PC may be diagnosed clinically where the diagnosis is based on the appearance of the features which the patient has (or phenotype) or diagnosed genetically where the diagnosis is made based on the specific mutation (or genotype) found through genetic testing.
If you think you have PC, or a doctor has said you may have PC, we suggest these next steps:
1. CONFIRM THE DIAGNOSIS.
PC may be diagnosed clinically, based on the appearance of the features (or phenotypes) of your condition. And while a clinical diagnosis is very important, there are other similar rare skin disorders that may look like PC. Only genetic testing provides a complete diagnosis, including the type of PC and specific mutation a patient may have.
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 their condition.
2. REQUEST GENETIC TESTING
Genetic testing for PC costs approximately $1000US for each patient through the International PC Research Registry. However, because of the importance of having a correct diagnosis, at this time, PC Project provides genetic testing at no cost to patients who join the patient registry and who have clinical signs of PC. 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 registry 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) put your saliva or spit into the kit and mail it to the laboratory.
If you wish, you may also obtain genetic testing through your own personal physician who can then order you a test at a testing laboratory.
International Pachyonychia Congenita Research Registry (IPCRR)
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.
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.
If you already have your genetic testing results, click here for more information.
No matter what diagnosis you have, the most important step a person who has been diagnosed with PC can do is to join the IPCRR.