Pachyonychia Congenita Project

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What is Pachyonychia Congenita?
PC is an ultra rare genetic skin disorder caused by a single mutation in one of at lease 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

	Spotlight & News	RSS
Grand Opportunity (GO) Grant awarded for research to develop effective delivery of nucleic acids (siRNA) to skin. New Patient Home Page rolled out at 2009 Patient Support Meeting Jan's Corner July/August 2009 Update. Clinical Study . Dr. Peter Hull, Saskatchewan, Canada has received approval for a PC clinical study on an approved drug which may reduce keratin expression for PC patients. The study has been extended and expanded to additional patients.

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Publications Booklet for PC Patients Brochure for Schools/Friends Brochure for Medical Professionals Brochure for Fundraising 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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www. pachyonychia.org Launched 1 August 2008 Registration is free and gives you access to additional information and benefits for patients, medical professionals and scientists including: Additional Images with commentary Consultations with experts for patients and physicians IPCC membership for scientists and physicians IPCRR statistical data Newsletters (past and current) Patient-to-Patient Tips Videos and Presentations Webinars Note: Everyone must register for access on this expanded site even if you participated on the previous website. After you register, please check your inbox for an email confirmation. If you are already an IPCRR participant, you will receive a second email within one business day confirming your access to the full website.If you register at night or on the weekend (when the PC office is closed), the second email will usually not arrive until after our office opens the next business day. You may need to refresh your page for your correct website status to display properly.