To read PDF files, click on the icon above to get
the free Adobe Reader.

INFORMATION FOR PC PATIENTS

A major purpose of this website is to provide access to accuate information for PC patients and their family members.

PATIENT MESSAGE BOARD

The Patient Message Board is for those with PC and their family members. Everyone on the board provides full contact information and there is a double-check to keep the board secure. Remember the whole website is for you as PC patients. Please don't only check the PC Patient Message Board --although we are delighted if this is a good feature for you.

publications
All publications are provided free of charge. Please Contact Us to request copies. If you prefer, you may print the pdf files for your own use. However, if you are distributing the brochures to others, please request the official copies. Thanks.

PC Basics for Schools (click here for pdf)
A brochure for administrators, teachers and friends. Copies available on request.

For Medical Professionals and Scientists (click here for pdf)
A brochure for physicians, dentists, nurses, researchers and others interested in basic scientific information on PC and a brief overview of PC Project.

Patient booklet
We have prepared a 14-page brochure for patients with detailed information about PC. Please Contact Us to order a copy. The Booklet includes these sections
1 - What is Pachyonychia Congenita?
2 - Photos
3 - What is role of keratin?
4 - What causes PC?
5 - How did I get PC?
6 - What is learned through genetic testing?
7 - What research is being done on PC?
8 - Is there a cure for PC? What are current treatments?
9 - Will my children have PC?
10 - What professional help is available?
11 - What is the IPCRR? How can you help?
12 - What activities are funded by PC Project?
Inside Back Cover - Where can I get further information?

F.A.Q. (FREQUENTLY ASKED QUESTIONS) ABOUT PC

Do I really have PC?
There are two ways to diagnose a skin disorder such as PC.

1. Phenotype. What the symptoms look like. The symptoms of PC usually include thick nails, calluses (thick skin) on feet and palms, bumps on skin and/or cysts, a white tongue and sometimes include a hoarse voice, thin hair, etc.

2. Genotype. The specific genes K6a, K16, K6b, K17 have been identified as the genes in which a mutation occurs which causes PC. A mutation in only one of these genes results in symptoms of PC.

To really know whether you have PC or a similar disorder, to understand your own specific mutation, and to provide information so that meaningful research can be conducted, a genetic test is necessary.

Why are my symptoms not exactly like the others who say they have PC?
The answer to this is not fully known. There are several factors that may affect your personal symptoms
(1) Your mutation may be in a different gene
(2) Your mutation may be in a different location on the gene
(3) Care between individuals may make a difference in their symptoms
(4) Weather, amount of time walking, type of socks, type of shoes, etc. all may have an affect on PC symptoms
(5) Even with identical mutations individuals symptoms may vary. Besides the one gene with the mutation, there are 30,000 to 40,000 other genes. These may act as 'modifying' genes and be one reason for differences in the symptoms from patient to patient. For example, just as hair and nails grow faster/slower in people without PC, so PC patients may have growth factors or pain factors or other factors which make their symptoms very different one from another. And, each PC patient may react very differently to various treatments.
(6) In some instances, some other diseases sometimes mimic PC but are not caused by the same mutations and are classified as PC.

Are there treatments that help?
At this time there are no treatments that provide long term benefits. Good, consistent, frequent care whether at home or by others is the best 'tip' currently available from patients and physicians.

What cure is expected?
PC is such a rare disease that not enough information has been gathered for physicians and scientists to find answers or see patterns or develop a treatment or cure as yet. We believe the results of genetic tests on all PC patients will be essential in research analysis and scientific progress towards a cure.

We believe a cure for PC will be developed in stages -- first things that will help the symptoms and ultimately gene therapy that will either turn off the defective gene, turn down the defective gene sufficiently to stop the symptoms, or turn up the good gene in the pair.

Patient-To-Patient Tips

Our first DRAFT Patient-to-Patient Tips spreadsheet is posted here. There is no current treatment which provides any high quality, lasting improvement. Therefore, PC patients have learned many ways to cope with the symptoms and problems of PC. We'll appreciate feedback on this feature. We intend to glean information from Patient Message Board, emails, consultation notes, Patient Suppor Meetings. Please read the disclaimer and understand that for medical adivce, patients should contact their personal physician.

PHYSICIANS WHO TREAT PC

One goal of the PC Project is to identify physicians who have an interest in treating PC patients. These listings will be a resource for patients who are searching for care and for primary care physicians who need to consult with a specialist.

PC is such a rare disease that many doctors have never seen a PC patient. We believe this resource will be an important service to local physicians who may wish to consult another physician who is a PC specialist to discuss care for their PC patients.

Please be sure to tell your physician about our website and ask them to contact PC Project. The more patients and doctors we can enlist, the better the research programs will be and the sooner we will meet our goals. The following are general links to assist patients in finding a dermatologist.

FINDING PROFESSIONAL HELP

The following is from the For Patients Brochure:

You may find help from several different specialists as you manage and care for your PC symptoms. Medical doctors (MDs) who treat patients are called physicians or clinicians. These may include:
A general practitioner — a medical doctor who treats general medical needs.
A pediatrician — a medical doctor with additional special training in treating children.
A dermatologist — a medical doctor with additional special training in diseases of the skin (such as PC).

Scientists and researchers (PhDs) do not treat patients, but work to find treatments and cures. Some MDs also have PhD training (MD, PhD). These doctors see patients and also are engaged in scientific research.

A podiatrist or chiropodist is not a medical doctor, but is trained in problems with the feet and often can provide debridement (removal of the calluses) and training in self care for PC patients. Nurse practitioners and other professionals may also be helpful in the care of PC.

PC patients may need medical services on a regular basis including quick access to prescriptions for antibiotics when infections arise, removal of cysts, debridement of calluses, treatment of laryngeal problems and other care related to the varied symptoms of PC.

Because PC is so rare, even the most skilled and trained professionals may never have seen another case of PC. You can assist these professionals by providing reference materials such as brochures and research articles. These are available through the PC Project. However, some medical professionals will not welcome information from patients or may not have time to review such information.

A good relationship with caring, knowledgeable and responsive medical professionals can make a great difference. For people with PC, it is worth every effort to find and maintain an excellent doctor-patient relationship.

NOTE: If you are unable to locate medical professionals to provide care for you or your child, please contact PC Project. We will ask our medical advisors to assist with referrals.

The following links may be helpful in finding a dermatologist.

American Academy of Dermatology
Dermatologist.com
Dermatologists - State by State Index
How to select a Dermatologist
New Zealand Dermatological Society

GENETIC TESTING

For a limited time, PC Project will provide free genetic testing to PC patients who are part of the International PC Project Research Registry (IPCRR). More than $20,000 has been set aside for this project and grants from other organizations including DebRA will cover part of the funding. There will be no cost to those who participate. We have received approval form WIRB (Westerm Institutional Review Board)! and the IPCRR Registry is now active. Please register and please be tested. We believe this will be such an important part of our progress towards a cure.

DNA stands for deoxyribonucleic acid and is the hereditary material found within the cells of all living things. DNA exists in cells as two closely associated strands. In humans the strands of DNA are grouped into structures called chromosomes. On these chromosomes are regions that contain important information. These regions are known as genes. The genes provide information that the cell need to grow, develop and function properly.

For PC Project, two types of samples will be used. (1) First, blood samples will be tested by Drs. Irwin McLean and Frances Smith (and associates) at the Epithelial Genetics Unit, Unveristy of Dundee, Scotland. We believe this is the leading PC research center. Once the full diagnostic tests are completed, then (2) mouth cells will be tested by Dr. Sherri Bale (and associates) at GeneDx, an outstanding genetic testing laboratory in the U.S., for a confirmation of the findings. This second test is required for those residing in the US so that results can be provided to the patients.

For more information on genes, genetics, DNA see the Links and News section of the website under Genetics. An excellent article entitled Genetic Testing co-authored by Dr. Sherri Bale appeared in the Spring 2004 issue of FOCUS, the quarterly Newsletter of F.I.R.S.T. Dr. Bale is with GeneDx (see below) the laboratory that is assisting PC Project with genetic testing.

Genetic testing will be used to determine the precise sequence of the DNA (deoxyribonucleic acid) within the genes associated with PC to determine the specific mutation a person has. This will greatly assist the efforts of scientists interested in PC research.

Click Here For VIDEO of MAY 2004 Patient Discussion Meeting

Very little research has been done on PC.

When PC Project was first organized in November 2003, only a very few patients had completed genetic testing. Throught the IPCRR, more and more patients are finding their specific mutation information. These results are providing more information for the researchers and scientists working to find therapuetics for PC. [See Genetic Testing above and the IPCRR Registry section of the website.]