...MORE ABOUT PACHYONYCHIA CONGENITA
TYPES OF PC
In medical literature, there are two classifications of PC: PC-1 Jadassohn-Lewandowsky type and PC-2 Jackson-Lawler type. Mutations in K6a and K16 are associated with PC-1 and mutations in keratins K6b and K17 are associated with PC-2. However, the data from the International PC Research Registry (2004-2008) indicates that PC patients share many features regardless of the classification or gene in which the mutation occurs. To access current statistical data from the International PC Research Registry, click here to register with PC Project.

DIAGNOSING PC—DO I REALLY HAVE PC?
Phenotype. A physician may make a diagnosis based on the appearance of the features which the patient has. Although clinical diagnosis is important, without genetic testing many with PC are misdiagnosed. Others are classed as PC patients who have other related disorders.

Genotype. This is based on determination of the specific mutation in the genes K6a, K16, K6b, K17. Only through genetic testing is it possible to verify a diagnosis of PC. Because this information is so essential to successful research, genetic testing (which costs up to $2,000 per test) is provided as an optional free benefit to those who register with the International PC Research Registry.

RELATED DISORDERS
Mutations in other keratin other genes cause PC like phenotype conditions. For example, mutations in Connexin30 & certain mutations inK16 or K6C cause palmar and plantar keratoderma but no nail phenotype in found.

Other related disorders include ichthyotic conditions, epidermolysis bullosa and palmoplantar keratodermas. In some instances, PC patients have been tested for thrush, leukoplakia, and fungal infections of the nails before a correct diagnosis has been found..
Click here for Myths About Pachyonychia Congenita
Home