Pachyonychia

Pachyonychia congenita (often abbreviated as 'PC') is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain. Pachyonychia congenita (often abbreviated as 'PC') is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain. Pachyonychia congenita is characterized by a clinical triad present in 97% of people with PC by the time they turn 10 years old: Other signs and symptoms found in PC include: The condition is caused by genetic mutations in one of five genes that encode keratin proteins. Three keratin genes were identified to have a role PC in 1995 with a fourth keratin gene's role in PC identified in 1998. Pachyonychia congenita follows an autosomal dominant pattern of inheritance, which means the defective gene is located on an autosome, and only one copy of the gene is required to inherit the disorder from a parent who has the disorder. On average, 50% of the offspring of an affected person will inherit the disorder, regardless of gender. Occasionally, however, a solitary case can emerge in a family with no prior history of the disorder due to the occurrence of a new mutation (often referred to as a sporadic, spontaneous or de novo mutation).