PaCHYONYCHIA CONGENITA

WHAT IA THE DISORDER

• Primarily affects the skin, nails, and mouth.
• It is caused by a mutation in any one of four genes that code for keratin proteins

HOW THE DISORDER IS PASSED DOWN

• Mutations in the KRT6A, KRT6B, KRT16, and KRT17 genes can cause pachyonychia congenita.
• The disorder exhibits an autosomal dominant inheritance pattern. (learn.genetics.utah.edu)
• It is on chromosomes 12 and 17

WHO IT EFFECTS

• It effects almost everyone.

SYMPTOMS

• Other common PC symptoms include blisters and calluses on the palms of the hands
• A white growth on the tongue, and a variety of cysts.

TREATMENTS

• There is no cure for PC, and drug therapies are limited.