To read PDF files, click on the icon above to get
the free Adobe Reader.

IMAGES

These images show the clinical features of Pachyonychia Congenita and each image is from a patient that has a confirmed mutation in one of the four keratin genes which cause PC (K6a, K6b, K16 or K17).

We are grateful to participants in the International PC Research Registry (IPCRR) for contributing these photos. This is the first time we have been able to post only photos of patients with genetically confirmed PC mutations.

We know that many published images, including many in the literature, are for persons with disorders similar to PC, but not genetically confirmed as PC. As more patients participate in the IPCRR, a greater understanding of the facts of PC is possible.

PC Cysts (the photos clearly show that contrary to published information, cysts are not only found in PC type II patients (K6b or K17, but are also evident in PC type I patients (K6a or K16).
PC Feet (the blistering and calluses form in a variety of patterns and degree of coverage which varies from patient to patient; the level of pain is not always directly connected to the visible hyperkeratosis)
PC Follicular Hyperkeratoses (most prevalent in children and lessens after teen age years for most patients; difficult to photograph!)
PC Nails (nails vary both in thickness and in type with some nails ending prematurely leaving keratin 'debris' without a nail top covering)
PC Palm (not nearly as common as plantar keratoderma
PC Tongue (the leukokeratosis varies greatly; this is NOT leukoplakia and is not pre-cancerous)

Why have images on this wesite?

The images are so important. Here are just a few of the reasons -- (1) Images are one of the major tools used by dermatologists in the diagnosis and treatment of skin disorders. Because PC is so rare, these images will assist physicians around the world (who may only see one PC patient in their lifetime) to have a valuable resource to draw upon. (2) PC patients will be able to see pictures and identify with other photographs hat match 'their' form of PC. (3) Research scientists rely upon and need many images as they analyze PC to search for similarities, differences and to gain the understanding necessary to successfuly progress towards a cure. For a research scientist, these images may be the ONLY place they 'see' PC. (4) as genetic testing is completed, it will be possible to show the exact mutatation (genotype) together with the image (phenotype) which will be tremendously useful in the scientific studies. Please continue to share your photos and please let the genotype be listed if that is available.