Pachyonychia congenita

What causes pachyonychia congenita?

Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A , KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the structure of keratin proteins which interferes with their ability to provide strength and resilience to various parts of the body. This leads to the many signs and symptoms associated with pachyonychia congenita.

PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17.

Last updated on 05-01-20

How is pachyonychia congenita diagnosed?

A diagnosis of pachyonychia congenita (PC) is often suspected based on the presence of characteristic signs and symptoms. In fact, one study found that approximately 97% of people with genetically confirmed PC have toenail thickening, plantar keratoderma (thickening of the skin on the soles of the feet) and plantar pain by age ten.

Identification of a change (mutation) in one of the five genes associated with PC confirms the diagnosis.

Last updated on 05-01-20

How is pachyonychia congenita inherited?

Pachyonychia congenita (PC) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PC has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated on 05-01-20

What is the long-term outlook for people with pachyonychia congenita?

The long-term outlook (prognosis) for people with pachyonychia congenita (PC) varies. Although the condition is not associated with a reduced lifespan, it can negatively impact quality of life. Almost all people report constant pain caused by plantar keratosis (thickened skin on the soles of the feet) with underlying blisters and/or various types of cysts (i.e. steatocystoma and pilosebaceous cysts - two types of sebaceous gland cysts). This pain can interfere with mobility and day-to-day activities.

For more information on living with PC, please visit the Pachyonychia Congenita Project's website.

Last updated on 05-01-20

How might pachyonychia congenita be treated?

Current management of pachyonychia congenita is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some people may also require aids to help with mobility, such as wheelchairs, crutches and/or canes.

Pachyonychia Congenita Project offers more detailed information regarding the treatment and management of PC. Please click on the link to access this resource.

Last updated on 05-01-20

Name: Pachyonychia Congenita Project PC Project P.O. Box 17850
Holladay, UT, 84117-0850, United States
Phone: 801-987-8758 Email: info@pachyonychia.org Url: http://www.pachyonychia.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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