Pachyonychita+Congenia-Aeberli+B.

Pachyonychita Congentia
 * Description: **

A rare disorder that affects the skin, nails, and mouth. It strengthens whatever grows out of you like nails. It does not affect your lifespan but you do have constant pain. Only found in mutations in the Keratins 6a, 6b, 16 and 17 are linked to this disease.


 * Inheritance: **

This disease has an autosomal dominance inheritance pattern. However, if your parent does not have this disease, if a healthy egg or sperm have a mutation in one of the Keratin genes you’ll show symptoms. Most commonly it will happen when a mutation happens in the early stage in embryonic development, almost right after the egg is fertilized.


 * Punnett Square: **


 * Symptoms: **

Pachyonychia means “thick nails” so that is one of the symptoms; however, it’s more commonly seen as blisters and thick calluses on the soles of your feet. Sometimes you’ll have those same symptoms on the palm of your hand, and rarely will there be growth on your tongue. Symptoms for children that are more common are, bumps around hair follicles and intense short ear pain.


 * Diagnosis: **

There are two types of this disease even though they are slightly different. Doctors look for specific PC symptoms because they vary. Sometimes you are confirmed by genetic testing.


 * Treatment: **

There is no cure because the medicine is limited and it can get infected if you trim or file your nails. However, soaking your feet can comfort you.

Gene silencing is a promising new technology that one day may be used to treat PC. Normal Keratin filaments form a strong structural network that enables cells to withstand pressure and stretching.
 * Interesting Facts: **

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 * Support Groups: **

<span style="color: black; font-family: Times,serif; font-size: 12pt;">Pachyonychia Congenita Project


 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Sources: **

<span style="color: black; font-family: Times,serif;">www.lear.genetics.itah.edu [|www.­pachyonychia.­org] [|http://www.dermis.net] [|http://archive.student.bmj.com]
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Pictures: **