Pachyonychia congenita (PC) is an inherited skin disorder. The most common symptoms of PC are focal plantar hyperkeratosis, hypertrophic nail dystrophy, follicular hyperkeratosis, and leukokeratosis of the oral mucosa.
Secondary symptoms may include palmar hyperkeratosis, alopecia or other hair changes, laryngeal involvement, and steatocystoma and pilosebaceous cyst formation. Currently, there is no cure for PC. Patients manage their symptoms in a variety of ways, but no successful drug therapy for this disease has been developed.
The PC Project is a patient support group that helps individuals affected by this disease. The PC Project actively seeks patients with PC, offers help and support, arranges genetic testing to confirm the diagnosis of PC, organizes meetings for patients and researchers, and sponsors research to develop new treatments for the condition.
IPCC Annual Meeting
More than 50 people attended the International Pachyonychia Congenita Consortium (IPCC) annual meeting in Los Angeles on May 9, 2007.
At this gathering of researchers and clinicians, Dr. Foldvari talked about one of the biggest challenges in gene therapy — the transfer of DNA, encoding a specific gene, into cells and the subsequent expression of the resulting therapeutic protein in sufficient quantities in vivo.
To this end, Dr. Foldvari and her team are investigating the use of gemini nanoparticles as novel delivery vehicles for topical application of many different genes. This nanoparticle technology uses positively charged gemini surface-active molecules that clamp around the negatively charged plasmid DNA, causing the DNA to compact into 100-200 nm diameter particles in a characteristic structural pattern.
Gemini nanoparticles have been used successfully in the Tsk1/+ scleroderma mouse model, where her group demonstrated the therapeutic effect of plasmid DNA coding for interferon-gamma after topical treatment.
To learn more about PC and the activities of the IPCC, please visit these links —