-NY27]

New Cosponsor: Rep. Mimi Walters [R-CA45]

New Cosponsor: Rep. Rick Allen [R-GA12]

Click on the link to go to your Representatives website and contact them. Please use this sample letter to assist in writing your email.

If you have any questions or would like to be more involved in IPPF advocacy, please contact marc@pemphigus.org