Punctate palmoplantar keratoderma type I

What causes palmoplantar keratoderma type 1?

In most families, punctate palmoplantar keratoderma type 1 is caused by a mutation in the AAGAB gene. The gene is thought to play an important role in skin integrity. When the gene is not working properly, the skin clumps together, forming the bumps on the skin that are characteristic of the condition.

Last updated on 05-01-20

How is punctate palmoplantar keratoderma type I diagnosed?

Diagnosis of punctate palmoplantar keratoderma type I may be established based on a positive family history (i.e., other affected family members), the presence of the signs associated with the condition, and certain cell histology (i.e., appearance of skin samples when viewed under a microscope). The diagnosis of the condition may be confirmed with genetic testing.

Last updated on 05-01-20

How is punctate palmoplantar keratoderma type I inherited?

Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is necessary for a person to be affected. An autosomal dominant condition may occur for the first time in an affected individual due to a new mutation, or may be inherited from an affected parent. A person with punctate keratoderma has a 50% chance of passing on the condition to each of his or her children.

Punctate palmoplantar keratoderma type I also shows reduced penetrance. This means that not everyone who inherits the gene mutation that causes the condition will develop symptoms of the condition. However, this person would still be at risk of passing the disease-causing mutation to their offspring.

Last updated on 05-01-20

What is the long-term outlook for people affected by punctate palmoplantar keratoderma type I?

Punctate palmoplantar keratoderma type I does not affect a person’s lifespan. Many people with this condition do find that they develop more skin lesions with age. Additionally, the symptoms of punctate palmoplantar keratoderma type I and some of the treatments for the condition may have side effects that impact a person's quality of life. The long-term outlook may differ depending on each person’s individual symptoms and pain tolerance.

Last updated on 05-01-20

How might punctate palmoplantar keratoderma type 1 be treated?

Treatment options for punctate palmoplantar keratoderma type I generally include topical creams and removal of the lesions by a doctor. In some cases, oral medications may be prescribed to try to ease symptoms. These therapies can lead to temporary softening of the skin and a decrease in skin thickness. Unfortunately, in many cases, treatment does not provide consistent or long-lasting results.

There has been some reported success using creams that break up the keratin deposits on the skin, such as corticosteroids, urea, salicylic acid, lactic acid, or vitamin A. Systemic therapy using vitamin D analogues, aromatic retinoids, and 5-fluorouracil has also been used. However, people on these medications often require chronic, low- dose therapy. These topical and systemic treatments carry a variety of side effects.

Surgery, including excision of affected areas of the skin and replacement with unaffected skin, has been used on lesions resistant to other forms of treatment. However, healing after surgery can be difficult. Treatment with a CO2 laser may be possible for limited affected areas on the palms.

Last updated on 05-01-20

Clinical Research Resources

Foundation for Ichthyosis and Related Skin Types

Foundation for Ichthyosis and Related Skin Types has funded ichthyosis-related research through its Research Grant Program.

Last updated on 04-27-20

Name: Foundation for Ichthyosis and Related Skin Types FIRST 2616 North Broad Street
Colmar, PA, 18915 , United States
Phone: +1-215-997-9400 Toll Free: 1-800-545-3286 Email: info@firstskinfoundation.org Url: http://www.firstskinfoundation.org/
Leung KC and Barankin B. Punctate Palmoplantar Keratoderma (Brauer-Buschke-Fisher Syndrome) - Report of a Case and Review of the Literature SM Journal of Case Reports. 2015; 1(1). 1003. Giehl K. Punctate palmoplantar keratoderma type I Orphanet. January 2015; Reference Link Charny JW and James WD. Keratosis Palmaris et Plantaris Medscape Reference. June 10, 2016; Reference Link

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