If you or your child has just been diagnosed, we suggest these next steps:
1. CONFIRM THE DIAGNOSIS.
Now that you have been diagnosed clinically, based on the appearance of the features (or phenotype), request genetic testing to confirm the diagnosis. There are other rare skin disorders that can share some of the same symptoms as PC. Only genetic testing, where the diagnosis is based on the specific mutation (or genotype), provides complete confirmation of the diagnosis.
PC is a syndrome of different conditions. Because of this, it is often misdiagnosed. The PC mutation is found in one of the keratin genes KRT6A, KRT6B, KRT6C, KRT16 or KRT17. There are more than 125 different mutations in these genes that have now been identified, each causing slightly different or unique conditions for patients. Genetic testing identifies the specific gene and mutation classifying it as Pachyonychia Congenita or not.
Genetic testing results provide many benefits including (a) allowing a patient better understanding of the features of their own type of mutation, (b) allowing connections with others who have the same type, and (c) enabling researchers to develop treatments to target specific genes and mutations.
In addition, PC Project ensures that patients receive complete written reports of their genetic testing findings which provide valuable documentation which can be useful in many circumstances to validate the condition.
Is it Pachyonychia Congenita (PC) or something similar?
When publishing articles on PC, we urge editors and authors to rely on data based on genetically confirmed patients and case series of patients, rather than single cases (single families) with no genetic testing. It may also be valuable to compare the information with the data in the IPCRR. Articles based solely on clinical observation without genetic information may incorrectly identify conditions as ‘pachyonychia congenita’. Because PC is a rare skin disorder, publications based on a single case or single family may include features of the family that are not actually associated with PC. Once published, the information in these articles may then be cited in other articles. In this way, conditions have become linked with PC which are totally unrelated to this disorder.
Websites may also have information that is confusing, misleading, or incorrect. For example, since the word ‘Pachyonychia’ means ‘thick’ (pachy) ‘nails’ (onychia), a search for the word Pachyonychia on the internet will bring a person to sites which list all disorders that have thickened nails. This is not an indication that the conditions associated with thickened nails are associated with the disorder Pachyonychia Congenita. Thick nails (pachyonychia) can have many causes that have no relationship to the disorder that is PC.
One goal of PC Project is our continued educational outreach effort to provide editors, authors, physicians, patients, and family members with accurate information based on a large number of genetically confirmed patients in order to assist in diagnosis, treatment, and research efforts.
Working Towards a Differential Diagnosis
A clinical diagnosis is often difficult because of similar or overlapping characteristics. For this reason, PC Project provides free genetic testing through the International PC Research Registry (IPCRR). Although some individuals with PC have been reported to have the following features, data collected on more than 1000 patients with genetically confirmed PC, indicate the following are not part of the PC syndrome:
- Baldness (alopecia)—not caused by or connected with Pachyonychia Congenita
- Deafness—not caused by or connected with Pachyonychia Congenita
- Diabetes—not caused by or connected with Pachyonychia Congenita
- Mental Retardation—not caused by or connected with Pachyonychia Congenita
- Bone deformities—not caused by or connected with Pachyonychia Congenita
- Cataracts and corneal lesions—not caused by or connected with Pachyonychia Congenita
- Early menstrual cycle—not caused by or connected with Pachyonychia Congenita
- Tooth loss – not caused by or connected with Pachyonychia Congenita
We hope the website is helpful and you are welcome to contact us at any time with any special needs or questions. The first step is to confirm the diagnosis.
PC may be diagnosed by clinical diagnosis where a physician makes a diagnosis based on the appearance of the features which the patient has (or phenotype) or by genetic testing where the diagnosis is made based on determination of the specific mutation (or genotype).
Join the patient registry now and be part of the solution for finding treatments and eventually a cure for PC! Registrants are offered free genetic testing if needed, individualized support, and notified of studies for PC treatments and other activities such as online forums, patient support meetings, and more.
2. REQUEST FREE GENETIC TESTING
Genetic testing for PC costs approximately $1000US for each patient. However, because of the importance to patients of having a correct diagnosis, at this time, PC Project provides genetic testing at no cost to patients who join the patient registry. For the testing, no travel is required and the benefit is available to patients living anyplace in the world. The steps are simple: (a) fill out the IPCRR forms, (b) provide photos of the condition, (c) receive a telephone consultation with a PC dermatologist, (d) if referred for testing, a special saliva sample collection kit will be sent, and (e) simply spit into the kit and mail it to the laboratory.
3. CONNECT WITH OTHER PC PATIENTS AND PARENTS
PC Project understands the importance of ‘community’ when diagnosed with an ultra-rare disease like PC. There are a number of opportunities to participate within the global PC community including:
- Annual Patient Support Meetings (in USA in odd years, in Europe in even years). Fees are paid by PC Project for first time attendees and scholarship awards are available for those who need financial assistance to attend.
- Webmeetings are free and are organized for specific groups, localities or needs.
- Pachyonychia Congenita Patient Chat, a private Facebook group for those who join the patient registry. This is a friendly online group where patients from around the world share tips on how they feel and deal when it comes to living with PC.
- Email contacts: If you request this, PC Project will share your email with other parents/patients who share your same PC type and/or mutation. Otherwise, your information stays strictly confidential.
- PC Awareness Events, hosted every June where you can unite worldwide with others who in spreading the news about PC.