Step Up For A Cure: Pachyonychia Congenita Awareness – June 2014
Pachyonychia Congenita [Pronounced “Pack-e-o-neek-e-uh” “Kun-jen-i-ta”]
(pachy=thick + onychia=nails + congenita=present at birth)
What is Pachyonychia Congenita?
Pachyonychia Congenita (PC) is a rare blistering skin disease which affects the skin, nails and mouth of both adults and children. Those with PC experience constant pain from blisters and thick calluses on the soles of the feet. Many affected must rely on walking aids such as crutches, canes or wheelchairs and all patients are in pain walking even short distances. Painful cysts are also a main feature for some types of PC. Other common PC symptoms may include painful calluses on the palms of the hands, a white keratin film inside the mouth and on the tongue and larynx or sores at the corner of the mouth.
How do people get PC?
PC is caused by one single mutation in one of the keratin genes. Keratins are proteins that form tough fibers that strengthen skin. When there is a mutation the skin cells are fragile and do not form correctly. Although PC is a genetic disorder, nearly 50% of cases are spontaneous and there is no family history of the disease.
How is PC treated?
There is currently no cure or effective treatment for PC. Patients typically must manage their own symptoms and frequent trimming and filing of calluses and nails is required.
How will funds be used?
All funds raised in PC Awareness Events around the world will be matched 2-for-1 and all donations will be used 100% for research and patient support. PC Project sponsors a patient registry, provides free consultations and genetic testing. In 2014, PC Project is sponsoring several clinical trials in 2014 to develop effective treatments for PC that will benefit all patients.