Welcome to Pachyonychia.org
 
     

What is Pachyonychia Congenita?
PC is an ultra rare genetic skin disorder caused by a single mutation in one of at least four keratin genes including K6a, K6b, K16 or K17. PC may be hereditary (inherited from a parent who has PC) or may be spontaneous (a mutation occuring when no parent or other family member has PC). Features of PC may include:

1 Painful blisters and calluses on hands and feet (focal palmar and plantar hyperkeratosis)

2 Thickened Nails (hypertrophic nail dystrophy or pachy-onychia)

3 Follicular hyperkeratosis (bumps around hairs at friction sites such as waist, hips, knees, elbows)

4 Leukokeratosis of the oral mucosa (white film on tongue, cheeks and sometimes larynx)

5 Cysts of various types (including steatocystoma and pilosebaceous cysts)

Other features include sores at the corner of the mouth (angular chelitis); teeth at or before birth (natal or pre-natal teeth); hoarse voice (laryngeal involvement). Note: Some with PC often suffer intense pain near the jaw or ears lasting 15-25 seconds when beginning to eat. This may be connected to salivary glands rather than to ears. More research is needed on this.

More about Pachyonychia Congenita
Myths about Pachyonychia Congenita
30 Jan 2012
Remember: 2 June 2012 is PC Awareness Day Around the World!

JOIN WITH US - ANYTHING YOU PLAN WILL BE JUST PERFECT. PLEASE BE PART WITH ALL YOUR PC COMMUNITY
We are so excited here in Salt Lake City to hear about the plans individuals are making.
- We've seen a clever flyer from France with a flip-flop lined with tacks! What a great graphic. We'll share if we can
- We've heard of plans in Indiana for a great car wash event with flirty girls and car wash guys. What fun!
- We've heard about a big walk-a-thon event at TransDerm (our pharma partner) called "Count Every Step" involving the US Congressman...
- We've heard about collection...     Continued...

 
30 Jan 2012
CAMP WONDER - for children with skin disease

Each year the American Academy of Dermatology sponsors Camp Wonder for kids with skin disease. Several PC kids have attened in the past and we know one is going in 2012. There is no cost to parents for the camp. Click here to learn about Camp Wonder.  (Thanks to the PC family that reminded us about this - we've posted the announcement each year. Please let us know about your experience with the Camp).

 
23 Jan 2012
IPCRR Data Published in Journal of American Academy of Dermatology

We are so pleased that the data from the International PC Research Registry has now been published in the Journal of the American Academy of Dermatology (JAAD). The article reports data on the first 254 genetically confirmed PC patients. The registry continues to grow and we continue to learn more. A number of studies have been completed and others are underway thanks to the patients (now over 500) who participate in the IPCRR. If you have not yet taken time to join the Registry (complete the questionnaire, send in photos, complete genetic testing) we urge you to join with other PCers and help...     Continued...

 
20 Dec 2011
Registration and Call for Abstracts for IPCC 2012 Annual Symposium

Registration is now open for the Int'l PC Consortium Annual Symposium 2012. The fee is waived for those who pre-register. Abstracts may be submitted to PC Project on or before 1 February 2012.

 
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Matching Funds Report 2011
our sponsor has agreed to continue the
$2-for-$1 match in 2011

As of
1 Nov 2011
2011 Donations
$67343.00
Matching Funds
$145,000
Total
$212,343

 

Publications & Forms
Publications
  Booklet for PC Patients
  Brochure for Schools/Friends
  Brochure for Medical Professionals

International PC Research Registry (IPCRR)
  Consent Form for PC Patients
  Questionnaire for PC Patients
Participation in the IPCRR is the most important action a PC patient can take. It takes 15-60 minutes to complete the forms. Benefits for participants are many and include:
  • Free assistance with disability, insurance or other claims
  • Free genetic testing
  • Free medical consultations and coordination with local physicians
  • Access to on-line forum for/with other PC patients
  • Access to materials prepared specifically for PC patients including videos and presentations from PC meetings
There is no obligation for participation in any research study, test or experiment

 

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Last Updated: 17 May 2011
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